Retinitis pigmentosa Ikhtisar

8/2/2019 Retinitis pigmentosa Ikhtisar

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Retinitis pigmentosa IkhtisarRoberta Pagon A, MD

Stephen P Daiger, PhD

karakteristik penyakit.

Retinitis pigmentosa (RP) adalah sekelompok kelainan bawaan di mana kelainan dari fotoreseptor (batang dan

kerucut) atau epitel pigmen retina (RPE) dari retina menyebabkan kehilangan penglihatan yang

progresif.Terkenaindividu cacat pertama adaptasi gelap pengalaman atau "malam kebutaan," diikuti dengan

penyempitan bidang visual perifer dan, akhirnya, kehilangan penglihatan sentral di akhir perjalanan penyakit.

Diagnosis / pengujian. Diagnosis RP bergantung pada dokumentasi kerugian progresif dalam fungsi

fotoreseptor oleh elektroretinografi (ERG) dan uji lapangan visual. Themode warisanRP ditentukan

olehsejarah keluarga. Setidaknya 35 berbedagenatau lokus diketahui menyebabkan nonsyndromic

RP.DNAtes tersedia secara klinis untukRLBP1 (resesif autosomal, Bothnia tipe RP),Rp1 (autosomal

dominan, Rp1),Rho(dominan autosomal, Rp4),RDS (autosomal dominan, Rp7), PRPF8 (autosomal

dominan, Rp13), PRPF3(autosomal dominan, RP 18), CRB1 (resesif autosomal, Rp12),ABCA4 (resesif

autosomal, Rp19), danRPE65 (resesif autosomal, Rp20). Untuk semua yang laingen,pengujian genetika

molekulartersedia secara penelitian saja.

Manajemen.

Terapi dengan vitamin A palmitat dapat memperlambat degenerasi retina tetapi tidak dianjurkan bagi mereka d

bawah usia 18 tahun dan harus diawasi secara rutin pada wanita usia subur karena efek teratogenik

potensial. Penggunaan UV-A dan B memblokir kacamata hitam-UV dianjurkan. Terapi Diamox dapa

mengurangi edema makula cystoid. CPF 550 lensa dapat meningkatkan kenyamanan mata dengan mengurangi

silau dan waktu adaptasi dari terang ke gelap. Berbagai alat bantu optik lainnya termasuk bantu,-televisi sirkui

tertutup, dan intensitas tinggi,-beam senter luas.

Konseling genetik. RP dapat diwariskan dalamautosomal dominan,resesif autosomatau X-linked cara,. -

Linked RP X dapat beruparesesif, mempengaruhi laki-laki saja, ataudominan, mempengaruhi baik pria

maupun wanita, perempuan selalu lebih sedikitterpengaruh. Beberapa dan bentuk mitokondria digenic juga

telah dijelaskan.konseling genetiktergantung pada diagnosis yang akurat, penentuancara warisandalam

keluarga masing-masing, dan hasiluji genetika molekular.

DefinisiManifestasi Klinis

RP merujuk kepada sekelompok kelainan bawaan di mana kelainan dari fotoreseptor (batang dan kerucut) dar

retina menyebabkan kehilangan penglihatan yang progresif.

Dalam RP, hilangnya fungsi batang mendominasi di awal perjalanan klinis. Gejala awal RP biasanya adaptasi

gelap cacat atau "buta malam." Jika individu dengan RP tidak rela sejarah adaptasi gelap yang salah, pertanyaan

rinci tentang kegiatan di senja atau dengan pencahayaan minim sering memunculkan seperti sejarah yang

dimulai di masa kanak-kanak atau remaja. Secara umum, semakin dini usia timbulnya adaptasi gelap cacat

yang jalannya lebih parah RP. Meskipun kehilangan visi perifer pertengahan terjadi pada awal penyakit, jarang
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diakui olehyang terkena dampakindividu dan biasanya bukan merupakan gejala menyajikan.terkenaindividu

dapat dianggap "kikuk" sebelum penyempitan bidang visual (misalnya, "tunnel vision") adalah terdeteksi.

Terlepas dari kenyataan bahwa tes sensitif fungsi kerucut dapat dokumen keterlibatan kerucut awal

pusatketajaman visual biasanya diawetkan hingga tahap akhir RP. Kehilangan ketajaman visual pusat dari

waktu ke waktu berkorelasi dengan kehadiran lesi makula awal dalam kegiatan [ Flynn et al 2001]. Umumnya

kehilangan ketajaman pusat disebabkan oleh atrofi makula di RP maju atau kurang umum dari edema makula

cystoid, yang terjadi pada beberapa individu pada tahap awal RP. Beberapa penyelidik telah menemukan

korelasi umum antara terkait visual ketajaman-umur dan subtipe genetik.Fishman(1978b) menemukan bahwa

individu dengandominan autosomalRP memiliki prognosis yang terbaik, dengan mayoritas dari mereka lebih

muda dari usia 30 tahun memiliki ketajaman visual 20 / 30 atau lebih baik. Laki-laki dengan X-linked RP

memiliki prognosis terburuk, dengan semua individu yang lebih tua dari usia 50 tahun memiliki ketajaman

visual lebih rendah dari 20/200. Individu denganautosomal resesifsimplex RP dan (yaitu, kejadian tunggal

dalam keluarga) yang menengah di tingkat keparahan. Lain tidak menemukan hubungan antara gangguan

penglihatan pusat dan subtipe genetik.

Para penampilan fundus di RP biasanya tergantung pada tahap degenerasi retina. Pada tahap awal ketika

elektroretinografi mengungkapkan tanggapan batang cacat pada orang yang mungkin belum menghargai gejala,fundus biasanya muncul normal. Istilah ini retinitis pigmentosapigmento sinus telah digunakan untuk merujuk

kepada penampilan normal retina meskipun kelainan fungsi photoreceptor didokumentasikan. Perubahan yang

diamati paling awal di fundus adalah penyempitan arteriol, seperti intraretinal pigmentasi debu halus, dan

hilangnya pigmen dari epitel pigmen. Seperti kerusakan fotoreseptor berlangsung, terjadi peningkatan hilangnya

pigmen dari epitel pigmen dengan intraretinal menggumpal melanin, muncul paling sering sebagai rumpun

kasar pada tulang spicule "konfigurasi". Retina kapal atenuasi dan pucat lilin pada saraf optik menjadi jelas

pada individu dengan RP maju. Penyebab kapal redaman retina tidak diketahui, tetapi tampaknya menjadi suatu

perubahan sekunder dan bukan proses penyakit primer.

subcapsular katarak posterior ditandai oleh perubahan kristal kekuningan di sumbu visual korteks lensaperifer yang umum dalam segala bentuk RP. Keparahan katarak berkorelasi dengan umuryang terkena

dampakindividu. Penyebab pembentukan katarak di RP tidak diketahui.

-Seperti partikel debu di vitreous hadir dalam sebagian besar individu dengan RP. Ini adalah halus, partikel

tidak berwarna yang terdiri dari butiran pigmen melanin gratis, epitel pigmen, melanosit uveal, dan-seperti sel

makrofag, yang merata di seluruh vitreous. Pengamatan partikel-partikel ini dapat membantu dalam diagnosis

RP dini sebelum perubahan fundus yang jelas.

Putih titik jauh di dalam retina pada tingkat epitel pigmen diyakini merupakan manifestasi nonspesifik

degenerasi epitel pigmen dan dapat menjelaskan penampilan retina disebut "retinitis albescens punctata," yang

dianggap sebagai manifestasi dari RP.

badan hialin (drusen) dari kepala saraf optik yang umum dan tidak ada atau diagnosa secara klinis.

Sebuah kejadian langka pada individu dengan RP maju vasculopathy eksudatifberhubungan dengan pembuluh

telangiectatic, detasemen retina serosa, dan deposisi lemak di retina. Penyebab vasculopathy eksudatif di RP

tidak diketahui.
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Sektor RP adalah istilah yang digunakan untuk menjelaskan perubahan-perubahan dalam satu kuadran atau

separuh dari setiap fundus. Paling umum, kuadran inferonasal yang simetris terlibat. Cacat bidang visual kurang

parah dibandingkan dengan RP khas dan sesuai dengan retina abnormal ophthalmoscopically. Individu dengan

sektor gejala biasanya RP kurangnya adaptasi gelap yang cacat, meskipun kelainan luas batang dan fungsi

kerucut biasanya terdeteksi oleh ERG. Informasi tentang sejarah alam sektor RP adalah bertentangan.perubahan

sektoral telah diamati dalamdominan autosomalRP dan pada wanita heterozigot untuk RP X-linked.Insiden

sektor RP rendah, baik karena hal ini jarang terjadi atau karena mengakibatkan gejala ringan dalam diagnosis

jarang.

Membangun Diagnosis yang

Konferensi konsensus [Marmor et al 1983] menyarankan bahwa diagnosis RP adalah didirikan ketika berikut

ini:

Rod disfungsi sebagaimana diukur dengan Dark adaptasi (batang ambang batas ditinggikan akhir)

ATAU

Electroretinogram (ERG) (tanggapan batang nondetectable, atau tanggapan batang denganamplitudo berkurang dan waktu implisit lama atau nondetectable)

Progresif kehilangan fungsi fotoreseptor Kehilangan penglihatan tepi Bilateral keterlibatan

Retina dinilai melalui 1) oftalmoskopi termasuk, jika diperlukan, angiografi fluorescein; 2) Penilaian fungsional

visi (misalnya, bidang visual, ketajaman visual, dan visi warna), dan 3) uji elektropsikologi (elektroretinografi).

Oftalmoskopi dari retina pada individu dengan RP maju dicirikan oleh adanya gumpalan intraretinal pigmen

hitam, nyata dilemahkan pembuluh retina, hilangnya epitel pigmen retina (RPE), dan pucat pada saraf

optik.Perubahan ini mencerminkan degenerasi retina berlangsung lama dan tidak perlu hadir untuk membuatdiagnosis RP. Temuan fundus Namun, instrumental dalam membedakan RP dari dystrophies retina lain yang

memiliki gejala klinis yang sama tapi perubahan retina khas.

Fungsional penilaian visi:

Visual uji lapangan, pemetaan obyek uji dirasakan secara subyektif, yang elips cahaya ukuranbervariasi dari 1 / 16 mm sampai 64 mm, diproyeksikan di atas latar belakang diterangi

seragam.Gejala adaptasi gelap cacat pada individu dengan RP disertai dengan pembatasan bidang

visual perifer.Dalam RP awal, cincin scotoma (blind spot) hadir di pinggiran-tengah bidang visual ~

20-25 dari fiksasi. Sebagai RP berlangsung, tepi luar cincin mengembang cukup cepat ke pinggiran,

sedangkan dalam kontrak marjin pelan menuju pusat lapangan (memproduksi "tunnel vision"). Lama

setelah seluruh bidang perifer hilang, oval kecil lapangan sentral biasanya tetap utuh. Individu dengan

RP mungkin memenuhi syarat secara hukum buta dengan kriteria bidang visual sebelum visus turun ke

tingkat yang ditetapkan untuk kebutaan hukum (20/200). Oleh karena itu, pengujian bidang visual

tidak hanya berguna untuk diagnosis, tetapi juga untuk mendirikan kebutaan hukum.

Visual ketajaman (VA), diukur dalam usia individu lima tahun dan lebih tua menggunakan grafikSnellen, untuk penilaian penglihatan jarak (di 20 ') dan makula (pusat) visi
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Warna visi, yang dapat dinilai secara subyektif olehterpengaruhindividu atau dengan tes obyektifElektroretinografi (ERG) obyektif menentukan status fungsional dari fotoreseptor. ERG mengukur potensi

listrik yang muncul di retina setelah rangsangan cahaya dan merupakan respon gabungan jutaan sel

retina.Pengukuran ini dibuat dengan lensa kontak dua elektrode yang ditempatkan pada kornea, output yang

diperkuat dan ditampilkan secara elektronik. Tanggapan diperoleh berdasarkan-disesuaikan kondisi gelap

umumnya mencerminkan fungsi batang, dan tanggapan diperoleh di bawah sinar-kondisi diadaptasi umumnya

mencerminkan fungsi kerucut. Rod tanggapan dapat dipisahkan dari tanggapan kerucut, yang memungkinkan

definisi jenis dan cakupan batang dan / atau keterlibatan kerucut. dan penurunan berat awal tanggapan batang

murni terjadi di RP dan sangat penting untuk diagnosis RP pada individu muda. Individu dengan RP maju

memiliki batang nondetectable dan tanggapan kerucut.

Diferensial Diagnosis

Perlu dicatat bahwa orang yang hadir dengan gejala awal photopsia (sensasi kilatan cahaya), penglihatan sentral

abnormal, penglihatan warna normal, atau ditandai asimetri pada keterlibatan okular mungkin tidak memiliki

RP, tetapi yang lain atau penyakit degenerasi retina retina. Beberapa gangguan yang perlu dipertimbangkan

dalam diagnosis diferensial RP khas:

Usher syndrome. Ketiga jenis sindrom Usher yang diwariskan dalamautosomalresesifcara. Individu dengantipe sindrom Usher 1memilikibawaan, mendalam, gangguan

pendengaran sensorineural bilateral dan tidak ada pidato dimengerti. Semuaterkena dampakindividu

memiliki kelainan fungsi saraf vestibular terdeteksi pada tes kalori dan terkait ringan, ataksia non-

progresif. Gejala RP khas biasanya dicatat pada anak terlambat remaja awal dan progresif

lambat. Individu dengantipe sindrom Usher 2memiliki ringan-untuk-mendalambawaangangguan

pendengaran sensorineural, tanggapan vestibular normal, dan akhir-remaja-untuk-muda-dewasa-onset

RP. Individu dengan tipe sindrom Usher 3 memiliki gangguan pendengaran sensorineural bilateralprogresif dan RP.

Berkisar atrofi dari koroid dan retina, sebuahresesif autosomalgangguan, dapat dibedakan dari RPoleh penampilan fundus dan dengan tes laboratorium yang sesuai. Pada awal penyakit, dibatasi, bercak

bulat diskrit dan atrofi retina Choroidal terjadi di midperiphery tersebut. Sebagai penyakit berlangsung

daerah-daerah bergabung untuk membentuk didefinisikan, cacat bergigi tajam dari epitel pigmen dan

koroid yang istilah "berkisar" telah ditetapkan. Sepuluh kali lipat untuk elevasi 20 dari ornithine

konsentrasi plasma disebabkan oleh kekurangan dari aminotransferase ketoacid ornithine-enzim, yang

dapat diuji dalam fibroblas kulit.

Choroideremia , sebuah gangguan X-linked, dapat dibedakan dengan penampilan fundus. Tahap awalterdiri dari pigmen halus stippling dan atrofi kutub posterior dan pertengahan pinggiran fundus. Pada

stadium lanjut, epitel pigmen retina merata dan Choroidal atrofi muncul di midperiphery dan secara

bertahap menyatu menjadi daerah konfluen kuning pucat.
http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/usher1/http://www.ncbi.nlm.nih.gov/books/n/gene/usher1/http://www.ncbi.nlm.nih.gov/books/n/gene/usher1/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/http://www.ncbi.nlm.nih.gov/books/n/gene/usher2/http://www.ncbi.nlm.nih.gov/books/n/gene/usher2/http://www.ncbi.nlm.nih.gov/books/n/gene/usher2/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/choroid/http://www.ncbi.nlm.nih.gov/books/n/gene/choroid/http://www.ncbi.nlm.nih.gov/books/n/gene/choroid/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/usher2/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/usher1/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/affected/


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Cone-batang distrofi, kadang-kadang disebut atau pusat RP invers, ditandai oleh dan simetrisbilateral hilangnya fungsi kerucut di hadapan fungsi batang berkurang. Seperti RP istilah, istilah

"kerucut-rod distrofi" mengacu kepada sekelompok gangguan. Di-batang dystrophies kerucut,

kehilangan ketajaman visual pusat, photoaversion, dan cacat penglihatan warna muncul sebelum rugi

visual perifer dan adaptasi gelap cacat. Cone-batang dystrophies cenderung memiliki onset

dini.Perubahan fundus mungkin mirip dengan yang RP. Cone-batang dystrophies sering sindromik;

contoh termasuksindrom Alstrom,-Beidl sindrom Bardet, danlipofuscinoses ceroid saraf.

bawaan amaurosis Leber (LCA), sebuah distrofi parah retina, biasanya menjadi jelas pada tahunpertama kehidupan. Visual fungsi biasanya miskin dan disertai dengan nystagmus, respon pupil

lamban, fotofobia, dan hyperopia. The-digital sign oculo (diulang menggosok mata, menusuk, dan

menekan) adalah karakteristik. Tampilan fundus tersebut sangat variabel. Meskipun awalnya retina

mungkin tampak normal, mengingatkan retinopati pigmen dari pigmentosa retinitis sering diamati

kemudian di masa kanak-kanak. The electroretinogram (ERG) bersifat "nondetectable" atau sangat di

bawah normal.

Tujuhgensaat ini diketahui terkait dengan LCA: CRX, CRB1, GUCY2D, AIPL1, RDH12, RPGRIP1 ,danRPE65 . Bersama inigendiperkirakan untuk menjelaskan, tergantung hasil survei, dari satu

sepertiga sampai setengah dari kasus LCA. Dua lokus penyakit lain untuk LCA telah

dilaporkan.Paling sering, LCA diturunkan dalamautosomal resesifcara, jarang, itu diwariskan

dalamautosomal dominandengan cara sebagai hasil darimutasidalam CRXgen.

Retina-ginjal Senior sindrom Loken. Sepuluh persen individu dengan nephronophthisis, genetikpenyebab paling sering dari gagal ginjal kronis pada anak, memiliki pigmentosa retinitis, yang

merupakan-Loken sindrom-retina Senior ginjal.Mutasidi evolusioner dilestarikangen,IQCB1 (juga

disebutNPHP5 ), adalah penyebab paling sering dari senior-Loken sindrom [Otto et al 2005].

gangguan mitokondria. Mutasidalam mitokondriaDNA(mtDNA) menyebabkan berbagai temuanneurologis termasuk demensia, seperti episode stroke, dan neuropati perifer, serta distrofi retina,turun

temurun neuropati optik Leber, gangguan pendengaran, dan diabetes

melitus. Lihat GeneReviews:Melas,MERRF,Penghapusan Syndrome mitokondria

DNA,mitokondria Penyakit Ikhtisar.

Sepihak RP. Sepihak RP mengacu pada perubahan fungsional dan ophthalmoscopic sepihak, yangkhas dari RP dihasilkan dari berbagai penyebab, beberapa diantaranya mungkin genetik.

Diobati gangguan. Hal ini penting untuk dicatat tiga kelainan bawaan dengan degenerasi retina danmanifestasi sistemik yang ada pengobatan:-Kornzweig penyakit Bassen (abetalipoproteinemia) dengan

acanthocytosis dan malabsorpsi;ataksia dengan kekurangan vitamin E(AVED) (yang disebabkan

olehmutasidalam TTPA , yanggenencoding alpha-tokoferol protein transfer) dengan ataksia dan

neuropati, dan penyakit Refsum (defisiensi phytanic oksidase asam) dengan neuropati, ataksia, tuli,

dan aritmia jantung.

Prevalensi
http://www.ncbi.nlm.nih.gov/books/n/gene/alstrom/http://www.ncbi.nlm.nih.gov/books/n/gene/alstrom/http://www.ncbi.nlm.nih.gov/books/n/gene/alstrom/http://www.ncbi.nlm.nih.gov/books/n/gene/bbs/http://www.ncbi.nlm.nih.gov/books/n/gene/bbs/http://www.ncbi.nlm.nih.gov/books/n/gene/bbs/http://www.ncbi.nlm.nih.gov/books/n/gene/ncl/http://www.ncbi.nlm.nih.gov/books/n/gene/ncl/http://www.ncbi.nlm.nih.gov/books/n/gene/ncl/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID78647http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID78647http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID78647http://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/http://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dna/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dna/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dna/http://www.ncbi.nlm.nih.gov/books/n/gene/lhon/http://www.ncbi.nlm.nih.gov/books/n/gene/lhon/http://www.ncbi.nlm.nih.gov/books/n/gene/lhon/http://www.ncbi.nlm.nih.gov/books/n/gene/lhon/http://www.ncbi.nlm.nih.gov/books/n/gene/melas/http://www.ncbi.nlm.nih.gov/books/n/gene/melas/http://www.ncbi.nlm.nih.gov/books/n/gene/melas/http://www.ncbi.nlm.nih.gov/books/n/gene/merrf/http://www.ncbi.nlm.nih.gov/books/n/gene/merrf/http://www.ncbi.nlm.nih.gov/books/n/gene/merrf/http://www.ncbi.nlm.nih.gov/books/n/gene/kss/http://www.ncbi.nlm.nih.gov/books/n/gene/kss/http://www.ncbi.nlm.nih.gov/books/n/gene/kss/http://www.ncbi.nlm.nih.gov/books/n/gene/kss/http://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/http://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/http://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/http://www.ncbi.nlm.nih.gov/books/n/gene/aved/http://www.ncbi.nlm.nih.gov/books/n/gene/aved/http://www.ncbi.nlm.nih.gov/books/n/gene/aved/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/aved/http://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/http://www.ncbi.nlm.nih.gov/books/n/gene/kss/http://www.ncbi.nlm.nih.gov/books/n/gene/kss/http://www.ncbi.nlm.nih.gov/books/n/gene/merrf/http://www.ncbi.nlm.nih.gov/books/n/gene/melas/http://www.ncbi.nlm.nih.gov/books/n/gene/lhon/http://www.ncbi.nlm.nih.gov/books/n/gene/lhon/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dna/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID78647http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/h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Prevalensi RP adalah 19-27 per 100.000. Prevalensi di AS dan Eropa adalah sekitar 1 / 3, 500 untuk 1 / 4,

000.Haim (2002)melaporkan bahwa di Denmark risiko seumur hidup mengembangkan RP adalah 1 /

2500.frekuensi serupa diharapkan pada populasi lain tetapi belum didokumentasikan. RP tidak menunjukkan

etnisspesifisitas, tapi RP disebabkan olehmutasipada khususnyagenmungkin lebih sering di

tertentuterisolasipopulasi atau kerabat.

Penyebab

RP diklasifikasikan sebagai nonsyndromic, atau "sederhana" (yang tidak mempengaruhi organ tubuh lainnya

atau jaringan); sindromik (mempengaruhi sistem lain seperti pendengaran), atau sistemik (mempengaruhi

beberapa jaringan). Ikhtisar ini berfokus pada bentuk nonsyndromic RP. Nonsyndromic RP dapat diwariskan

dalamautosom dominan,resesif autosomatau X-linked cara,. digenic bentuk Langka juga terjadi. Digenic RP

terjadi pada individu yang heterozigot untuk keduaROM1mutasidanRDSmutasi.

kasus Simplex(yaitu, kejadian tunggal dalam keluarga) merupakan 10-40% dari semua individu dengan RP dan

mungkin akibat dari de novodominan autosomatau X-linkedmutasiatauresesif autosomalwarisan, atau

mereka mungkin individu dengan saudara yangterpengaruh(mungkin sedikit) tetapi penyakit yang tidakdiketahui olehterpengaruhindividu.

Tabel 1merangkum proporsi relatif dariprobandsdengan RP dengancara warisan.

Tabel 1. PenyebabTerisolasiretinitis pigmentosa olehMode Warisan

Cara Warisan Proporsi RP SemuaProbands

Autosomal dominanRP (adRP) 15-25%

Autosom resesifRP (arRP) 5-20%

X-linked RP (xlRP) 5-15%

Unknown: Simplex 40-50%

Digenic RP Sangat jarang

Fishman 1978a

Genepemetaan dangenpenemuan telah mengungkapkan bahwa penyebab genetik molekul RP yang luar biasa

rumit [Rivolta et al 2002].Genyang terkait dengan protein encode RP yang terlibat dalam phototransduction

(proses dimana energi sebuah foton cahaya diubah dalam sel fotoreseptor segmen luar menjadi sinyal saraf),

siklus visual (produksi dan daur ulang dari kromofor rhodopsin), struktur fotoreseptor, dan fotoreseptor

seltranskripsi faktor[Phelan & Bok 2000]. Namun, fungsi dari banyakgenyang terkait dengan RP tetap tidak

diketahui.

Kompleksitas ini jelas dalam heterogenitas genetik, yaitu berbagaigendapat menyebabkan penyakit yang sama

[Homs et al 2003,Daiger 2004]. Untuk RP palinggendipelajari hingga saat ini, banyak yang

berbedapenyakit-menyebabkan mutasitelah diidentifikasi, meskipun dalam kebanyakan kasus tertentu

beberapamutasiadalah "umum" di antarayang terkena dampakindividu. Selain banyaknyamutasi

berbedamutasidi samagendapat menyebabkan penyakit yang berbeda. Misalnya, berbedamutasidiRho

yanggenencoding opsin batang, dapat menyebabkandominan autosomalRP,autosomal

dominan bawaankebutaan malam stasioner, atau, jarang,resesif
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autosomalRP.MutasidiRDS, yanggenperipherin pengkodean, dapat menyebabkandominan

autosomalRP,autosomal dominandegenerasi makula, atau RP digenic. keparahan klinis dan

penyakitfenotipsering berbeda antara individu dengan yang samamutasi, kemungkinan besar sebagai akibat

dari dan / atau lingkungan faktor genetik.

Kompleksitas ini dibahas dalam tabel berikut dengan mendaftar beberapagendi lebih dari satu kategori dan

dengan menunjukkan penyakit tambahan yang mungkin dengan berhubungan dengan spesifikgen.

Autosomal dominan RP

Tigagen, rho ,Rp1 , danRDS , account untuk sekitar 25% sampai 30%, 5% sampai 10%, dan 5% sampai 10%

kasus adRP, masing-masing [Berson et al 2001,Sohocki et al 2001] (Tabel 2).

Lebih dari 100Rhomutasitelah dilaporkan tapi satu, P23H, dengan penyakit sektoral yang berbeda, ditemukan

dalam sekitar 10% orang Amerika afffected dengan adRP.

RDSmutasidikaitkan dengan klinisfenotipmulai dari RP untuk degenerasi makula untuk maculopathies

kompleks.

DariRp1mutasidiketahui, dua, Arg677stop dan 2280del5, account untuk setengah dari adRP kasus disebabkan

olehgen.

kloning adRP laingen, seperti PRPF31 , menyebabkan sebagian besar kasus, tetapi prevalensi spesifik belum

diketahui.

Tabel 2.GenMenyebabkanAutosomal MenonjolRP (adRP) (di kromosom Order)

Temp

at

Nama

Gene

Simbol

KromosomLo

kusProtein Nama Juga Penyebab

Persen

adRP

OMI

M

RP 18 PRPF3 1q21.2U4/U6ribonucleoprotein

nuklir kecil Prp3

Beberap

a

keluarga

Rp4 Rho 3q21-Q24 Rhodopsin ResesifRP;dominanCSNB 1 25-30%

Rp7 RDS 6p21.1-cen Peripherin

DominanMD; RP digenic

denganROM1 ;dominandewasa MD

vitelliform 2

5-10%

Rp9 Rp9 7p14.2

Retinitis

pigmentosa 9

protein

Unknown

Rp10IMPD

H17q31.3-Q32

Inosin 5'-monofosfat

dehidrogenase 1

3-5%

Rp1 Rp1 8q11-Q13Oksigen-diatur

protein 15-10%

ROM1 11q13Rod segmen luar

membran protein 1Digenic RP denganRDS Langka
http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID21829http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID21829http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID21829http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID26847http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID26847http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID26847http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T2http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T2http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T2http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/603937http://www.ncbi.nlm.nih.gov/omim/180100http://www.ncbi.nlm.nih.gov/omim/180105http://www.ncbi.nlm.nih.gov/omim/146690http://www.ncbi.nlm.nih.gov/omim/607331http://www.ncbi.nlm.nih.gov/omim/180104http://www.ncbi.nlm.nih.gov/omim/179605http://www.ncbi.nlm.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/607301http://www.ncbi.nlm.nih.gov/omim/601414http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T2http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID26847http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID21829http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/


8/17

Rp27 NRL 14q11.1-q11.2

Leusin saraf retina

yang spesifik

protein ritsleting

Autosom resesifRP Langka

Rp13 PRPF8 17p13.3

Pra-pemrosesan

mRNAsplicingfaktor 8

Unkno

wn

Rp17 CA4 17q23 Karbonatanhydrase IV Unknown

Rp30 FSCN2 17q25 Fascin 2

3% dariJepang

dengan

adRP

CRX 19q13.3Cone-batang

protein homeobox

DominanKABEL 3,dominandanresesif

LCA 4Langka

Rp11 PRPF31 19q13.4

U4/U6 snRNP

terkait 61-kDprotein

15-20%

Diadaptasi dariRetNet

1. CSNB =bawaanbuta senja stasioner

2. MD = distrofi makula

3. KABEL = kerucut batang distrof

4. LCA = Leberbawaanamaurosis

Autosomal resesif RP

Sebagian besar arRPgenjarang terjadi, menyebabkan 1% atau kasus yang lebih sedikit

tetapiRPE65(dinyatakan dalam RPE), dan PDE6A dan PDE6B (phosphodiesterase subunit dalam kaskade

phototransduction), menyebabkan 2-5% kasus,mutasidi USH2A , yang juga dapat menyebabkan sindrom

Usher, mungkin account hingga 5% dari arRP kasus (Tabel 3).Mutasidalam beberapagenmerupakan

penyebab umum arRP pada populasi tertentu - sepertiRp25 di Spanyol - tetapi jarang di tempat lain. Gejala-

gejala penyakit ini mungkin tumpang tindih dengan yang lainresesif autosomalretinopathies. Secara

khusus,autosom resesif, onset awal RP danbawaan amaurosis Leber(LCA) sangat mirip.

Tabel 3.GenMenyebabkanAutosomal ResesifRP (arRP) (di kromosom Order)

Tempat

Nama

Gene

Simbol

KromosomLoku

sProtein Nama Juga Penyebab

Persen

arRP

OMI

M

RP20/LCA2

RPE65 1p31

Pigmen epitel

retina-spesifik

protein 65 kD

LCA 1 (7-16%) 2%

Rp19 ABCA4 1p21-p13transporter retina-spesifik kaset

ATP-binding

ResesifStargardt penyakit,

dan-batang distrofi kerucut~ 5% 2

Rp12 CRB1 1q31-q32.1 Remah-remah ResesifRP dengan-arteriolar Langka
http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.sph.uth.tmc.edu/RetNethttp://www.sph.uth.tmc.edu/RetNethttp://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.sph.uth.tmc.edu/RetNethttp://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/


9/17

protein homolog

1

pelestarian butir dari RPE

(PPRPE); LCA (9-13%)

USH2A 1q41Sindrom Usher

tipe IIa proteinUsher syndrome, tipe 2 4-5%

Rp28 2p15-p11 UnknownSatu

keluarga

MERT

K2q14.1

Proto-onkogen-protein tirosinkinase tirosin

kinase MER

Langka

Rp26 CERKL 2q31.2-q32.3Ceramide kinase-

seperti proteinLangka

SAG 2q37.1 S-arrestin Resesifpenyakit Oguchi Langka

Rp4 Rho 3q21-Q24 RhodopsinDominanRP;DominanCSNB3

Langka

CSNB3 PDE6B 4p16.3

Rod cGMP-spesifik 3 ', 5'-

phosphodiesterase beta-subunit

siklik

DominanCSNB 3-4%

CNGA1 4p12-cen

kation cGMP-

gated alpha

channel 1

Langka

Rp29 4q32-q34 UnknownLangka; 4keluarga

LRAT 4q31Lecithin retinolacyltransferase

Unknown

PDE6A 5q31.2-q34

Rod cGMP-

spesifik 3 ', 5'-

phosphodiesteras

e alpha-subunitsiklik

3-4%

Rp14 TULP1 6p21.3Tubby terkait

protein 1Langka

Rp25 6q14-Q21 Unknown

10-20%

dari arRP

diSpanyol

RGR 10q23RPE-retina Gprotein-coupled

receptor

DominanChoroidal sclerosis Unknown

Rp27 NRL 14q11.1-q11.2

Leusin saraf

retina yangspesifik protein

DominanRP
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.nih.gov/omim/180380http://www.ncbi.nlm.nih.gov/omim/258100http://www.ncbi.nlm.nih.gov/omim/181031http://www.ncbi.nlm.nih.gov/omim/604705http://www.ncbi.nlm.nih.gov/omim/606068http://www.ncbi.nlm.nih.gov/omim/276901http://www.ncbi.nlm.ni

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Retinitis pigmentosa Ikhtisar