AAO 2015 Instruction Course (Mystery Retina-Interactive Discussion of Cases)-Final Handout

7/24/2019 AAO 2015 Instruction Course (Mystery Retina-Interactive Discussion of Cases)-Final Handout

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Mystery Retina 2015:

Interactive Discussion of Challenging Cases

Will iam F Mieler, MD

Chicago, IL

Lee M Jampol, MDChicago, IL

Jerry A Shields, MD

Philadelphia, PA

K Bailey Freund, MD

New York, NY

David Sarraf, MD

Los Angeles, CA

Carol L Shields, MD

Philadelphia, PA

AAO Instruction Course

Las Vegas, NV


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Case TRWilliam F Mieler, MD, Chicago, IL

This 55 year old female was in excellent health, though abruptly and painlessly lostvision OS over a two day time frame. A very thorough systemic evaluation was entirely

within normal limits. Systemic laboratory evaluation included FTA, VZV, CMV, herpesviruses, ANA, HLA, Quantiferon, ACE, and lysozyme all were normal. She was startedon systemic valicyclovir and corticosteroids. Vision never recovered, and the retinadetached within two weeks. Vitrectomy surgery was undertaken and PCR testing waspositive for Herpes type 2. The patient has not recovered visual function beyond HMOS, yet the right eye remains normal.

Diagnosis

References

Blumenkranz MS, Kaplan HJ, Clarkson JG, Culbertson WW, Williams GA, Kleiner RC,

Meissner RH: Acute multifocal hemorrhagic retinal vasculitis. Ophthalmol1988;95:1663-72

Jalali S, Kolari RS, Pathengay A, Athmanathan S. Severe hemorrhagic retinopathy asinitial manifestation of acute retinal necrosis caused by herpes simplex virus. Indian JOphthalmol 2007;55:308-10


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Bronner G, Shah S, Bhagat N, Zarbin M: Acute idiopathic hemorrhagic retinal vasculitiswith transietn profound visual loss. Retin Cases Brief Rep 2008:2:178-80

Amaro MH, Roller AB, Motta CT, Motta MM: Long term follow-up of acute multifocalhemorrhagic retinal vasculitis (Blumenkranz Syndrome) Arg Bras Ofthalmol. 2011;

74:368-70

Wong RW, Jumper JM, McDonald HR, Johnson RN, Fu A, Lujan BJ, Cunningham ETJr: Emerging concepts in the management of acute retinal necrosis. Br J Ophthalmol2013;97:545-552


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Case AHWilliam F Mieler, MD, Chicago, IL

A 65 year old male was referred for evaluation of multiple intraocular tumors OD.Previous vitrectomy surgery OS had not been successful. VA was 20/20 OD, and LP

OS. The patient underwent additional PPV surgery OS, which reattached the retina,and documented similar lesions the left eye. A limited systemic evaluation revealed lowmagnesium and phosphorus levels, along with moderately elevated creatinine levels.There was no evidence of parathyroid adenoma.

Diagnosis

Idiopathic sclerochoroidal calcification (r/o Gittelman syndrome)

References


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Jones AC et al. Diseases associated with calcium pyrophosphate deposition disease.Semin Arthritis Rheum 1992; 22:188-202

Cohen SY, Guyot-Sionnest M, Puech M. Choroidal neovascularization as a late

complication of hyperparathyroidism. Am J Ophthalmol 1998;126: 320-2.

Lindstedt EW, van den Born LI, Veckeneer M, Baarsma GS. Sclerochoroidalcalcification: idiopathic or associated with systemic disease? Retina Cases BriefReports 2007;1:141-4.

Gupta R, Hu V, Reynolds T, Harrison R. Sclerochoroidal calficiation associated withGitelman syndrome and calcium pyrophosphate dihydrate deposition. J Clin Pathol2005;58:1334-5.

Sun H, Demirci H, Shields CL, Shields JA. Sclerochoroidal calcification in a patient with

classic Bartters syndrome. Am J Ophthalmol 2005;139:365-6.

Shields CL, Hasanreisoglu M, Saktanasate J, Seibel I, Shields JA. Sclerochoroidalcalcification: clinical features, outcomes, and relationship with hypercalcemia andparathyroid adenoma in 179 eyes. Retina 2015;35:547-54


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Case KFWilliam F Mieler, MD, Chicago, IL

This 41 year old female presented with a history of papillary thyroid carcinoma, havingundergone thyroidectomy surgery 18 months earlier, along with I-131 treatment. Shewas felt to be free to disease. However, a pulmonary lesion was noted and a FNAByielded evidence of a schwannona, which was observed. Then the patient developedan enlarged blind spot OS, and was referred for assessment.On ocular examination, the VA was 20/20 OD and 20/70 OS. A chorioretinal masslesion was noted along the superotemporal arcade OS, with overlying hemorrhage.Over concern of a possible thyroid metastatic lesion, a FNAB was performed. Thebiopsy only showed chronic inflammatory cells, without evidence of thyroid metastasesor other abnormalities. Observation over the past twelve months has led to virtuallycomplete resolution of the lesion with return of VA to 20/25 OS. The patient remainsfree of metastatic disease

Diagnosis

Chorioretinal mass lesion OS-rule out metastatic thyroid carcinoma OSProbable chronic macular neuroretinitis

References

Besic N and Luznik Z: Choroidal and orbital metastases from thyroid cancer. Thyroid2013;23:543-51.

Shields CL, Shields JA, Gross NA, et al. Survey of 520 eyes with uveal metastasis.Ophthalmol 1997;104:1265-76.


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Case CAWilliam F Mieler, MD

This 57 year old male underwent repair of a macula-on retinal detachment via aSB/PPV approach two weeks ago. Preoperative VA was 20/25 OD, though now was

20/200 OD. There was no persistent RD, nor evidence of PVR. What was seen onclinical examination were vertically oriented retinal folds involving the macula. Thepatient underwent surgery which included temporary re-detachment of the retina via a39 gauge needle, inserting fluid under the macula. Final VA was 20/25 OD two monthslater

DiagnosisMacular folds following a SBP/PPV surgery

References

Hayashi A, Usui S, Kawaguchi K, Fujioka S, Kusaka S, Fujikado T, Ohji M, Tano Y:Retinal changes after retinal transplantation surgery with scleral imbrication in dog eyes.Invest Ophthalmol Vis Sci 2000;41;4288-92.

Repair of macular fold following retinal reattachment surgery. El-Amir AN, Every S,Patel CK: Clinical Exp Ophthalmol 2007;35;791-2.

Ruiz-Moreno J, Montero J: Sliding macular fold following retinal detachment surgery.Graefes Archives of Clinical and Experimental Ophthalmol 2010.

1.


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Herbert EN, Groenewald C, Wong D: Treatment of retinal folds using a modifiedmacula relocation technique with perfluoro-hexyloctane tamponade. Br J Ophthalmol2003;87:921-2

Witkin A, Hsu J: Surgical repair of macular fold after vitrectomy for bullous

rhegmatogenous retinal detachment. Retina 2012;32:1666-9

Gruener A, et al: Correspondence to the Editor. Retina 2013;33;894-7.


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CASE 1

David Sarraf, MD, Los Angeles, CA

49 year old white male, decreased VA OD x 7 months, with subtle inferonasal scotomaPast Medical History: Diabetes

References

1. Shields JA, Shields CL. Glial tumors of the retina. The 2009 King Khaled MemorialLecture. Saudi J Ophthalmol. 2009;23:197-201.

2. Serafino M, Pichi F, Giuliari GP, Shields CL, Ciardella AP, Nucci P. Retinalastrocytic hamartoma: Spectral-domain optical coherence tomography classificationand correlation with tuberous sclerosis complex. Journal of American Association forPediatric Ophthalmology and Strabismus JAAPOS17(1):e27.

3. Goel N, Pangtey B, Bhushan G, Raina UK, Ghosh B. Spectral-domain opticalcoherence tomography of astrocytic hamartomas in tuberous sclerosis. Int Ophthalmol.

Diagnosis:

Astrocytic hamartoma

OCT CRITERIA

TYPE 1: FLATAND WITHIN THENERVE FIBER LAYER

TYPE 2: SLIGHT ELEVATION WITRETINAL TRACTION

TYPE 3: MOTH-EATEN AREASDUE TO CALCIFICATION

TYPE 4: OPTICALLY EMPTYINTRA- LESIONAL CAVITIES


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2012;32:491-3.

4. Shields JA, Bianciotto CG, Kivela T, Shields CL. Presumed solitary circumscribedretinal astrocytic proliferation: the 2010 Jonathan W. Wirtschafter Lecture. ArchOphthalmol. 2011;129:1189-94


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Case 2

David Sarraf, MD, Los Angeles, CA (courtesy Michael Klufas, MD)

30 YO HF DECREASED VA X MONTHS OU HA, PARESTHESIA

PAST MEDICAL HISTORY: NEGATIVE

PAST SOCIAL HISTORY: NEGATIVE

MRA: NARROWING MCA, COLLATERALIZN AND TORTUOSITY OF BRANCH VESSELS VASCULAR TORTUOSITY LEFT ANTER INFER CEREBELLAR, POSTERIOR CEREBRAL ARTERIESNO FLOW IN RIGHT VERTEBRAL ARTERY MRI: T2/FLAIR HYPERINTENSITY IN CENTRUMSEMIOVALE, CORONA RADIATA CWCHRONIC, ISCHEMICMICROANGIOPATHY DUE TOPROXIMAL INTRACRANIAL ARTERIALSTENOSIS

DIAGNOSIS: MOYA MOYA SYNDROME

IDIOPATHIC CEREBROVASCULARSYNDROME NF 1,

NEUROFIBROMIN VASCULAR

SMOOTH MUSCLE, ENDOTHELIUM ABNORMAL PROLIFERATION,DEVELOPMENT

OUR PATIENT: NF 1 NEGATIVE

References

1. Scott RM and ER Smith. Moyamoya disease and moyamoya syndrome. N Engl JMed, 2009;360:1226-37.


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2. Williams M et al. Moyamoya disease presenting to the ophthalmology clinic. Can JOphthalmol, 2006;41:633-4.

3. Witmer MT et al. Ophthalmic artery ischemic syndrome associated withneurofibromatosis and moyamoya syndrome. JAMA Ophthalmol, 2013;131:38-9.

4. Kumar MA and BA Ganesh. CRAO in Moyamoya Disease. J Clin Diagn Res, 2013. :p. 545-


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CASE 3

David Sarraf, MD, Los Angeles, CA (Courtesy Azadeh Khatibi, MD)

36 year old white female with decreased VA OU x 2 days. Fever, AGUE, SOB.

Diagnosis

PMMA Injections into gluteus maxiums muscles (Brazilian Booty)

References

1. RAHIMY E ET AL. PAMM: WHAT WE KNEW THEN AND WHAT WE KNOW NOW.

RETINA 2015

2. CHEN X ET AL. SPECTRUM OF RETINAL VASCULAR DISEASES ASSOCIATED WITHPAMM. AJO 2015


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Case 4David Sarraf, MD, Los Angeles, CA (courtesy Michael Larsen, MD)

65 year old white female, decreased VA OU for 1 to 2 years

Diagnosis

Outer retinal corrugations (or ghost drusen) associated with geographic atrophy andatrophic age-related macular degeneration (AMD)

References


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Case #1K. Bailey Freund, MD, New York, NY

Case History:A 39-year-old Caucasian female presented with a one-day history of a

paracentral scotoma in her left eye. Her past ocular history was significant for arefractive error of -7.75 diopters and -9.50 diopters in her right and left eye,respectively. She had no significant medical problems.

Clinical examination:Visual acuity with correction was 20/20 in both eyes. The slit-lamp examination was unremarkable. The ophthalmoscopic examination revealed adiscrete area of elevation with accompanying hemorrhage in the inferotemporal maculaof her left eye. The hemorrhage was hypoautofluorescent with a central area ofhyperautofluorescence. Enhanced depth imaging (EDI)-OCT demonstrated an area offocal choroidal excavation with apparent type 2 neovascularization. The subfovealchoroidal thickness was 336 m and 354 m in the right and left eye, respectively, while

the choroidal thickness nasal to the lesion was 419 m. The choroid under theexcavation was reduced in thickness, measuring 194 m. ICGA showed focal areas ofchoroidal hyperpermeability in the right eye. In the left eye, large choroidal vessels(pachyvessels) are seen on either side of the lesion corresponding to the dilatedappearing vessels seen on EDI-OCT. Depth-resolved en face OCTA showed a focusof increased flow at the site of the lesion.

Diagnosis

Type 2 neovascularization secondary to focal choroidal excavation


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References

1. Margolis R, Mukkamala SK, Jampol LM, et al. The expanded spectrum of focalchoroidal excavation. Arch Ophthalmol. 2011;129(10):1320-5.2. Jampol LM, Shankle J, Schroeder R, et al. Diagnostic and therapeutic

challenges. Retina. 2006;26(9):1072-6.3. Lee JH, Lee WK. Choroidal neovascularization associated with focal choroidalexcavation. Am J Ophthalmol. 2014;157(3):710-8 e1.4. Obata R, Takahashi H, Ueta T, et al. Tomographic and angiographiccharacteristics of eyes with macular focal choroidal excavation. Retina.2013;33(6):1201-10.5. Kim H, Woo SJ, Kim YK, et al. Focal Choroidal Excavation in MultifocalChoroiditis and Punctate Inner Choroidopathy. Ophthalmology. 2015;122(7):1534-56. Kobayashi W, Abe T, Tamai H, Nakazawa T. Choroidal excavation withpolypoidal choroidal vasculopathy: a case report. Clin Ophthalmol. 2012;6:1373-6.7. Warrow DJ, Hoang QV, Freund KB. Pachychoroid pigment epitheliopathy.

Retina. 2013;33(8):1659-72.8. Pang CE, Freund KB. Pachychoroid neovasculopathy. Retina. 2015;35(1):1-9.9. Hoang QV, Cunningham ET, Jr., Sorenson JA, Freund KB. The "pitchfork sign" adistinctive optical coherence tomography finding in inflammatory choroidalneovascularization. Retina 2013;33(5):1049-55.10. Hoang QV, Freund KB. Reply: To PMID 23514797. Retina 2015;35(3):e24.


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Case History:A 57-year-old female reported the recent onset of a central greyscotoma in her right eye. Her past ocular history was unremarkable. Her significant pastmedical history included a low-grade ovarian carcinoma, for which she was receivingchemotherapy with pimasertib.

Clinical examination:Visual acuity was 20/15 in both eyes. The slit-lamp examinationwas unremarkable. Ophthalmoscopic examination showed bilateral multifocal serousretinal detachments involving the posterior pole. An area of myelinated nerve fibers waspresent along the infero-temporal vascular arcade of the left eye. Optical coherencetomography (OCT) showed bilateral areas of neurosensory detachments with veryshallow areas of fluid beneath both the foveae. Choroidal thickness appeared normal to

mildly thick. Fundus autofluorescence (FAF) revealed patchy areas ofhyperautofluorescence corresponding to the areas of exudative detachment.Fluorescein angiography (FA) of both eyes showed mild hyperfluorescence of theserous detachments without areas of focal leakage.

Diagnosis

Serous retinopathy secondary to MEK inhibitor treatment


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References

Martinelli E, Troiani T, D'Aiuto E, et al. Antitumor activity of pimasertib, a selective MEK1/2 inhibitor, in combination with PI3K/mTOR inhibitors or with multi-targeted kinaseinhibitors in pimasertib-resistant human lung and colorectal cancer cells. International

journal of cancer. Journal international du cancer. 2013;133(9):2089-2101.

Jiang Q, Cao C, Lu S, et al. MEK/ERK pathway mediates UVB-induced AQP1downregulation and water permeability impairment in human retinal pigment epithelialcells. International journal of molecular medicine. 2009;23(6):771-777.

Infante JR, Fecher LA, Falchook GS, et al. Safety, pharmacokinetic, pharmacodynamic,and efficacy data for the oral MEK inhibitor trametinib: a phase 1 dose-escalation trial.The Lancet. Oncology. 2012;13(8):773-781.

Urner-Bloch U, Urner M, Stieger P, et al. Transient MEK inhibitor-associated

retinopathy in metastatic melanoma. Annals of oncology : official journal of theEuropean Society for Medical Oncology / ESMO. 2014;25(7):1437-1441.van Dijk EH, van Herpen CM, Marinkovic M, et al. Serous Retinopathy Associated withMitogen-Activated Protein Kinase Kinase Inhibition (Binimetinib) for MetastaticCutaneous and Uveal Melanoma. Ophthalmology. 2015;122(9):1907-1916.

McCannel TA, Chmielowski B, Finn RS, et al. Bilateral subfoveal neurosensory retinaldetachment associated with MEK inhibitor use for metastatic cancer. JAMAOphthalmol. 2014;132(8):1005-1009.


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Case History:A 47-year-old woman was referred by her comprehensive

ophthalmologist for an evaluation of macular pigment abnormalities. She hadcomplained of visual changes that were primarily related to uncorrected refractive error.She denied a history of macular disease in both parents but reported that a sister hadrecently been diagnosed with macular pigment changes.

Clinical examination:On presentation, best-corrected visual acuity was 20/20 in botheyes. Dilated funduscopic examination showed bilateral findings of focal areas ofpigment hyperplasia in the paramacular region, forming a ring-like pattern in her botheyes. Additional RPE changes similar to the macular alterations were noted nasal to theoptic disc. Fluorescein angiography showed an absence of a dark choroid. Hypo-fluorescent areas corresponding to the granular RPE mottling were seen. There was no

evidence of retinal vascular abnormalities or leakage. Multi-color scanning laserimaging highlighted the RPE changes. Near infrared reflectance showed hyper-reflectivity corresponding to the granular RPE mottling. Spectral-domain opticalcoherence tomography (OCT) showed areas of hyper-reflective RPE depositscorresponding to the clinically noted RPE changes. Choroidal thickness was normal inboth eyes. Fundus autofluorescence (AF) imaging showed peripapillary involvement.There was hyperautofluorescence of the RPE lesions in both eyes and granularhypoautofluorescence changes diffusely throughout the central macula. The fovea waslargely spared. Ultra-widefield fundus AF showed no peripheral involvement.

A review of systems disclosed pre-diabetes and recent hearing difficulties. Of note, the

patient was undergoing a workup for episodes of dizziness and headache that revealedmultiple supratentorial white matter lesions on neuroimaging. Considering themultimodal imaging findings and her medical history, the pigmentary retinopathyassociated with the mtDNA A3243G mutation was suspected. Genetic testing wasperformed and the mtDNA A3243G point mutation was identified confirming a diagnosisof MELAS.

Diagnosis

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

(MELAS)


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References

Sue CM, Mitchell P, Crimmins DS, et al. Pigmentary retinopathy associated with themitochondrial DNA 3243 point mutation. Neurology 1997;49: 1013-7.

Smith PR, Bain SC, Good PA, et al. Pigmentary retinal dystrophy and the syndrome ofmaternally inherited diabetes and deafness caused by the mitochondrial DNA 3243tRNA(Leu) A to G mutation. Ophthalmology 1999;106: 1101-8.

Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243Gmutation. Mitochondrion 2007;7: 230-3.

Daruich A, Matet A, Borruat FX. Macular dystrophy associated with the mitochondrialDNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two casesand review of the literature. BMC Ophthalmol 2014;14: 77.

Strauss DS, Freund KB. Diagnosis of maternally inherited diabetes and deafness(mitochondrial A3243G mutation) based on funduscopic appearance in anasymptomatic patient. Br J Ophthalmol 2012;96: 604.

Isashiki Y, Nakagawa M, Ohba N, et al. Retinal manifestations in mitochondrialdiseases associated with mitochondrial DNA mutation. Acta Ophthalmol Scand1998;76: 6-13.


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Case History:A 16-year-old white female with a history of neurofibromatosis type 1(NF1) complained of blurred vision with prolonged light and dark adaptation and

reported that adjustment changes in ambient lighting was taking 510 minutes.Symptoms had arisen gradually over several weeks. The right eye was amblyopic dueto a glioma of the right optic nerve with chiasmal and bilateral optic tract involvement.The patient had received a 3-year chemotherapy regimen in childhood but radiotherapyhad never been administered.

Clinical Examination:At presentation, corrected visual acuities were counting fingersat 6 inches in the right eye and 20/150 improving to 20/40 with pinholes in the left eye.Lisch nodules were seen in both eyes with right iris hyperchromia and a left posteriorpolar cataract. There were no cells in the anterior chambers and vitreous, andintraocular pressure was 10mmHg bilaterally. Ophthalmoscopy revealed extensive and

severe attenuation of the retinal vasculature in the left eye involving mainly the temporaland inferior peripheries, with several areas of collateralization. The left inferior secondorder branch venule was fibrosed. Foci of neovascularization were noted along theborder of ischemic areas of retina. The findings were more readily appreciated on red-free imaging that also revealed vascular tortuosity in the superotemporal quadrant ofthe right retina. Both optic discs were pale. Ultra-widefield fluorescein angiographyrevealed the full extent of peripheral vascular closure and pruning with multiple foci ofnascent and established neovascularization throughout the fundus manifesting ashyperfluorescence with leakage. Leakage was also observed from the perifovealcapillary bed due to severe telangiectasis with irregular enlargement of the fovealavascular zone. Fluorescein angiography of the right eye showed capillary closure

localized to the superotemporal far periphery. Optical coherence tomography showednormal foveal contours in both eyes with physiological macular thickness.Laboratory investigations including blood count, electrolytes and inflammatory markerswere unremarkable, and thrombophilia and homocysteinuria were excluded. Cranialmagnetic resonance imaging showed enlargement of the chiasm and of both opticnerves and optic tracts, with no associated enhancement, consistent with optic pathwayand hypothalamic glioma. These findings were unchanged compared with previousimaging. A small aneurysm of the cavernous right internal carotid artery was suspectedand confirmed by computed tomography angiography.

Diagnosis

Retinal ischemia and neovascularization secondary to neurofibromatosis type 1 (NF1)


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References

Destro M, D'Amico DJ, Gragoudas ES, et al. Retinal manifestations ofneurofibromatosis. Diagnosis and management. Archives of ophthalmology. May1991;109(5):662-666.

Shields JA, Pellegrini M, Kaliki S, Mashayekhi A, Shields CL. Retinal vasoproliferativetumors in 6 patients with neurofibromatosis type 1. JAMA ophthalmology. Feb2014;132(2):190-196.

Mori F, Kawai M, Sato E, Igarishi S, Hikichi T, Yoshida A. Branch retinal vein occlusionin a Japanese patient with neurofibromatosis 1. Japanese journal of ophthalmology.Nov-Dec 2001;45(6):634-635.

Barrall JL, Summers CG. Ocular ischemic syndrome in a child with moyamoya diseaseand neurofibromatosis. Survey of ophthalmology. May-Jun 1996;40(6):500-504.

Erickson RP, Woolliscroft J, Allen RJ. Familial occurrence of intracranial arterialocclusive disease (Moyamoya) in neurofibromatosis. Clinical genetics. Sep1980;18(3):191-196.

Witmer MT, Levy R, Yohay K, Kiss S. Ophthalmic artery ischemic syndrome associatedwith neurofibromatosis and moyamoya syndrome. JAMA ophthalmology. Apr2013;131(4):538-539.

Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels inneurofibromatosis type 1: report of 12 cases. The British journal of ophthalmology. Mar2002;86(3):282-284.


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Karadimas P, Hatzispasou E, Bouzas EA. Retinal vascular abnormalities inneurofibromatosis type 1. Journal of neuro-ophthalmology : the official journal of theNorth American Neuro-Ophthalmology Society. Dec 2003;23(4):274-275.

Moadel K, Yannuzzi LA, Ho AC, Ursekar A. Retinal vascular occlusive disease in a child

with neurofibromatosis. Archives of ophthalmology. Aug 1994;112(8):1021-1023.

Tholen AM, Messmer EP, Landau K. Peripheral retinal vascular occlusive disorder in ayoung patient with neurofibromatosis 1. Retina. 1998;18(2):184-186.

Pichi F, Morara M, Lembo A, Ciardella AP, Meduri A, Nucci P. Neovascular glaucomainduced by peripheral retinal ischemia in neurofibromatosis type 1: management andimaging features. Case reports in ophthalmology. Jan 2013;4(1):69-73.


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Case 1Carol L Shields, MD

A 58-year-old woman presented with severe left eye pain with radiation to the left sideof her face associated with decreased visual acuity for 8 months. She recalled stage 4

lung adenocarcinoma diagnosed in 2009 with metastasis to the left lung and lymphnodes. A full body positron emission tomography (PET) was negative forextrapulmonary metastasis. She refused palliative treatment with Tarceva. The patienthad seen many ophthalmologists and was given several different diagnoses includingposterior scleritis, trigeminal neuralgia, and choroidal metastasis.

At our visit, visual acuity was 20/20 right eye and 20/80 left eye. The anterior segmentexam was normal in both eyes. The right fundus was normal. The left fundus showedbullous retinal detachment and a flat peripapillary amelanotic choroidal mass measuring16 x 10 x 2.6 mm. The mass was subtle and easily confused with RPE alterations.EDI-OCT showed subretinal fluid and a lumpy bumpy surface topography, suggestive

of metastasis. The patient was scheduled for fine needle aspiration biopsy and externalradiotherapy.

The choroid is the most common site of ocular metastatis.

Choroidal metastasesemanate from relatively common tumors, most often carcinoma of the breast (53%) orlung (20%). Bilateral, multifocal lesions are more suggestive of primary breast cancer.Metastasis from lung cancer tend to be unilateral (80%), relatively large in size (meanbase of 9 mm and thickness of 3 mm), and presents before the lung cancer is detectedin nearly 50% of cases. It is under-recognized that another prominent symptom of

choroidal metastasis is unrelenting low-grade ocular pain (7%). The symptom ofpain seems to be more common in patients with lung cancer metastasis (14%).

Diagnosis

Painful choroidal metastasis


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References

Shields CL, Shields JA, Gross NE, Schwartz GP, Lally SE. Survey of 520 eyes withuveal metastases. Ophthalmol 1997;104:1265-76.

Shah, SU, Mashayekhi A, Shields CL, et al. Uveal metastasis from lung cancer: Clinicalfeatures, treatment, and outcome in 194 patients. Ophthalmol. 2014;121:352-7.


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A 19-month old girl presented with left exotropia and visual acuity of fix and follow ineach eye. The left eye revealed an epimacular membrane with retinal traction and gray

discoloration of the underlying retina, consistent with combined hamartoma. At age 5years, the hamartoma remained unchanged. Time domain OCT demonstratedepiretinal membrane with undulation of the retina, RPE, choroid and sclera. Horizontaltraction was observed clinically and there was no vertical vitreoretinal traction on OCT.

At age 10 years, time domain OCT depicted smooth retinal surface, dense epiretinalmembrane, retinal thickening with loss of detail, smooth RPE layer and abrupt thinningof the underlying choroid with slight outward bowing. At age 14 years, visual acuity wasreduced to counting fingers OS and spectral domain EDI-OCT depicted thick epiretinalmembrane with horizontal traction causing folded retina, and progressive focal

choroidal excavation bowing outward, with choroidal thinning and scleral bowing,precisely underlying the hamartoma.

In 2006, Jampol et al described a myopic patient with a peculiar finding on time domainOCT showing unilateral cup-shaped depression of the subfoveal retinal pigmentepithelium (RPE) and outward choroid bowing. The overlying retina was flat and visualacuity was preserved. Later, Margolis et al illustrated the EDI-OCT features of thismicrostaphyloma in 13 eyes and used the term focal choroidal excavation. Theyfound this condition most often in eyes with mild myopia, manifesting as a yellow spot inthe foveal region with EDI-OCT features of an abrupt cup-shaped RPE-choroidaldepression with focal choroidal thinning. They noted two retinal patterns in which theretina appeared attached to the RPE (conforming) or separated from the RPE(nonconforming).

Little is known about the cause of focal choroidal excavation, but a congenital originhas been hypothesized because most demonstrate no previous insult.

However,

secondary focal choroidal excavationhas been associated with age-related maculardegeneration, central serous chorioretinopathy, polypoidal choroidal vasculopathy, and

Best disease.

In this case, focal choroidal excavation gradually developed over 10years in a child with combined hamartoma of the retina and RPE.

Diagnosis

Focal choroidal excavation


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References

Jampol LM, Shankle J, Schroeder R, et. al. Diagnostic and therapeutic challenges.Retina 2006;26:1072-6.

Margolis R, Mukkamala SK, Jampol LM, et. al. The expanded spectrum of focalchoroidal excavation. Arch Ophthalmol 2011;129):1320-5.

Sivalingam M, Say EAT, Shields CL. Evolution of focal choroidal excavation underlyingcombined hamartoma of the retina and retinal pigment epithelium in a child. Submittedfor publication.


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A 7 year old girl developed blurred vision and had an anterior uveitis that wasnonresponsive to topical steroids. There was a 1 year period of question whether the

uveitis was infectious or inflammatory. Hyphema developed off and on. the pressureelevated to 42 mm Hg. Two needle biopsies of the aqueous showed lymphocytesconsistent with inflammation. The patient was referred to us and fine needle aspirationbiopsy showed malignant small round blue cells with occasional rosette formation with

high mitotic activity, strongly suggestive of anterior segment retinoblastoma. Therewas no retinoblastoma in the posterior segment of the eye. The tumor was limited tothe anterior segment.

Treatment included systemic intravenous chemotherapy using six cycles of vincristine,etoposide and carboplatin followed by sterilization of the anterior segment with Iodine-125 plaque brachytherapy providing 3500 cGy (centigray) to the tumor apex. At 2 years

follow up, the patient is well without metastasis and with visual acuity of 20/40. Genetictesting proved somatic mutation.

Diagnosis

Anterior segment retinoblastoma

References

Grossniklaus HE, Dhaliwal RS, Martin DF. Diffuse anterior retinoblastoma. Retina1998;18:238-41.

Khetan V, Sudrik S, Singh S, Gopal L, Krishnakumar S. Diffuse anterior retinoblastomawithout undetectable retinal involvement. J Pediatr Ophthalmol Strabismus 2011;15:48Online: e 7-9.


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Shields CL, Ghassemi F, Tuncer S, Thangappan A, Shields JA. Clinical spectrum ofdiffuse infiltrating retinoblastoma in 34 consecutive eyes. Ophthalmol 2008; 115: 2253-8.


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A 57 year old woman with choroidal nevus underwent EDI-OCT and was found to have

an unusual scleral bulge and choroidal thinning temporal to the macular region in eacheye. This feature is a normal EDI-OCT finding as originally discovered by Dolz-Marco etal.

Dolz-Marco et al. later evaluated swept source (SS) tomographic characteristics offocal inferotemporal scleral bulge with choroidal thinning in 166 healthy eyes of106 patients and found that 13% (22 eyes of 16 patients) demonstrated a focal scleralbulge. The scleral bulge was not visible ophthalmoscopically in any case. By SS-OCT,the scleral bulge had a mean basal diameter of 3225 microns and mean distanceinferotemporal to the foveola of 2261 microns. Compared to normal submacular scleralthickness, the inferotemporal scleral bulge was a mean of 107 microns thicker and the

mean overlying choroidal thickness was 26 microns less compared to immediatelyadjacent site. The overlying retinal pigment epithelium and inner retinal contour werenormal in all cases. So, in summary, focal inferotemporal scleral bulge withchoroidal thinningis found in 13% of healthy eyes and the clinical significance of thisfinding is under evaluation.

Diagnosis

Focal Inferotemporal Scleral Bulge with Choroidal Thinning

References

Dolz-Marco R, Gallego-Pinazo R, Lpez-Glvez MI, Daz-Llopis M, Shields CL. FocalInferotemporal Scleral Bulge With Choroidal Thinning: A New Observation on High-Penetration Optical Coherence Tomography. Retina. 2014 Aug 28 [Epub ahead ofprint].

Dolz-Marco R, Gallego-Pinazo R, Lpez-Glvez MI, Tembl JI, Daz-Llopis M, ShieldsCL. Focal Inferotemporal Scleral Bulge with Choroidal Thinning: An Under-RecognizedTomographic Feature. Submitted for publication


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Case 1Jerry A Shields, MD

Early history

A 22 month old girl was noted to have progressive leukocoria OS and was found tohave a dense cataract with no view of the fundus. A large transillumination shadow wasseen in the ciliary body. Other than melanoma, what are possible causes of a densecataract in this child with a transillumination shadow?

Final history.

UBM showed a large ciliary body mass and medulloepithelioma was diagnosed andenucleation performed. Histopathology revealed a malignant teratoidmedulloepithelioma. The interesting history histopathology of this childhood tumor willbe discussed.

Diagnosis

Malignant teratoid medulloepithelioma

References

Kaliki S, Shields CL, Eagle RC Jr. Vemuganti G, Almeida A, Manjandavida FP, MulayK, Honavar SG, Shields JA. Ciliary body medulloepithelioma: Analysis of 41 cases.Ophthalmology 2013;?? 1-8

Shields JA, Eagle RC, Ferguson K, Shields CL. Tumors of the nonpigmentedepithelium of the ciliary body. The 2013 Lorenz E. Zimmerman Tribute Lecture. Retina2014


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Early history

An 84 year old woman was referred for an unusual dark orbital/conjunctival mass.While I was taking her history and scratching my head, she reached in her purse andpulled out a test tube that she had carried as a souvenir for 25 years. The diagnosisbecame immediately obvious. How could a test tube provide the diagnosis?

Final history.

The patient had retinal detachment surgery 30 years earlier and the retinal surgeonused MIRAgel to facilitate closure of the retinal break. Because of several reports ofmigrating MIROgel implants that resembled orbital tumors, it was subsequently takenoff the market. Other similar cases with be briefly shown.

Diagnosis

Extruded MIRAget scleral buckle

Reference

Shields CL, Demirci H, Marr BP, Mashayekhi A, Materin MA, Shields JA. ExpandingMIRAgel

TMscleral buckle simulating an orbital tumor in 4 cases. Ophth Plast Reconstr

Surg 2005; 21:32-8


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Early history

A 57 year old man had mild left exotropia and amblyopia since early childhood and wastreated with patching with mild improvement. At age 57 he had very noticeableworsening of vision in the left eye with marked progression of the exotropia. What couldhave caused this?

Final history.

He was referred to us because fundus examination revealed a mushroom shaped massin the macular area and extending beneath the fovea. He was treated with plaquebrachytherapy and is doing well after almost 2 years. This is an unusual example of achoroidal melanoma in a patient whose initial complaint and concern was progressive

exotropia. It is tempting to speculate that he could have had a choroidal nevus sinceearly childhood, located partly under the fovea and causing mild visual loss andamblyopia. When the melanoma developed and extended further beneath the fovea theexotropia progressed due to worsening of fixation.

Diagnosis

Progressive exotropia from a uveal melanoma.


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Early history

In 1990 a 69 year old woman was referred for evaluation and management of a

macular lesion in her right eye. In addition she had congenital myelinated retinal nervefiber (MNFs) in the same eye nasally. After treatment of the primary lesion the MNFsgradually disappeared and were completely resolved after 12 years. What treatmentwas done for the macular lesion that caused the MNFs to disappear?

Final history

The patient had a choroidal melanoma in the macular area that was treated with plaquebrachytherapy. The melanoma showed a favorable response but there was radiation

retinopathy as expected. It appears that the irradiation accounted for the disappearanceof the MNF. There are several other causes of resolution of retinal MNFs that will be

discussed.

Diagnosis

Disappearing myelinated nerve fibers (s/p brachytherapy of uveal melanoma)

Reference

Mashayekhi A, Shields CL, Shields JA. Disappearance of myelinated retinal nervefibers after plaque radiotherapy for choroidal melanoma. Retina 2003;23:572-3.

(This article quotes several other conditions that have been associated withdisappearance of MNFs. These are mentioned in the oral presentation.


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Case AA

Lee M Jampol, MD

The patient is a 19 year old female. She was first seen a year ago with a complaint ofdistorted vision in the left eye; she carried a diagnosis of histoplasmosis. The

symptoms started in March of 2014. She has received a variety of injections into her

eye, with some transient improvement in vision, but then it dropped again. She has

been seen by us and the vision has been 20/20-. There has been no anterior chamber

reaction, no vitreous cells, she has a macular lesion in the left eye. She has had

workup consisting of ultrasound, OCT, fluorescein, TB, and sarcoid, without a certain

diagnosis. Steroids (po) did not affect the lesion. She is presented as an unknown.

References

Unknown


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Case MK

Lee M Jampol, MD

The patient is as 7 year old twin (fraternal), with a family history of von Hippel disease.

She has no known systemic or ocular findings. As part of a family screen, a lesion was

noted in her left macula, it is clearly seen on the OCT. The OCT Angiography shows

that the lesion is not vascular. Is this an angioma? Is this is a stage of a tumor prior to it

being vascularized?

Reference

Chew, EY. Schachat, AP Capillary Hemangioblastoma of the Retina and von Hippel-Lindau Disease in RETINA S.J. Ryan, Editor, 5

thEd., page 2156-2163.


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Case EH

Lee M Jampol, MD

The patient is a 56 year old female, she has been followed by me with a diagnosis of

Best disease. She says her mothers sister and her grandmothers sister had similar

retina problems. She has 3 sisters and a son with no apparent retinal problems. The

examination in the right eye from 2009 showed an excavated lesion. The examination

in the left eye has shown a serous detachment of the retina with vitelliform material

under the retina. The diagnosis has been Best disease but she has not been

genetically tested. A resemblance to North Carolina Macular dystrophy has been noted

and the DNA has been sent to Ed Stone for molecular diagnosis.

Reference

K.W. Small, et al. North Carolina Macular Dystrophy is caused by dysregulation of the

retinal transcription factor PRDM13. Ophthalmol 2015 (in press)


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Case RC

Lee M Jampol, MD

The patient is a 61 year old, Mexican Male. In August of 2014 he was in Belize, where

he went through caves and was exposed to bats. In the fall of 2014, he noted problems

with vision in his right eye. He was noticed to have changes in the retina and was

treated with steroids and avastin. The vision stabilized until the spring of 2015, when

he again noticed symptoms in the right eye. He was sent down for a differential

diagnosis of Serpiginous vs. Multi-focal choroiditis. He was noted to have changes in

his right eye with a meandering track of scarring beginning at the disk, going temporal

to the macular. This was associated with inflammation of the eye, swelling of the retina,

a white spot at the tip of the lesion, and distortion of the fovea. He was treated with

thermal laser, steroids, Albendazole, Bactrim, and a vitrectomy to remove scar tissue.

The diagnosis remains uncertain.

References

none


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Case JT

Lee M Jampol, MD, Chicago, IL

The patient is a 15 year old female referred down because of vision loss in the right

eye. She is in apparent good health; she has been noted to have decreased in vision in

first the right eye, and recently in left eye as well. This vision loss has occurred since

2013. She denies trouble with dark adaptation, in fact, she denies trouble with her eyes

and seems totally oblivious to her visual loss; she complains of headaches. The

examination shows a vision of hand motions in the right eye and 20/40 in the left eye.

Visual field testing shows a very dense central scotoma in the right eye. In the mid

periphery of both eyes there are small white dots seen swirling out towards the

periphery, this is more marked in the right than on the left. EOG testing was normal,ERG testing showed values in the lower range of normal with a lower value in the right

eye.

Diagnosis

? Fundus Albipunctatus (genetic testing pending)

References


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Case AF

Lee M Jampol, MD

The patient is a 29 year old female, in 2013 she was seen elsewhere, she had some

visual loss in the right eye. She was told she had central serous retinopathy. This

resolved within approximately 2 months. Then in January of 2014 she complained of

flashing spots temporally in the left eye, her vision was still 20/20 in both eyes. Our

evaluation showed multiple lesions with white spots throughout the left fundus. The

fovea was ok. The question was, is this MEWDS or multifocal choroiditis. No treatment

was given. She was seen back in March of 2014 and her symptoms were improving; a

diagnosis was made. She came back in June 2014 again complaining of more spots

and sparkles in the left eye. Her vision was 20/30. This time she had definite fovealgranularity in the left fovea and new white spots scattered in the fundus. This was at

least her third episode, she returned in August 2014 and the vision in the left eye

improved to 20/15, there was still some fovea granularity, no white spots were present.

The right fovea was also thought to be slightly granular. The patient was checked a

year later. She had not had any problems over the year. She had diminished

granularity in the fovea of the left eye, she had some mild pigment granularity in the

areas in the mid-periphery.

Diagnosis

MEWDS (with recurrent symptomatology OS-but inactive for the last year)

Reference

Mirza, R. Jampol, LM: White Spot Syndromes and Related Diseases in RETINA

SJ Ryan, Editor, 5thEd., pages 1364-1368


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Case LP

Lee M Jampol, MD

17 year old male previously in good health, seen in retina clinic1 day after referral from

comprehensive ophthalmologist for bilateral vision loss. Had presented 6 weeks earlier

with decreased vision. Part-time metal welder, denies any ocular trauma.

Past Medical History: Negative

Past Ocular History: Negative

Family History: Mother and Father DM

Recurrent, self-induced laser pointer maculopathy can masquerade as an organic

process. Hand-held laser pointers pose threat of vision loss and power labels oftenunderrepresent true laser power. En faceOCT can be used to follow distribution of

single layer lesions

References

Lee GD, Baumal CR, Lally, D. et al: Retinal injury after inadvertent hand-held laser

exposure. Retina 2014; 34. 2388-96

Rusu I, Sherman J. et al: Spectral-domain optical coherence tomography and fundus

autofluorescence findings in a case of laser-pointer induced maculopathy Retina Cases

Brief Report 2013; 7:371-3


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Documents

AAO 2015 Instruction Course (Mystery Retina-Interactive Discussion of Cases)-Final Handout