leukokiria

5/28/2018 leukokiria

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Leukocoria


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Causes of LeukocoriaDIFFERENTIAL DIAGNOSISOF LEUKOCORIA

CataractRetinoblastoma

Toxocariasis

Coats disease

ROP

PHPVRetinal detachment

Coloboma

Retinal dysplasia

Norries disease


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Developmental CataractsNontraumatic unilateral cataracts first detected after6 months of age also present specialconcerns.Usually, the precise age of onset is not

known. In some cases, particularly those associatedwith thinning of the posterior lens capsule (posteriorlenticonus or lentiglobus), the duration of significantvisual deprivation may have been relatively brief. Ahistory of recent-onset strabismus or leukocoria,

preservation of good alignment with central steadyfixation (even on a light), family photographsdocumenting symmetrical red fundus reflexes, orpediatrician's records of red reflex observation canhelp to establish a good visual prognosis.


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RetinoblastomaRetinoblastoma is the most common intraoculartumor of childhood, accounting for 1% of childhoodcancer deaths in the United States and 5% of

blindness in children. The incidence is 1 in 15,000 to1 in 20,000 live births.

Overall mortality from retinoblastoma decreased from95% a century ago. With modern diagnostic and

therapeutic advances, the mortality rate frommetastatic or recurrent retinoblastoma has been aslow as 5%.


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RETINOBLASTOMACLINICAL

MANIFESTATIONS

Leukocoria (60%)Strabismus (20%)

OTHER- Uveitis, Orbital

cellulitis, Hyphaema,Heterochromia,Glaucoma, Bupthalmos


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RETINOBLASTOMA


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RetinoblastomaThe disease is bilateral in approximately 30%of cases. The average age at diagnosis is 18

months and 90% of patients are diagnosedbefore the age of 3 years. Less than 10% ofretinoblastoma suffers have a family historyof the disorder, 90% of cases aresporadic.

Of the sporadiccases, the responsiblemutation is in a germ cell in 25% of casesand in a somatic cell in 75% of cases


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GENETICS

Retinoblastoma gene is a recessive oncogene of 180,000kilobases.

Located chromosome- 13q14

Knudson two hithypothesis:-Germinal cells have one defective and one normal RB gene.

A somatic mutation results in loss of the normal RB gene andhence retinoblastoma develops (somatic mutations occurfrequently enough in the developing retina, therefore lesions

usually affect both eyes)

In addition, the first child of a parent who had had a unilateralretinoblastoma has a 4% chance of developing the disease


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PATHOLOGY

Arise in primitive photoreceptor cells.Characteristic histology:

Retinoblastomas are composed of poorly differentiated neuroblasticcells with scanty cytoplasm and prominent basophilic nuclei.

The tumour proliferates rapidly, with a tendency to outgrow its blood

supply and undergo spontaneous necrosis. Necrotic tumour beingeosinophilic stain pink.

Characteristic Flexner-Wintersteiner rosettes represent an attempt atretinal differentiation. Histologically, a ring of cuboidal cells is seensurrounding a central lumen. Cuboidal tumour cells with basallyoriented nuclei arranged around a central lumen.

Calcification is another feature of retinoblastomas, usually occurring innecrotic areas. Calcium stains with H&E. It is worth identifying calciumin suspect eyes by ultrasound, or CT scan to differentiate

retinoblastomas from other tumours.


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PATHOLOGY


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Retinoblastoma


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MANAGEMENTEMPIRICAL GENETIC COUNSELLING

ENUCLEATION

unilateral, poor visual prognosis

PLAQUE4-12mm +/- vitreous seeding

EXTERNAL BEAM

>12mm, multiple foci, only eye

LASERconsider- indirect, xenon arc

cryotherapy if


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Non-Retinoblastoma

MalignanciesUnfortunately, children who have geneticretinoblastoma and survive their primaryintraocular cancer have a substantiallyincreased risk of death from one or morenonretinoblastoma malignancies over thecourse of their lifetimes, up to 35% ofchildren who have had a bliateral

retinoblastoma and external beam radiationtherapy will develop a second cancer by age25 years


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Congenital retinal

telangiectasis (Coats' disease)Congenital retinal telangiectasis (Coats' disease) is anidiopathic retinal vascular disorder that usually affectsyoung male patients unilaterally in their first or

second decade of life. Congenital retinaltelangiectasis, however, can affect patients of eithergender and become manifest at any age. Up to onethird of patients are older than 30 years of age at thetime of presentation.There is no defined familial

inheritance. Patients may present with decreasedvision, as well as strabismus or leukocoria in children.The hallmark feature of congenital retinaltelangiectasis is localized fusiform aneurysmaldilations of the retinal vessels reminiscent of tiny light

bulbs


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Retinal vascular anomaliesThe vascular anomalies can occur anywhere in the fundus andmay involve the capillaries, arteries, and veins.

Other findings may include vascular loops and beading, retinal

neovascularization, hemorrhagic retinal macrocysts, andsegmentally dilated capillaries.

Leakage from the incompetent vasculature may lead to retinaledema, lipid deposition, or, in severe cases, an exudative retinaldetachment.

The extent of retinal involvement is variable.Infants and children often are more severely affected withextensive vascular involvement and massive subretinal lipidexudate.


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Persistent hyperplastic primary

vitreous (PHPV)Persistent hyperplastic primary vitreous (PHPV) is acongenital anomaly in which the primary vitreousfails to regress in utero. Highly vascular

mesenchymal tissue nurtures the developing lensduring intrauterine life. In PHPV, the mesenchymaltissue forms a mass behind the lens.

A gray-yellow retrolental membrane may produceleukocoria, with the subsequent suspicion of

retinoblastoma.In PHPV, the globe is white and slightlymicrophthalmic. Patients have no history ofprematurity or oxygen administration.


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RETINOPATHY OF PREMATURITY (ROP)

Vasoproliferative retinopathy affectingpremature infants exposed to high oxygen

INCIDENCEPrematurity (


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In the early active stages of ROP, a band ofglomeruloid capillaries proliferates at the junctionbetween the peripheral nonperfused and the

posterior perfused retina. The proliferating vesselsbreak through the internal limiting membrane andinvade the vitreous, inciting fibrosis and contraction.In the later cicatricial stages of ROP, the retina isfolded on itself by the organized vitreous, forming a

fibroneural mass that drags the macula and optic disctemporally. The end stage of the disease is markedby total retinal detachment, leukocoria, blindness,and phthisis bulbi.


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LOCATION

zone 1 - centred ondisc, 2x disc to fovea

distancezone 2 - outer limitequator temporally, oranasally

zone 3 - temporalperipheral crescent

in clock hoursrushdisease- SI-SV in 2/52

CLASSIFICATION - STAGING

SI- flat demarcation line withbranching blood vessels up to line

SII- ridge with volume, blood

vessels enter ridgeSIII- ridge + extraretinalfibrovascular proliferation

SIV- retinal detachment- a (notinvolving the fovea), b (involvingthe fovea)

SV- total RD, open or closed funnelplus disease- dilated tortuousvessels in posterior pole, vitreoushaze and poor mydriasis


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LOCATION

zone 1 - centred ondisc, 2x disc to foveadistance

zone 2 - outer limitequator temporally, oranasally

zone 3 - temporalperipheral crescent


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Toxoplasmosis

Toxoplasmosis gondii is an obligateintracellular protozoa causing up to50% of cases of posterior uveitis.

Ocular infection is characterised byfocal necrotising retinochoroiditis withvitritis.In congenital infection the eye

may also be affected by cataract,microphthalmos, and optic atrophy


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Chorioretinitis and congenital

toxoplasmosisThe main clinical manifestations of the symptomaticform of toxoplasmosis are microcephaly orhydrocephaly, cerebral palsy, epilepsy, mental

retardation, cerebral calcification, and chorioretinitis.The most important signs in the diagnosis ofcongenital toxoplasmosis are the three Cs:convulsions, calcification (intracranial), andchorioretinitis. Chorioretinitis is present in 80% of

children with congenital toxoplasmosis and is mostoften bilateral; toxoplasmosis is considered one ofthe most common causes of chorioretinitis.


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Congenital Toxoplasmosis

Highest transmission occurs in the IIIrd trimester

90% of congenital infections have no clinical signsEarlier infection occurs in pregnancy - worse potentialoutcome

Triad:- convulsions,

cerebral calcification

and chorioretinitis

Eye - chorioretinitis, cataracts, microphthalmos,panuveitis, optic atrophy


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Investigation of

ToxoplasmosisELISA IgM in neonates, rising IgG in adults

(although not that helpful in adults).

Fluorescein angiography (hypofluorescencein the early stages and then progressiveleakage).

Indocyanine angiography - multiple small

dark spots may be seen around the visiblelesions implying the affected retina is greaterthan apparent initially. This sign may beuseful in assessing the effect of treatment.


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Some indications for active

treatment of toxoplasmosis

Lesions that involve the macula,

papillomacular bundle or optic disc

Large, active lesions should be treated.

Immunocompromised patients should

be treated.


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Ocular toxocariasisOcular toxocariasis is a unilateraldisorder that presents as strabismus,

leukocoria or decreased vision. Retinaldamage is the result of the host'sinflammatory response to the singleinfection nematode, which must usually

be dead before the uveitis can develop.The posterior uveitis may be of severeintensity.


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Toxocariasis subretinal granulomaOcular toxocariasis may present withdecreased vision, strabismus, leukocoria, or

uveitis.Most commonly a subretinal granuloma ispresent in the posterior pole in an otherwisequiet eye.

In the early stages, it is elevated above theretina and may resemble a neoplasm.


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Retinal detachment in childhoodRetinal detachment in childhood can be confusedwith retinoblastoma, and vice versa. The possibility ofan underlying retinoblastoma should always be

considered when a child presents with retinaldetachment and vitreous hemorrhage, even when ahistory of trauma is obtained. Appropriatepreoperative studies (ultrasonography or computed

tomography) are indicated; if vitrectomy isperformed, the specimen should be submitted forcytologic examination.


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Retinal detachment in

childhoodRetinal detachment in childhood can beconfused with retinoblastoma, and vice

versa. The possibility of an underlyingretinoblastoma should always beconsidered when a child presents with

retinal detachment and vitreoushemorrhage, even when a history oftrauma is obtained.


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Norrie diseaseNorrie disease, or the progressiveoculoacousticocerebral degeneration ofNorrie, is a rare, X-linked recessive heritable

disorder characterized by bilateral leukocoriacaused by retinal detachment. Affected boysclassically have a triad of blindness, deafness,and mental retardation. Apparent at birth or

in early infancy, the ocular findings usuallyprogress to phthisis bulbi. An identicaldisorder in a Maltese kindred is calledEpiskopi blindness.


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Retinal dysplasiaRetinal dysplasia and PHPV are characteristicocular findings in trisomy 13; in fact, trisomy13 was called retinal dysplasia before the

chromosomal defect was identified. Themultitude of systemic and ocular findingsfound in patients with trisomy 13 may includebilateral leukocoria. Rarely, retinal dysplasia

occurs unilaterally in the congenitallymalformed eyes of otherwise healthypersons.


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COLOBOMAOPTIC DISC COLOBOMA

Due to failure of closure of foetal fissureinferiorly

May be isolated disc or associated chorioretinalcoloboma

ISOLATED DISC COLOBOMARare,

Usually sporadic, some AD

Can be bilateral

Visual acuity varies from normal to NPL.

Associated- optic disc pit, hyaloid arteryremnant, myopia, posteriorlenticonus,transphenoidal encephalocoele,cardiac defects, VII palsy

RETINOCHOROIDAL COLOBOMA

ASOCIATIONS

Coloboma of iris, aniridia, PHPV,microphthalmos

Associated CVS, CNS and ear malformations


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CHARGE !CHARGE (For diagnosis at least 4 of the highlighted abnormalities arerequired).Colobomas,

Heart defects,

Choanal Atresia,

Retarded growth,

Genital abnormalities,

Ear abnormalities

CHARGE is also associated with facial palsy, micrognathia, cleft palate,pharyngeal incompetence, tracheo-oesophageal fistula, renal and cardiacabnormalities.

Note many other syndromes have colobomata.

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