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Causes of Leukocoria
DIFFERENTIAL DIAGNOSIS OF LEUKOCORIA
Cataract Retinoblastoma Toxocariasis Coat´s disease ROP PHPV Retinal detachment Coloboma Retinal dysplasia Norrie´s disease
Nontraumatic unilateral cataracts first detected after 6 months of age also present special concerns.Usually, the precise age of onset is not known. In some cases, particularly those associated with thinning of the posterior lens capsule (posterior lenticonus or lentiglobus), the duration of significant visual deprivation may have been relatively brief. A history of recent-onset strabismus or leukocoria, preservation of good alignment with central steady fixation (even on a light), family photographs documenting symmetrical red fundus reflexes, or pediatrician's records of red reflex observation can help to establish a good visual prognosis.
.000 to 1 in 20.Retinoblastoma Retinoblastoma is the most common intraocular tumor of childhood.000 live births. Overall mortality from retinoblastoma decreased from 95% a century ago. accounting for 1% of childhood cancer deaths in the United States and 5% of blindness in children. With modern diagnostic and therapeutic advances. the mortality rate from metastatic or recurrent retinoblastoma has been as low as 5%. The incidence is 1 in 15.
Uveitis. Hyphaema. Heterochromia. Bupthalmos . Orbital cellulitis.RETINOBLASTOMA CLINICAL MANIFESTATIONS Leukocoria (60%) Strabismus (20%) OTHER. Glaucoma.
The average age at diagnosis is 18 months and 90% of patients are diagnosed before the age of 3 years. 90% of cases are sporadic. Less than 10% of retinoblastoma suffers have a family history of the disorder. the responsible mutation is in a germ cell in 25% of cases and in a somatic cell in 75% of cases .Retinoblastoma The disease is bilateral in approximately 30% of cases. Of the sporadic cases.
Located chromosome.GENETICS Retinoblastoma gene is a recessive oncogene of 180.000 kilobases. A somatic mutation results in loss of the normal RB gene and hence retinoblastoma develops (somatic mutations occur frequently enough in the developing retina. therefore lesions usually affect both eyes) In addition. the first child of a parent who had had a unilateral retinoblastoma has a 4% chance of developing the disease .13q14 Knudson two hit hypothesis:Germinal cells have one defective and one normal RB gene.
a ring of cuboidal cells is seen surrounding a central lumen. Necrotic tumour being eosinophilic stain pink. with a tendency to outgrow its blood supply and undergo spontaneous necrosis.PATHOLOGY Arise in primitive photoreceptor cells. Calcification is another feature of retinoblastomas.Characteristic histology: Retinoblastomas are composed of poorly differentiated neuroblastic cells with scanty cytoplasm and prominent basophilic nuclei. . usually occurring in necrotic areas. Histologically. Cuboidal tumour cells with basally oriented nuclei arranged around a central lumen. It is worth identifying calcium in suspect eyes by ultrasound. The tumour proliferates rapidly. Calcium stains with H&E. Characteristic Flexner-Wintersteiner rosettes represent an attempt at retinal differentiation. or CT scan to differentiate retinoblastomas from other tumours.
vitreous seeding EXTERNAL BEAM >12mm. poor visual prognosis PLAQUE 4-12mm +/. multiple foci.indirect. xenon arc cryotherapy if <2dd in size CHEMOTHERAPY. if intracranial extension .MANAGEMENT EMPIRICAL GENETIC COUNSELLING ENUCLEATION unilateral. only eye LASER consider.
Non-Retinoblastoma Malignancies Unfortunately. up to 35% of children who have had a bliateral retinoblastoma and external beam radiation therapy will develop a second cancer by age 25 years . children who have genetic retinoblastoma and survive their primary intraocular cancer have a substantially increased risk of death from one or more nonretinoblastoma malignancies over the course of their lifetimes.
Congenital retinal telangiectasis. Patients may present with decreased vision. Up to one third of patients are older than 30 years of age at the time of presentation. as well as strabismus or leukocoria in children.There is no defined familial inheritance. The hallmark feature of congenital retinal telangiectasis is localized fusiform aneurysmal dilations of the retinal vessels reminiscent of tiny light bulbs .Congenital retinal telangiectasis (Coats' disease) Congenital retinal telangiectasis (Coats' disease) is an idiopathic retinal vascular disorder that usually affects young male patients unilaterally in their first or second decade of life. can affect patients of either gender and become manifest at any age. however.
Infants and children often are more severely affected with extensive vascular involvement and massive subretinal lipid exudate. Leakage from the incompetent vasculature may lead to retinal edema. retinal neovascularization. hemorrhagic retinal macrocysts. The extent of retinal involvement is variable. lipid deposition. and segmentally dilated capillaries. and veins. Other findings may include vascular loops and beading. or. . in severe cases. arteries.Retinal vascular anomalies The vascular anomalies can occur anywhere in the fundus and may involve the capillaries. an exudative retinal detachment.
Patients have no history of prematurity or oxygen administration. In PHPV. the globe is white and slightly microphthalmic. with the subsequent suspicion of retinoblastoma. A gray-yellow retrolental membrane may produce leukocoria. the mesenchymal tissue forms a mass behind the lens. . In PHPV. Highly vascular mesenchymal tissue nurtures the developing lens during intrauterine life.Persistent hyperplastic primary vitreous (PHPV) Persistent hyperplastic primary vitreous (PHPV) is a congenital anomaly in which the primary vitreous fails to regress in utero.
5% blindness .RETINOPATHY OF PREMATURITY (ROP) Vasoproliferative retinopathy affecting premature infants exposed to high oxygen INCIDENCE Prematurity (<32/40) Birth weight (30% < 1000gm affected) Oxygen duration 90% ROP regresses spontaneously.
In the later cicatricial stages of ROP. The proliferating vessels break through the internal limiting membrane and invade the vitreous. leukocoria. the retina is folded on itself by the organized vitreous. forming a fibroneural mass that drags the macula and optic disc temporally. inciting fibrosis and contraction. The end stage of the disease is marked by total retinal detachment. and phthisis bulbi. blindness. a band of glomeruloid capillaries proliferates at the junction between the peripheral nonperfused and the posterior perfused retina. .RETINOPATHY OF PREMATURITY (ROP) In the early active stages of ROP.
outer limit equator temporally. blood vessels enter ridge SIII.flat demarcation line with branching blood vessels up to line SII. 2x disc to fovea distance zone 2 .centred on disc.total RD.RETINOPATHY OF PREMATURITY (ROP) LOCATION zone 1 . b (involving the fovea) SV.ridge + extraretinal fibrovascular proliferation SIV.temporal peripheral crescent – in clock hoursrush disease. open or closed funnel plus disease.STAGING SI.a (not involving the fovea). ora nasally zone 3 .retinal detachment. vitreous haze and poor mydriasis .SI-SV in 2/52 CLASSIFICATION .ridge with volume.dilated tortuous vessels in posterior pole.
temporal peripheral crescent – .RETINOPATHY OF PREMATURITY (ROP) LOCATION zone 1 .centred on disc. ora nasally zone 3 . 2x disc to fovea distance zone 2 .outer limit equator temporally.
RETINOPATHY OF PREMATURITY (ROP) .
Toxoplasmosis Toxoplasmosis gondii is an obligate intracellular protozoa causing up to 50% of cases of posterior uveitis. Ocular infection is characterised by focal necrotising retinochoroiditis with vitritis.In congenital infection the eye may also be affected by cataract. and optic atrophy . microphthalmos.
cerebral palsy. and chorioretinitis. cerebral calcification. . calcification (intracranial).Chorioretinitis and congenital toxoplasmosis The main clinical manifestations of the symptomatic form of toxoplasmosis are microcephaly or hydrocephaly. epilepsy. and chorioretinitis. The most important signs in the diagnosis of congenital toxoplasmosis are the three Cs: convulsions. toxoplasmosis is considered one of the most common causes of chorioretinitis. Chorioretinitis is present in 80% of children with congenital toxoplasmosis and is most often bilateral. mental retardation.
convulsions. cataracts. cerebral calcification and chorioretinitis Eye .Congenital Toxoplasmosis Highest transmission occurs in the IIIrd trimester 90% of congenital infections have no clinical signs Earlier infection occurs in pregnancy .chorioretinitis. panuveitis. optic atrophy .worse potential outcome Triad:. microphthalmos.
multiple small dark spots may be seen around the visible lesions implying the affected retina is greater than apparent initially. Fluorescein angiography (hypofluorescence in the early stages and then progressive leakage). Indocyanine angiography .Investigation of Toxoplasmosis ELISA IgM in neonates. This sign may be useful in assessing the effect of treatment. rising IgG in adults (although not that helpful in adults). .
papillomacular bundle or optic disc Large. active lesions should be treated. .Some indications for active treatment of toxoplasmosis Lesions that involve the macula. Immunocompromised patients should be treated.
The posterior uveitis may be of severe intensity. Retinal damage is the result of the host's inflammatory response to the single infection nematode. which must usually be dead before the uveitis can develop.Ocular toxocariasis Ocular toxocariasis is a unilateral disorder that presents as strabismus. leukocoria or decreased vision. .
.Toxocariasis subretinal granuloma Ocular toxocariasis may present with decreased vision. leukocoria. it is elevated above the retina and may resemble a neoplasm. In the early stages. or uveitis. Most commonly a subretinal granuloma is present in the posterior pole in an otherwise quiet eye. strabismus.
.Retinal detachment in childhood Retinal detachment in childhood can be confused with retinoblastoma. even when a history of trauma is obtained. if vitrectomy is performed. The possibility of an underlying retinoblastoma should always be considered when a child presents with retinal detachment and vitreous hemorrhage. Appropriate preoperative studies (ultrasonography or computed tomography) are indicated. the specimen should be submitted for cytologic examination. and vice versa.
and vice versa. . even when a history of trauma is obtained. The possibility of an underlying retinoblastoma should always be considered when a child presents with retinal detachment and vitreous hemorrhage.Retinal detachment in childhood Retinal detachment in childhood can be confused with retinoblastoma.
deafness. Apparent at birth or in early infancy.Norrie disease Norrie disease. Affected boys classically have a triad of blindness. An identical disorder in a Maltese kindred is called Episkopi blindness. is a rare. and mental retardation. or the progressive oculoacousticocerebral degeneration of Norrie. . X-linked recessive heritable disorder characterized by bilateral leukocoria caused by retinal detachment. the ocular findings usually progress to phthisis bulbi.
Retinal dysplasia Retinal dysplasia and PHPV are characteristic ocular findings in trisomy 13. in fact. retinal dysplasia occurs unilaterally in the congenitally malformed eyes of otherwise healthy persons. Rarely. trisomy 13 was called retinal dysplasia before the chromosomal defect was identified. The multitude of systemic and ocular findings found in patients with trisomy 13 may include bilateral leukocoria. .
CNS and ear malformations . PHPV. posterior lenticonus. Associated. cardiac defects. hyaloid artery remnant.COLOBOMA OPTIC DISC COLOBOMA Due to failure of closure of foetal fissure inferiorly May be isolated disc or associated chorioretinal coloboma ISOLATED DISC COLOBOMA Rare. microphthalmos Associated CVS. aniridia. Usually sporadic. myopia.optic disc pit. some AD Can be bilateral Visual acuity varies from normal to NPL. VII palsy RETINOCHOROIDAL COLOBOMA ASOCIATIONS Coloboma of iris.transphenoidal encephalocoele.
Note many other syndromes have colobomata. renal and cardiac abnormalities. Genital abnormalities. micrognathia. CHARGE ! Retarded growth. Colobomas. Heart defects. tracheo-oesophageal fistula. Choanal Atresia. pharyngeal incompetence. . cleft palate.CHARGE (For diagnosis at least 4 of the highlighted abnormalities are required). Ear abnormalities CHARGE is also associated with facial palsy.