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Detailed information of NORRIE DISEASE
NORRIE DISEASE
DEFINITION:
A syndrome of retinal malformation characterized by dysplasia of
retina and associated with mental retardation and deafness.
EPIDEMIOLOGY:
- incidence: rare (about 100 cases reported)
- age of onset:
- risk factors:
- familial - x-linked recessive
- M only
PATHOGENESIS:
- differential diagnosis of leukocoria includes cataracts,
vitreous hemorrhage, congenital retinal folds, persistent
hyperplastic primary vitreous, retinopathy of prematurity,
retinal detachment, retinoblastoma, endophthalmitis, exudative
retinopathy (Coats Disease), toxoplasmosis, larval
granulomatosis
2. Genetic Defect
- genetic defect -> dysplasia of the retina -> leukocoria and
blindness
CLINICAL FEATURES:
- micro-ophthalmia with eventual phthisis bulbi (shrinkage of
the eyeball) by 10 yrs of age
- shallow anterior chamber
- corneal opacities (initially clear)
- bilateral leukocoria (white pupillary reflexes)
- dilated pupils with no light reflex
- iris - ectropion of pigment fringe
- hypoplastic
- posterior synechiae
- lens - initially clear -> opaque -> cataracts
- elongated ciliary process
- secondary glaucoma
- retina - retinal folds
- retinal detachment
- pseudotumor formation
- persistent hyperplastic primary vitreous
- blind form birth
2. Other Manifestations
- mental retardation (in 25-0% of cases)
- begins after 3 years of age
- severe sensorineuronal deafness (25-35%)
INVESTIGATIONS:
- hearing loss is cochlear in origin
2. Electrocochleography
MANAGEMENT:
- multidisciplinary approach
- Paediatrics, Ophthalmology, ENT
- hearing aids
- genetic counselling
2. Surgery
- early surgical intervention
- cataract extraction, vitrectomy, retinal detachment repair
- may prevent phthisis bulbi but does not improve vision
3. Prognosis
- irreversibly blind from birth
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Pediatric Database - NORRIE DISEASE
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