Hearing lossGene: NDP
Created: 9 Feb 2016, 10:07 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessive
Created: 7 Feb 2016, 8:59 a.m.
Mode of inheritance
#305390:Exudative vitreoretinopathy 2, X-linked[Decreased visual acuityNystagmus (in some patients)Retinal foldRetinal tearRetinal detachmentDragged maculaAvascular peripheral retinaChorioretinal scarring in temporal peripheryFibrous tissue in temporal retinaVitreous degenerationRetinal holes (in some patients)Hyaloid remnant (in some patients)Retinal vascular tortuosity (in some patients)Retinal neovascularization (rare)Retinal deposits (rare)Microphthalmia (rare)Phthisis (rare)]; #310600:Norrie disease[Sensorineural deafness (onset in the second decade in 25 to 30% of patients); Intraocular retrolental masses, bilateral (' pseudoglioma' )Blindness in infancy or very early childhoodRetinal foldsRetinal detachmentPhthisical globeMicrophthalmiaRetinal dysgenesisRetinal dysplasiaVitreal opacitiesCorneal opacitiesShallow anterior chamberHistopathology shows rosettes of immature retinal cells in vascular connective tissueHyperplastic vitreousHypoplastic irisIris synechiaeCataractOptic atrophy; Mental retardation, progressive (50% of patients)Dementia (later onset)Seizures (rare); Psychosis (25% of patients)HallucinationsAggressive behavior]
NDP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert