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PubMed · 5006136

Norrie's disease.

M Warburg
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Abstract

Norrie's disease is an X-linked disease presenting bilateral blindness at birth or during the first few months of life. A white retrolental membrane is seen initially, later the eyes usually become phthisic. Dementia or psychosis appears in about 25% and sensory hearing loss present in 1/5 or 1/4 of the blind males. Carriers are clinically unaffected. The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked cataract and congenital retinal detachment.

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Abnormalities, MultipleAdolescentAdultBlindnessBrainChildChild, PreschoolDementiaDiagnosis, DifferentialEyeEye AbnormalitiesEye NeoplasmsHearing DisordersHumansInfantIntellectual DisabilityMaleOptic NervePedigreePsychotic DisordersRetinoblastomaSyndromeJournal Article

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M Warburg. 1971. Norrie's disease.. https://pubmed.ncbi.nlm.nih.gov/5006136/

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