Phenotype #0000299748

Individual ID 00407411
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.05/0.05 (20/400), refractive error (diopter): hyperopia (+7.5); fundus: normal optic nerve, slightly narrowed and straightened retinal vessels, very mild macular retinal pigment epithelium atrophy, peripheral hypopigmented areas with mild retinal pigment epithelium clumping, electroretinogram: nondetectable, perimetry: concentric narrowing to 5deg, kidney findings: nephronophthisis, chronic sclerotic tubulo-interstitial nephropathy with extensive tubular atrophy; dialysis since age 23
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 28y (28 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-06 16:39:51 +02:00 (CEST)
Date last edited N/A

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