Phenotype #0000299749

Individual ID 00407412
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.1/0.2, refractive error (diopter): hyperopia (+ 5.5 / +6.0); fundus: not available, electroretinogram: minimal responses in 33 hz flicker, perimetry: concentric narrowing to 8deg, kidney findings: nephronophthisis, dialysis since age 50
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 56y (56 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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