Phenotype #0000299754

Individual ID 00407417
Associated disease -
Phenotype details best corrected visual acuity right/left eye: Light perception, refractive error (diopter): hyperopia (+3.0 / 5.5); fundus: optic nerve normal- appearing, narrowed retinal arterioles, relatively normal- appearing fovea and macula, hypopigmented areas surrounded by hyperpigmented areas in a globular pattern, electroretinogram: nondetectable, perimetry: not available, kidney findings: nephronophthisis osed at age 3
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 10y (10 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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