Phenotype #0000299744

Individual ID 00407407
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.1/0.1(20/200), refractive error (diopter): hyperopia (+6.5 both eyes); fundus: vitreous cells, optic nerve normal, narrowed retinal vessels, no foveolar light reflex, relatively preserved retinal pigment epithelium in posterior pole, and hypopigmented spots surrounded by hyperpigmented areas in a globular pattern outside the arcades, electroretinogram: nondetectable, perimetry: concentric narrowing to 5deg
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 34y (34 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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