Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 International Created by Anna Tracewska Date created 2022-04-06 16:39:51 +02:00 (CEST) Date last edited N/A

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