Global Variome shared LOVD

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

Phenotype #0000298710 Individual ID 00406212 Associated disease - Phenotype details chief complaint: night blindness, best corrected visual acuity right/left eye: 1,15 / 1,22, refractive errors (diopters) right/left eye: 0 / -0.5; fundus: macular atrophy, atrophy along the arcade, vessel attenuation, pigmentation, fundus autofluorescence: area of low density at the central retina, ring of high density, low density areas along the arcade, spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula, epiretinal membrane (right eye) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 88y (88 years) Age/Diagnosis - Age/Onset 60y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-25 16:05:43 +01:00 (CET) Date last edited N/A

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