Global Variome shared LOVD

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

Phenotype #0000298714 Individual ID 00406216 Associated disease - Phenotype details chief complaint: no symptoms, best corrected visual acuity right/left eye: -0.08 / -0.08; fundus: macular atrophy (slight), foveal sparing, myopic conus, fundus autofluorescence: area of low density at the central retina, ring of high density, foveal sparing, spectral domain optical coherence tomography: slight outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea, bull's eye pattern (parafoveal atrophy) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite macular dystrophy Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset 62y 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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