Global Variome shared LOVD

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Phenotype #0000298703 Individual ID 00406205 Associated disease - Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 1,1 / 0,1, refractive errors (diopters) right/left eye: -5.5 / -5.0; fundus: macular atrophy, atrophy along the arcade, fundus autofluorescence: area of low density at the central retina, ring of high density, low density areas along the arcade, foveal sparing (left eye), spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula, bull's eye pattern (parafoveal atrophy) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset 35y 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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