Global Variome shared LOVD

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

Phenotype #0000298711 Individual ID 00406213 Associated disease - Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,52 / 0,82, refractive errors (diopters) right/left eye: 0 / 0; fundus: atrophy along the arcade (slight), foveal sparing, myelited fibre, fundus autofluorescence: spectral domain optical coherence tomography: slight preservation of ellipsoid zone line at the fovea Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 80y (80 years) Age/Diagnosis - Age/Onset 75y 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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