Global Variome shared LOVD

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Phenotype #0000305398 Individual ID 00413424 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.15 / 0.1; stage: advanced; fundus: severe macular atrophy; fundus autofluorescence: loss of autofluorescence at retinal atrophy area with hyper-autofluorescence around the area; optical coherence tomography, ellipsoid zone line: disrupted, thinning of outer retinal layers: present; visual field testing (Goldmann perimetry): absolute central scotoma; full field electroretinography: rod: decreased b-wave, combined: decreased a and b-waves, cone and 30-Hz flickers: non-recordable Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 19y Phenotype/Onset photophobia, reduced visual acuity Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-18 13:24:40 +02:00 (CEST) Date last edited N/A

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