Phenotype #0000298712

Individual ID 00406214
Associated disease -
Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,7 / 0,7, refractive errors (diopters) right/left eye: +2.0 / +2.0; fundus: atrophy along the arcade, vessel attenuation, foveal sparing, medial opacity, fundus autofluorescence: 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 cone-rod dystrophy
Age/Examination 83y (83 years)
Age/Diagnosis -
Age/Onset 77y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-25 16:05:43 +01:00 (CET)
Date last edited N/A

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