Phenotype #0000298707

Individual ID 00406209
Associated disease -
Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 0,4 / 1,7, refractive errors (diopters) right/left eye: -3.5 / not available; fundus: macular atrophy, atrophy along the arcade, peripheral atrophy, vessel attenuation, foveal sparing right eye, fundus autofluorescence: spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula, preservation of ellipsoid zone line at the fovea
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite cone-rod dystrophy
Age/Examination 76y (76 years)
Age/Diagnosis -
Age/Onset -
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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