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 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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