Phenotype #0000298713

Individual ID 00406215
Associated disease -
Phenotype details chief complaint: central visual field loss, best corrected visual acuity right/left eye: 0,22 / 0,4; fundus: macular atrophy (slight), foveal sparing, fundus autofluorescence: area of low density at the central retina, ring of high density, 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 macular dystrophy
Age/Examination 35y (35 years)
Age/Diagnosis -
Age/Onset 31y
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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