Phenotype #0000300650

Individual ID 00408533
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 0.5/1.0; perimetry: central field - mild sensitivity loss in the right central field but not in the left field, with normal peripheral fields; ophthalmoscopy: retinal pigment epithelium atrophy with subretinal yellow material in both eyes but with normally appearing peripheral retinas.
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite Sorsby fundus dystrophy
Age/Examination 73y (73 years)
Age/Diagnosis -
Age/Onset 71y
Phenotype/Onset 71y: visual blurring in the right eye
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-22 14:00:33 +02:00 (CEST)
Date last edited N/A

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