Phenotype #0000308180

Individual ID 00416460
Associated disease -
Phenotype details 54y: noted decreased visual acuity; fundus: diffuse retinal pigment epithelial atrophy; 58y: diagnosis of RP was suggested by the presence in the peripheral retina of some atrophic areas and a few bone spicule-like clumps of pigment; macular degeneration was thought to be 'old cystoid macular edema'; electroretinogram: non-recordable; best corrected visual acuity right, left eye: 20/40, 20/100
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
Age/Diagnosis 58y
Age/Onset 54y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-31 11:23:45 +02:00 (CEST)
Date last edited N/A

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