Phenotype #0000307987

Individual ID 00416222
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.1 / 0.1; fundus features: bilateral attenuation of retinal arterioles, widespread retinal pigment epithelium degeneration, bone spicule-like pigmentation in the mid-periphery retina, perifoveal atrophy, pale optic disc
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 47y (47 years)
Age/Diagnosis -
Age/Onset 20y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-25 12:55:56 +02:00 (CEST)
Date last edited N/A

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