Phenotype #0000302212

Individual ID 00410103
Associated disease -
Phenotype details fundus: loss of pigment epithelium with narrow arterioles, pale optic disk, irregular bone-spicule pigmentation in peripheral retina; fundus fluorescein angiogram: diffuse extensive transmitted and blocked fluorescence at the early stage binocularly, and staining of optic nerve at late stage
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-18 21:55:20 +02:00 (CEST)
Date last edited N/A

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