Phenotype #0000291963

Individual ID 00398875
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 20/60 each eye; trace posterior subcapsular cataracts; extensive intraretinal pigment migrations extending from the mid-periphery equatorial region to the arcades in both eyes with extensive arterial attenuation; central sparing of the retinal pigment epithelium in both maculae; no edema; fundus autofluorescence: hyperfluorescent rings
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 38y (38 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 2022-01-14 11:01:01 +01:00 (CET)
Date last edited N/A

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