Phenotype #0000291964

Individual ID 00398876
Associated disease -
Phenotype details best corrected visual acuity each eye: 20/50; extensive non-nummular intraretinal pigment migration from the equatorial region to the arcades in both eyes with extensive arteriolar attenuation; mild bilateral cystoid macular edema, which was confirmed by OCT. Scanning laser ophthalmoscopy fundus autofluorescence: showed rings of high-density signal in both maculae with pigment displacement and a petalloid pattern within the larger ring
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 27y (27 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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