Phenotype #0000301325

Individual ID 00409207
Associated disease -
Phenotype details night blindness: 2-3y, visual field constriction: 25y, decreased visual acuity: 40y; ophthalmic examination at age 40: visual acuity right, left eye: 8/105/10, biomicroscopy: normal, visual field: loss of upper visual field, fundus: pale disc, arteriolar constriction, bone spicule pigmentation, macula: normal, electroretinogram: extinguished
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
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 2022-05-05 13:07:17 +02:00 (CEST)
Date last edited N/A

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