Phenotype #0000224134

Individual ID 00296733
Associated disease -
Phenotype details 5y-nyctalopia (HP:0000662), 18y-field constriction (HP:0001133); fundus peripheral retinal atrophy (HP:0200070), vessel attenuation (HP:?), bony spicules (HP:0007737); 20y-ERG photopic responses severely reduced; Goldmann visual fields reduced to 30 degrees with preserved temporal islands, early posterior subcapsular cataract (HP:0007787)
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite RP77
Age/Examination 35y (35 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-04-11 19:49:19 +02:00 (CEST)
Date last edited N/A

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