Phenotype #0000224135

Individual ID 00296734
Associated disease -
Phenotype details 20y-nyctalopia (HP:0000662), 30y reduced fields (HP:0001123), 40y reduced central vision (HP:0007663); logMAR R 0.3 (20/40), L 0.18 (20/30); refraction r +2.25/-1.25 x 75,L +2.5/-2 x 20; fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), atrophic patches (HP:0001099), cystoid macular edema (HP:0011505); fields to confrontation 10 degrees, Ishihara 17/17 each eye (HP:0030586), bilateral early cataract (HP:0000518), 48y-anosmia (HP:0000458)
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite RP77
Age/Examination 54y (54 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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