Phenotype #0000224138

Individual ID 00296737
Associated disease -
Phenotype details 14y-nyctalopia (HP:0000662), late teens fields loss (HP:0001123); logMAR R 0.3 (20/40), L 0.18 (20/30); myopia (HP:0000545); fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), hyperpigmentation (HP:0011512), cystoid macular edema (HP:0011505); 15y-PERG normal, rod ERG undetectable (HP:0000550), delayed and profoundly reduced cone specific responses, severe rod-cone dystrophy (HP:0000548); fields to confrontation reduced to 30 degrees, early posterior subcapsular cataract (HP:0007787)
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite RP77
Age/Examination 29y (29 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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