Global Variome shared LOVD

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Phenotype #0000224137 Individual ID 00296736 Associated disease - Phenotype details early childhoody nyctalopia (HP:0000662), gradual field loss (HP:0007987); logMAR R 1.3 (20/400), L 0.9 (20/160); refraction BE pseudophakic when assessed; fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), minimal pigment change (HP:0031605); mid 20s-ERGs undetectable (HP:0000550) (scotopic and photopic); fields to confrontation 10-15 degrees, Ishihara 0/17 each eye (HP:0030586) Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP77 Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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