Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000116895 Individual ID 00144117 Associated disease - Phenotype details Age 57; Age diagnosis 50; symptom: Night blindness after age 20; visual acuity: R 0,04 L 0,04; lens status: IOL (NS); Fundoscopy results: Mild optic disc pallor, severely attenuated vessels, mid-periphery RPE atrophy with bone spicules. OCT: foveal thinning. Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Rob W.J. Collin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-28 22:45:32 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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