Global Variome shared LOVD

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

Phenotype #0000116904 Individual ID 00144126 Associated disease - Phenotype details Age 62; Age diagnosis 21; symptom: Night blindness since childhood; visual acuity: R HM L 0,01; lens status: Aphakic eyes after cataract surgery; Fundoscopy results: Optic disc pallor, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules. 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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