Global Variome shared LOVD

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

Phenotype #0000116913 Individual ID 00144135 Associated disease - Phenotype details visual acuity: R 1 L 0.8; refraction R(D) 0 L(D) -1; lens status: bilateral cateract; Goldmann Perimetry: OD 10°, OS 10°; fundoscopy: normal optic disc, attenuated retinal vasulature, RPE changes in periphery, extensive bone spicules throughout periphery Diagnosis/Initial retinitis pigmentosa Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 50y 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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