Global Variome shared LOVD

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

Phenotype #0000116910 Individual ID 00144132 Associated disease - Phenotype details visual acuity: R 0.04 L 0.2; refraction R(D) -1.5 L(D) -1.5; lens status: bilateral pseudophakia; Goldmann Perimetry: OD 8°, OS 9°; fundoscopy: waxy optic disc, attenuated retinal vasulature, RPE changes in periphery and posterior pole, extensive bone spicules throughout periphery; OCT: foveal thinning Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 20y 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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