Global Variome shared LOVD

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

Phenotype #0000116690 Individual ID 00143912 Associated disease - Phenotype details visual acuity: R 1 L 1; refraction R(D) -6 L(D) -5.25; lens status: clear; Goldmann Perimetry: OD, OS: concentric constriction with remaining centrl island, remaining peripheral island. P0; fundoscopy: normal optic disc, slightly attenuated vessels, RPE changes in periphery, bone spicules sprinkled throughout periphery Diagnosis/Initial retinitis pigmentosa Inheritance Isolated (sporadic) 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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