Global Variome shared LOVD

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

Phenotype #0000116681 Individual ID 00143903 Associated disease - Phenotype details Age 53; Age diagnosis 33; symptom: Night blindness after age 20; visual acuity: R 0,2 L 0,03; lens status: IOL (ASC); Fundoscopy results: Normal optic disc, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules. OCT: severe foveal atrophy in both eyes. 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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