Global Variome shared LOVD

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Phenotype #0000028826 Individual ID 00038283 Associated disease - Phenotype details Visual loss began during the third decade. Funduscopic examination and fluorescein angiography revealed typical advanced RP changes with bone spicule-like pigment deposits in the posterior pole and the midperiphery along with retinal atrophy, narrowing of the vessels, and waxy optic discs Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset ? Protein - Owner name Frans Cremers Database submission license Creative Commons Attribution 4.0 International Created by Frans Cremers Date created 2015-05-01 22:00:00 +02:00 (CEST) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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