Global Variome shared LOVD

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

Phenotype #0000256107 Individual ID 00360702 Associated disease - Phenotype details They don't mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they've identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery. Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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