Global Variome shared LOVD

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Phenotype #0000116933 Individual ID 00144155 Associated disease - Phenotype details At age 31: best-corrected visual acuity (BCVA) was 0.9 [with −6.00 diopter (dpt), cylinder (cyl) −1.25 dpt axis (Ax) 130°] in his right eye and 0.6 (with −4.50 dpt, cyl −0.75 dpt Ax 180°) in his left eye; Funduscopy showed retinal degenerations within the vascular arcade in both eyes Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 29y 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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