Phenotype #0000116933

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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)