Phenotype #0000301519

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00409402
Associated disease	BCD
Phenotype details	best corrected visual acuity right, left eye: 0.4 / 0.5; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	40y (40 years)
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-09 10:58:59 +02:00 (CEST)
Date last edited	N/A

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