Phenotype #0000301504

Global Variome shared LOVD

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

Individual ID	00409387
Associated disease	BCD
Phenotype details	best corrected visual acuity right, left eye: 20/400, finger counting; fundus findings: crystalline deposits, retinal pigment epithelium atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	69y (69 years)
Age/Diagnosis	-
Age/Onset	65y
Phenotype/Onset	decrease of visual acuity, nyctalopia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-08 15:44:56 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.