Phenotype #0000298826

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00406339
Associated disease	-
Phenotype details	loss of colour and central vision, photoaversion, best corrected visual acuity right, left eye: 3/60, 1/60, refractive error: myopia, colour vision - Ishihara: 0/17, fundus: perifoveal retinal thinning
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	cone dystrophy
Age/Examination	44y (44 years)
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	reduced central vision
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-28 19:16:38 +02:00 (CEST)
Date last edited	N/A

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