Phenotype #0000309077

Individual ID	00417607
Associated disease	GACR;OATD
Phenotype details	age when first spectacles were ordered: 8y; plasma ornithine concentration (um): 793; best corrected visual acuity right/left eye: 0.2 / cf (3 m); refraction right / left eye: 7 / 10; fundus findings right / left eye: papilla: severely pathologic / pathologic; macula: pathologic / pathologic; vessels: pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination	41y (41 years)
Age/Diagnosis	20y
Age/Onset	-
Phenotype/Onset	myopia, night blindness, light sensitivity
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-20 14:21:50 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD