Phenotype #0000309059

Individual ID	00417589
Associated disease	GACR;OATD
Phenotype details	age when first spectacles were ordered: 4y; plasma ornithine concentration (um): 871; best corrected visual acuity right/left eye: / ; refraction right / left eye: -2.5 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination	5y (5 years)
Age/Diagnosis	4y
Age/Onset	-
Phenotype/Onset	myopia, night blindness
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