Phenotype #0000309058

Individual ID 00417588
Associated disease GACR;OATD
Phenotype details age when first spectacles were ordered: y; plasma ornithine concentration (um): 1696; best corrected visual acuity right/left eye: 0.8 / 0.8; refraction right / left eye: 0 / 0; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: pathologic / pathologic; 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 1m
Age/Onset -
Phenotype/Onset myopia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-20 14:21:50 +02:00 (CEST)
Date last edited N/A

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