Phenotype #0000309062

Individual ID 00417592
Associated disease GACR;OATD
Phenotype details age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 678; best corrected visual acuity right/left eye: 0.4 / 0.15; refraction right / left eye: -2.75 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: severely pathologic / severely pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination 7y (7 years)
Age/Diagnosis 7y
Age/Onset -
Phenotype/Onset myopia, night blindness
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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