Phenotype #0000309060

Individual ID 00417590
Associated disease GACR;OATD
Phenotype details age when first spectacles were ordered: 3y; plasma ornithine concentration (um): 183; best corrected visual acuity right/left eye: 0.4 / 0.6; refraction right / left eye: -4 / -5; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: pathologic / 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 6y (6 years)
Age/Diagnosis 4y
Age/Onset -
Phenotype/Onset 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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