Phenotype #0000309061

Individual ID 00417591
Associated disease GACR;OATD
Phenotype details age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 2601; best corrected visual acuity right/left eye: / ; refraction right / left eye: -3.5 / -3.5; 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: midperipheral atrophy / midperipheral 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 5y
Age/Onset -
Phenotype/Onset no symptoms
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.