A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy

Abstract Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may be controlled by low protein diets....

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Bibliographic Details
Main Authors: Samira Molaei Ramshe, Safoura Zardadi, Elham Alehabib, Ramin Nourinia, Javad Jamshidi, Mohsen Soosanabadi, Hossein Darvish
Format: Article
Language:English
Published: Knowledge E 2024-03-01
Series:Journal of Ophthalmic & Vision Research
Subjects:
gyrate atrophy mutation ornithine aminotransferase vitamin b6
Online Access:https://doi.org/10.18502/jovr.v19i1.15446

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https://doi.org/10.18502/jovr.v19i1.15446

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