Article
First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.
European journal of ophthalmology - 1 Sept 2021
Jalali Hossein, Najafi Mojtaba, Khoshaeen Atefeh, Mahdavi Mohammad Reza, Mahdavi Mahan
Abstract excerpt
BACKGROUND: Gyrate atrophy is a rare autosomal recessive inherited genetic disease. Progressive deterioration of peripheral night vision and blindness are the foremost clinical manifestations of the disease caused by mutations of ornithine aminotransferase gene. CASE: The presented case was an 18-year-old male referred for a progressive reduction of visual acuity, which started when the subject was 7 years old,...
Topics
- Adolescent
- Atrophy
- Child
- Choroid
- Gyrate Atrophy
- Humans
- Male
- Mutation
- Ornithine-Oxo-Acid Transaminase
- Retina