We report the outcome of 3 years of arginine-restricted diet and vitamin B6 supplementation in a boy who presented with gyrate atrophy of the choroid and retina and bilateral cystoid macular edema. The diagnosis of gyrate atrophy was made on the basis of clinical findings and increased plasma ornithine levels. Molecular genetic testing revealed a disease-causing homozygous mutation in the ornithine aminotransferase (OAT) gene. After 3 months of dietary modification and pyridoxine supplementation, visual acuity improved, and optical coherence tomography showed resolution of cystoid macular edema in both eyes. This anatomical and functional improvement was maintained during 3 years of follow-up.
Resolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy.
G. Casalino,L. Pierro,M. Manitto,M. Michaelides,F. Bandello
Published 2018 in Journal of AAPOS
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- Publication year
2018
- Venue
Journal of AAPOS
- Publication date
2018-04-12
- Fields of study
Medicine
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- External record
- Source metadata
Semantic Scholar, PubMed
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