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J AAPOS. 2018 Aug;22(4):321-323. doi: 10.1016/j.jaapos.2017.12.016. Epub 2018 Apr 12.

Resolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy.

Author information

1
San Raffaele Scientific Institute, Vita-Salute University, Milan, Italy; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom. Electronic address: peppecasalino@gmail.com.
2
San Raffaele Scientific Institute, Vita-Salute University, Milan, Italy.
3
Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.

Abstract

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.

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