Case report on Vitamin B6-Responsive Gyrate atrophy with Cystoid Macular Edema in a Consanguineous Young Male: A Treatable Metabolic Retinopathy
- 1Department of Ophthalmology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, Maharashtra, India
Abstract
Gyrate atrophy is a rare autosomal recessive chorioretinal dystrophy caused by ornithine aminotransferase deficiency, resulting in toxic accumulation of plasma ornithine and progressive retinal degeneration. We describe a 20-year-old male, born to consanguineous parents, who presented with progressive diminution of vision, nyctalopia, and peripheral visual field loss. Fundus examination revealed sharply demarcated, scalloped areas of midperipheral chorioretinal atrophy with relative macular sparing. Optical coherence tomography demonstrated cystoid macular edema, whereas plasma ornithine levels were markedly elevated. The patient was treated with dietary protein restriction and pyridoxine supplementation, with biochemical improvement and stabilization of visual function. Early recognition, metabolic monitoring, and evaluation of pyridoxine responsiveness may delay visual deterioration and improve visual prognosis in gyrate atrophy.
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BibTeX
@article{jagadish2026case,
title = {{Case report on Vitamin B6-Responsive Gyrate atrophy with Cystoid Macular Edema in a Consanguineous Young Male: A Treatable Metabolic Retinopathy}},
author = {Rohan Jagadish and Nilesh Giri and Gautami Ramesh Laturkar and Soumya Grover and Jay Kumar Trapasiya},
journal = {Annals of African Medicine},
year = {2026},
month = aug,
doi = {10.4103/aam.aam_218_26},
url = {https://doi.org/10.4103/aam.aam_218_26},
note = {CC BY-NC-SA 4.0},
}
RIS
TY - JOUR
TI - Case report on Vitamin B6-Responsive Gyrate atrophy with Cystoid Macular Edema in a Consanguineous Young Male: A Treatable Metabolic Retinopathy
AU - Rohan Jagadish
AU - Nilesh Giri
AU - Gautami Ramesh Laturkar
AU - Soumya Grover
AU - Jay Kumar Trapasiya
PY - 2026
DA - 2026/08/14
JO - Annals of African Medicine
DO - 10.4103/aam.aam_218_26
UR - https://doi.org/10.4103/aam.aam_218_26
AB - Gyrate atrophy is a rare autosomal recessive chorioretinal dystrophy caused by ornithine aminotransferase deficiency, resulting in toxic accumulation of plasma ornithine and progressive retinal degeneration. We describe a 20-year-old male, born to consanguineous parents, who presented with progressive diminution of vision, nyctalopia, and peripheral visual field loss. Fundus examination revealed sharply demarcated, scalloped areas of midperipheral chorioretinal atrophy with relative macular sparing. Optical coherence tomography demonstrated cystoid macular edema, whereas plasma ornithine levels were markedly elevated. The patient was treated with dietary protein restriction and pyridoxine supplementation, with biochemical improvement and stabilization of visual function. Early recognition, metabolic monitoring, and evaluation of pyridoxine responsiveness may delay visual deterioration and improve visual prognosis in gyrate atrophy.
SN - 1596-3519
SN - 0975-5764
ER -