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Case Reports
. 2025 Jun 24;18(2):208-211.
doi: 10.4103/ojo.ojo_247_24. eCollection 2025 May-Aug.

Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child

Nguyen Minh-Phu  1 , Nguyen Hanh Giang  2 , Nguyen Ngan-Ha  2 , Nguyen Huu Hong Thu  3 , Nguyen Hai Ha  3
Affiliations
Case Reports

Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child

Nguyen Minh-Phu et al. Oman J Ophthalmol. .

Abstract

Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive chorioretinal atrophy, nyctalopia, and possibly blindness. This report presents the case of a 7-year-old Vietnamese boy with no history of trauma and a complaint of sudden visual loss over the past 6 weeks. Fundus examination showed vitreous hemorrhage in the right eye and chorioretinal atrophy with hyperpigmented margins in the periphery retina of the left eye. Based on the high serum ornithine level and compound heterozygous mutations detected in the ornithine aminotransferase (OAT) gene of the patient, he was diagnosed with GA. The patient underwent a right eye vitrectomy and was supplemented with Vitamin B6 and an arginine-restricted diet. Four months after surgery, the patient's visual acuity was significantly improved, and there was no progression of chorioretinal atrophy or recurrent vitreous hemorrhage. GA is an extremely rare disease and difficult to diagnose, especially when accompanied by vitreous hemorrhage. Combining genetic tests with clinical examinations helped diagnose accurately, and prompt treatment could restore the patient's visual function.

Keywords: Gyrate atrophy; OAT gene; pathogenic variants.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Vitreous hemorrhage in the right eye. (b) Right eye mobile echoes in the vitreous cavity. (c) Left eye chorioretinal atrophy with hyperpigmented margins. (d) No foveal atrophy in the left eye. (e) Left eye cystoid macular edema on optical coherence tomography
Figure 2
Figure 2
(a) Unaffected carrier parents (I.1, I.2), patient with compound heterozygous (het) mutations (II.2, black arrow), and unaffected siblings (II.1, II.3). (b) Sanger sequences of exon 6 in patients (II.2) and parents (I.1, I.2) with segregating variants (red arrows). OAT: Ornithine aminotransferase
Figure 3
Figure 3
(a and b) Multiple chorioretinal atrophy areas in both eyes. The arrow shows neovascularization (cause of hemorrhage). (c) Cystoid macular edema in the right eye. (d-f) Cystoid macular edema with mild fluorescein leakage and late-phase macula leakage
See this image and copyright information in PMC

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