|Year : 2023 | Volume
| Issue : 2 | Page : 580-581
Gyrate atrophy: A photo essay
Raghulnadhan Ramanadhane1, Debmalya Das1, Surabhi Chattree1, Rupak Roy1, Bikramjit P Pal2
1 Department of Vitreo Retina, Sankara Nethralaya, Kolkata, West Bengal, India
2 Pals Retina Clinic, Ranchi, Jharkhand, India
|Date of Submission||03-Dec-2022|
|Date of Acceptance||13-Feb-2023|
|Date of Web Publication||28-Apr-2023|
Sankara Nethralaya, Plot No-DJ/16, Action Area-1D, New Town, Rajarhat, Kolkata - 700 099, West Bengal
Source of Support: None, Conflict of Interest: None
Keywords: Electroretinogram, gyrate atrophy, ocular coherence tomography
|How to cite this article:|
Ramanadhane R, Das D, Chattree S, Roy R, Pal BP. Gyrate atrophy: A photo essay. Indian J Ophthalmol Case Rep 2023;3:580-1
A 17-year-old male complained of gradual painless diminution of vision since childhood. He was born out of a third-degree consanguineous marriage with a history of similar complaints in his brother. His best-corrected visual acuity (BCVA) was 6/18, the intraocular pressure being 16 mmHg in both eyes (OU). Color vision was normal and anterior segment (A/S) unremarkable. Posterior segment (P/S) examination showed both eyes normal optic discs with peripapillary atrophy. The foveal reflex was dull and the retina was attached. There were multiple peripheral chorioretinal atrophic patches progressing toward the posterior pole [Figure 1]. Optical coherence tomography (OCT) revealed abnormal foveal contour with cystoid macular edema [Figure 2]. Electroretinogram (ERG) revealed both reduced photopic and scotopic responses with reduced 30 Hz flicker response [Figure 3]. His systemic evaluation revealed elevated serum ornithine levels. Based on the clinical evidence and ERG, a diagnosis of autosomal recessive gyrate atrophy was made., He was advised to consult physician and take an arginine-restricted diet.
|Figure 1: Montage color fundus images depicting multiple peripheral chorioretinal atrophic patches progressing toward the posterior pole,|
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|Figure 2: OCT images with arrows depicting foveal intraretinal cystoid spaces|
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|Figure 3: Full field ERG showing both reduced photopic and scotopic responses with reduced 30 Hz flicker response|
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| Discussion|| |
Gyrate atrophy is an autosomal recessive dystrophy of the choroid and retina that is characterised by the elevateion of plasma ornithine levels due to deficiency in the mitochondrial enzyme Ornithine aminotransferase (OAT). It usually starts presenting by the first or second decade of life and is characterised by the presence of myopia, cataract and multiple peripheral chorioretinal degeneration that gradually progress towards the posterior pole. ERG usually reveals a subnormal 'a' and 'b' wave response initially followed by an undetectable response in advance stage of the disease. The pathogenesis of macular edema in such case might be attributed to the breakdown of blood retinal barrier (BRB) or reducing retinal pigment epithelium (RPE) pump mechanism. Hence, topical carbonic anhydrase inhibitors and non steroidal anti-inflammatory agents can be considered as an adjuvant in treating any associated edema in such disorders.
Statement of ethics
Written assent for publication (including clinical information and the images) from patient and consent from the parent has been obtained. All procedures carried out were in accordance with the tenets of the Declaration of Helsinki. Institute Ethics Committee approval is not required for a case report according to Indian council of medical research guidelines.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Takki K, Milton R. The natural history of Gyrate atrophy of the choroid and retina. Ophthalmology 1981;88:292-301.
Raitta C, Carlson S, Vannas-Sulonen K. Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epithelium. Br J Ophthalmol 1990;74:363-7.
Kaiser-Kupfer MI, Caruso RC, Valle D, Reed GF. Use of an Arginine-restricted diet to slow progression of visual lossin patients with Gyrate Atrophy. Arch Ophthalmol 2004;122:982-4.
[Figure 1], [Figure 2], [Figure 3]