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      Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings

      case-report

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          Abstract

          Gyrate atrophy (GA) is a hereditary condition characterized by ornithine aminotransferase deficiency-related large areas of retinal pigment epithelium and choriocapillaris lobular-shaped atrophy in the peripheral retina. In this report, we present a case of atypical presentation of GA. The aim of this report is to present two siblings, one of which was associated with a lamellar macular hole and with a history of previous diagnosis of retinitis pigmentosa. The delayed diagnosis of GA was made only after her brother, who was 5 years younger than her was diagnosed with GA. In addition, in this report, we evaluated GA in terms of multimodal imaging findings, differential diagnosis, and treatment of macular complications.

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          Most cited references16

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          Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

          K Takki, O Simell (1973)
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            The natural history of gyrate atrophy of the choroid and retina.

            K Takki, Jacob R. Milton (1981)
            Twenty-nine Finnish patients (8-80 years old during follow-up) with hyperornithinemia and gyrate atrophy (HOGA) were followed 2 to 31 years to determine when and how rapidly visual acuities and visual functions were affected by the disease. Considerable variability was observed both in the age at which visual acuities began to decrease and the age at which visual acuities reached 20/200. Acuities in phakic eyes tended to decrease from 20/30 to 20/200 in ten years or less, while aphakic eyes exhibited generally slower loss of vision. Without benefit of cataract surgery, the percentage of eyes with acuity 20/200 or worse would have been 37% at age 30 and 64% at age 40, but through surgery actually performed was 20% at age 40. Constriction of visual fields with age was marked and correlated well with diminution in dark adaptation.
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              Inhibition of membrane-bound carbonic anhydrase decreases subretinal pH and volume.

              T Wolfensberger, A. V. Dmitriev, V Govardovskii (1999)
              The lipophilic carbonic anhydrase (CA) inhibitor acetazolamide has been shown to enhance subretinal fluid resorption, reduce subretinal pH, and can improve cystoid macular edema, but its clinical use is limited by systemic side effects. While these are most likely a result of inhibiting intracellular CA isoenzymes, retinal pigment epithelial (RPE) transport is thought to be modulated via membrane-bound CA. This study investigates whether benzolamide, a hydrophilic CA inhibitor that does not readily penetrate cell membranes, is sufficient to modulate subretinal volume and pH.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Beyoglu Eye J
                Journal ID (iso-abbrev): Beyoglu Eye J
                Title: Beyoglu Eye Journal
                Publisher: Kare Publishing (Turkey )
                ISSN (Print): 2459-1777
                ISSN (Electronic): 2587-0394
                Publication date Collection: 2023
                Publication date (Electronic): 01 December 2023
                Volume: 8
                Issue: 4
                Pages: 301-307
                Affiliations
                [1 ]Department of Ophthalmology, University of Health Sciences, Diskapi Yildirim Beyazit Training, and Research Hospital, Ankara, Türkiye
                [2 ]Department of Ophthalmology, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Türkiye
                Author notes
                Address for correspondence: Tugce Horozoglu Ceran, MD. Department of Ophthalmology, University of Health Sciences, Diskapi Yildirim Beyazit Training, and Research Hospital, Ankara, Türkiye Phone: +90 507 596 86 90 E-mail: tugcehorozoglu00@ 123456gmail.com
                Article
                Publisher ID: BEJ-8-301
                DOI: 10.14744/bej.2023.72473
                PMC ID: 10711583
                PubMed ID: 38089080
                SO-VID: 60826599-214e-4064-8bfe-a5f06bf5de39
                Copyright © Copyright: © 2023 by Beyoglu Eye Training and Research Hospital
                License:

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License

                History
                Date received : 06 April 2023
                Date revision received : 10 April 2023
                Date accepted : 08 July 2023
                Categories
                Subject: Case Report

                Keywords: atypical presentation,gyrate atrophy,lamellar macular hole,multimodal imaging,retinitis pigmentosa
                Data availability:
                Keywords: atypical presentation, gyrate atrophy, lamellar macular hole, multimodal imaging, retinitis pigmentosa

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