Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy

Piozzi, Elena; Alessi, Salvatore; Santambrogio, Silvia; Cillino, Giovanni; Mazza, M.; Iggui, Aissa; Cillino, Salvatore

doi:10.5301/ejo.5001010

Cited by 13 publications

(5 citation statements)

References 17 publications

(21 reference statements)

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“…54,70,71 Other reported dietary modifications that could also be of benefit include supplementation with proline and lysine. 7,54 Treatment modalities for cystoid macular oedema or intraretinal cystic spaces associated with GA includes the restriction of arginine in diet, 72 supplementation with vitamin B6, 72 administration of topical or oral carbonic anhydrase inhibitors, 73,74 topical non-steroidal antiinflammatory drops, 73,74 and intravitreal or subtenon steroid injections which, however, may increase the risk of cataract formation and elevation of the intraocular pressure. 28,30,75,76 Other treatment options also include injection of intravitreal anti-vascular endothelial growth factor agents, 6,57 which was shown to improve macular sensitivity and vascularity.…”

Section: Treatmentmentioning

confidence: 99%

Gyrate Atrophy of the Choroid and Retina: A Review

Elnahry

2021

European Journal of Ophthalmology

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Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive genetic condition characterized by elevation of the plasma level of the amino acid ornithine due to deficiency of the enzyme ornithine ketoacid aminotransferase. Accumulation of ornithine occurs in various body tissues but leads primarily to characteristic ophthalmic manifestations including myopia, cataract, progressive chorioretinal atrophy, and macular changes. Patients usually present with night blindness that starts in the first decade of life followed by visual field constriction and eventually diminution of the central visual acuity and blindness. The condition has been reported worldwide and its differential diagnosis is broad and includes choroideremia and retinitis pigmentosa. Treatment currently depends on life-long dietary modifications including restriction of the amino acid arginine in diet. This article describes in detail the pathogenesis, clinical features, multimodal imaging findings, and treatment options for GA of the choroid and retina and its complications.

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Section: Treatmentmentioning

confidence: 99%

Gyrate Atrophy of the Choroid and Retina: A Review

Elnahry

2021

European Journal of Ophthalmology

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“…A resolution of macular oedema has been reported following a low arginine diet, 25 sub-tenon or intravitreal triamcinolone injection, 26,27 or systemic carbonic anhydrase inhibitor and topical nonsteroidal anti-inflammatory drugs (NSAIDs). 28 Evaluating treatment response may be particularly difficult due to the heterogeneity of cystoid changes in GA. When no fluorescein angiography is performed (as was the case in our cohort), it can be difficult to differentiate macular oedema and other causes of cystoid retinal changes such as macular schisis.…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype

Pauleikhoff

Weisschuh

Lentzsch

et al. 2023

European Journal of Ophthalmology

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Introduction Gyrate atrophy (GA) is a rare retinal dystrophy due to biallelic pathogenic variants in the ornithine aminotransferase (OAT) gene, causing a 10-fold increase in plasma ornithine levels. It is characterized by circular patches of chorioretinal atrophy. However, a GA-like retinal phenotype (GALRP) without elevated ornithine levels has also been reported. The aim of this study is to compare the clinical characteristics of GA and GALRP and to identify possible discriminators. Methods A multicenter, retrospective chart review was performed at three German referral centres on patient records between 01/01/2009 and 31/12/2021. Records were screened for patients affected by GA or GALRP. Only patients with examination results for plasma ornithine levels and / or genetic testing of the OAT gene were included. Further clinical data was gathered where available. Results Ten patients (5 female) were included in the analysis. Three suffered from GA, while seven had a GALRP. Mean age (± SD) at onset of symptoms was 12.3 (± 3.5) years for GA compared with 46.7 (± 14.0) years for GALRP patients (p = 0.002). Mean degree of myopia was higher in GA (−8.0 dpt. ± 3.6) compared to GALRP patients (−3.8 dpt. ± 4.8, p = 0.04). Interestingly, all GA patients showed macular oedema, while only one GALRP patient did. Only one patient with GALRP had a positive family history, while two were immunosuppressed. Discussion Age of onset, refraction and presence of macular cystoid cavities appear to be discriminators between GA and GALRP. GALRP may encompass both genetic and non-genetic subtypes.

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“…High dose vitamin B6 is also recommended in order to prevent and treat macular complications [6,7]. Additional approaches also have been used to treat the macular edema in GA, including carbonic anhydrase inhibitors (CAI) [12,13], topical non-steroid anti-in ammatory drugs [12,13], and intravitreal or periocular corticosteroid [14] or vascular endothelial growth factor antagonists [15], either separately or in combination. However, results using these other agents have shown variable and transient e cacy depending on the stage of the disease, with a better response seen in early stages of the disease and little response in advanced stages.…”

Section: Discussionmentioning

confidence: 99%

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

Ceran

Gediz

Sönmez

2021

Preprint

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

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Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy

Cited by 13 publications

References 17 publications

Gyrate Atrophy of the Choroid and Retina: A Review

Gyrate Atrophy of the Choroid and Retina: A Review

Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype

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

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