Optical Coherence Tomography Analysis of Cystoid Macular Edema in Retinal Dystrophy Treated with Oral Acetazolamide: Two Cases

Chatzistergiou, Vasileia; Papasavvas, Ioannis; Escher, Pascal; Durig, Jacques; Vaudaux, Jean D.; Pournaras, Jean-Antoine; Ambresin, Aude

doi:10.1055/a-1068-2762

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…CME in RP causes vision loss in 10%–50% of patients [ 51 - 56 ]. Anti-CA antibodies and CME [ 57 ] were correlated in patients with RP with CME (hereafter referred to as “RP-CME”), confirming the efficacy of CAIs in RP-CME. The efficacy of acetazolamide in vision improvement has been inconsistent in some retinal dystrophies [ 58 ].…”

Section: Discussionmentioning

confidence: 92%

Carbonic anhydrase inhibitors in the management of macular edema: A review of the literature

Shahsuvaryan¹

2022

Med Hypothesis Discov Innov Ophthalmol

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Background: Macular edema (ME) is a vision-threatening condition that commonly develops as a consequence of ocular diseases, including age-related macular degeneration, retinal vaso-occlusion of the central retinal vein and its branches, diabetic retinopathy, central serous chorioretinopathy, uveitis, retinitis pigmentosa, pseudophakia, ocular trauma, and drug toxicity. The treatment of ME remains challenging, although steroids and vascular endothelial growth factor inhibitors are available. Cost-effective therapy using a noninvasive administration route is required. This study aimed at reviewing the role of carbonic anhydrase inhibitors (CAIs) in the management of ME. Methods: A literature search was conducted using PubMed/MEDLINE and Google Scholar for studies from January 2000 to March 2022. The following keywords were used in various combinations: “macular edema”, “carbonic anhydrase”, “carbonic anhydrase inhibitors”, “acetazolamide”, “dorzolamide”, and “brinzolamide”. Results: Articles with high or medium clinical relevance were selected for this review. We found that multiple studies have demonstrated the relevance and efficacy rates of CAIs in the management of ME. Most published studies focused on acetazolamide and dorzolamide, with nearly all studies reporting therapeutic responses. Conclusions: ME is the leading cause of vision loss and requires noninvasive and cost-effective pharmacotherapy. With progress in the understanding of ME, particularly the role of carbonic anhydrase as a key driver, CAIs are the focus of research. Further optimization of the choice of CAIs and retinal bioavailability, potentially with nanoparticle formulations, is required to enable the effective management of ME. Further research is warranted to address the therapeutic effects of CAIs in different formulations.

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Section: Discussionmentioning

confidence: 92%

Carbonic anhydrase inhibitors in the management of macular edema: A review of the literature

Shahsuvaryan¹

2022

Med Hypothesis Discov Innov Ophthalmol

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“…While there is currently no approved treatment for genetic defects underlying NR2E3 disorders, the associated disease complications, such as hypermetropia and retinoschisis, should be monitored and management offered where appropriate to reduce further sight loss. For instance, macular retinoschisis and cystoid macular edema can be effectively treated using the oral carbonic anhydrase inhibitor, acetazolamide [115,116].…”

Section: Treatmentsmentioning

confidence: 99%

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease

Toms

Ward²,

Moosajee

2023

Genes

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NR2E3 is a nuclear hormone receptor gene required for the correct development of the retinal rod photoreceptors. Expression of NR2E3 protein in rod cell precursors suppresses cone-specific gene expression and, in concert with other transcription factors including NRL, activates the expression of rod-specific genes. Pathogenic variants involving NR2E3 cause a spectrum of retinopathies, including enhanced S-cone syndrome, Goldmann–Favre syndrome, retinitis pigmentosa, and clumped pigmentary retinal degeneration, with limited evidence of genotype–phenotype correlations. A common feature of NR2E3-related disease is an abnormally high number of cone photoreceptors that are sensitive to short wavelength light, the S-cones. This characteristic has been supported by mouse studies, which have also revealed that loss of Nr2e3 function causes photoreceptors to develop as cells that are intermediate between rods and cones. While there is currently no available cure for NR2E3-related retinopathies, there are a number of emerging therapeutic strategies under investigation, including the use of viral gene therapy and gene editing, that have shown promise for the future treatment of patients with NR2E3 variants and other inherited retinal diseases. This review provides a detailed overview of the current understanding of the role of NR2E3 in normal development and disease, and the associated clinical phenotypes, animal models, and therapeutic studies.

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Optical Coherence Tomography Analysis of Cystoid Macular Edema in Retinal Dystrophy Treated with Oral Acetazolamide: Two Cases

Cited by 2 publications

References 11 publications

Carbonic anhydrase inhibitors in the management of macular edema: A review of the literature

Carbonic anhydrase inhibitors in the management of macular edema: A review of the literature

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease

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