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Investigating the associations of macular edema in retinitis pigmentosa

Scientific reports, 2023-08, Vol.13 (1), p.14187-14187, Article 14187 [Peer Reviewed Journal]

The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Springer Nature Limited 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-41464-z ;PMID: 37648803

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  • Title:
    Investigating the associations of macular edema in retinitis pigmentosa
  • Author: Arias, Juan D ; Kalaw, Fritz Gerald P ; Alex, Varsha ; Yassin, Shaden H ; Ferreyra, Henry ; Walker, Evan ; Wagner, Naomi E ; Borooah, Shyamanga
  • Subjects: Autosomal dominant inheritance ; Complications ; Edema ; Genetic factors ; Genetic screening ; Retina ; Retinitis pigmentosa
  • Is Part Of: Scientific reports, 2023-08, Vol.13 (1), p.14187-14187, Article 14187
  • Description: Macular edema (ME), the accumulation of intraretinal fluid in the macula, is a common sight affecting sequelae of retinitis pigmentosa (RP). However, it is unclear why some patients develop ME, and others do not. This study aims to identify associations between clinical-genetic factors in RP with ME. Patients with clinically confirmed RP cases were identified from the inherited retinal disease database at a large tertiary referral academic center. Demographic and genetic testing findings were noted. Additionally, optical coherence tomography volume scans were graded using a validated grading system. One hundred and six patients (73.1%) were found to have ME in at least one eye (OD = 88, mean = 37.9%, OS = 98, mean = 31.7%). Structurally, the presence of epiretinal membrane (ERM) (p < 0.007) and vitreo-macular traction (VMT) (p < 0.003) were significantly associated with ME. Additionally, X-linked (p < 0.032) and autosomal dominant inheritance (p < 0.039) demonstrated a significant association with ME, with RP1 (p < 0.045) and EYS (p < 0.017) pathogenic variants also significantly associated with ME. This study, in a large cohort of RP patients, confirms previous retinal structural associations for ME in RP and identifies potential new genetic associations.
  • Publisher: London: Nature Publishing Group
  • Language: English
  • Identifier: ISSN: 2045-2322
    EISSN: 2045-2322
    DOI: 10.1038/s41598-023-41464-z
    PMID: 37648803
  • Source: Open Access: PubMed Central
    AUTh Library subscriptions: ProQuest Central
    DOAJ Directory of Open Access Journals
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