دورية أكاديمية
Investigating the associations of macular edema in retinitis pigmentosa.
| العنوان: | Investigating the associations of macular edema in retinitis pigmentosa. |
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| المؤلفون: | Arias JD; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA., Kalaw FGP; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA.; Ophthalmology - Retina Division, Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, University of California San Diego, 9415 Campus Point Drive, San Diego, CA, 92093, USA., Alex V; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA.; Ophthalmology - Retina Division, Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, University of California San Diego, 9415 Campus Point Drive, San Diego, CA, 92093, USA., Yassin SH; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA.; Ophthalmology - Retina Division, Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, University of California San Diego, 9415 Campus Point Drive, San Diego, CA, 92093, USA., Ferreyra H; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA.; Ophthalmology - Retina Division, Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, University of California San Diego, 9415 Campus Point Drive, San Diego, CA, 92093, USA., Walker E; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA.; Ophthalmology - Retina Division, Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, University of California San Diego, 9415 Campus Point Drive, San Diego, CA, 92093, USA., Wagner NE; Ophthalmology - Retina Division, Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, University of California San Diego, 9415 Campus Point Drive, San Diego, CA, 92093, USA., Borooah S; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA. sborooah@health.ucsd.edu.; Ophthalmology - Retina Division, Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, University of California San Diego, 9415 Campus Point Drive, San Diego, CA, 92093, USA. sborooah@health.ucsd.edu. |
| المصدر: | Scientific reports [Sci Rep] 2023 Aug 30; Vol. 13 (1), pp. 14187. Date of Electronic Publication: 2023 Aug 30. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : Nature Publishing Group, copyright 2011- |
| مواضيع طبية MeSH: | Macular Edema*/genetics , Retinitis Pigmentosa*/complications , Retinitis Pigmentosa*/genetics , Retinal Diseases* , Macula Lutea*, Humans ; Retina/diagnostic imaging ; Eye Proteins |
| مستخلص: | 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. (© 2023. Springer Nature Limited.) |
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| معلومات مُعتمدة: | P30 EY022589 United States EY NEI NIH HHS |
| المشرفين على المادة: | 0 (EYS protein, human) 0 (Eye Proteins) |
| تواريخ الأحداث: | Date Created: 20230830 Date Completed: 20230901 Latest Revision: 20231121 |
| رمز التحديث: | 20231121 |
| مُعرف محوري في PubMed: | PMC10469217 |
| DOI: | 10.1038/s41598-023-41464-z |
| PMID: | 37648803 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 2045-2322 |
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| DOI: | 10.1038/s41598-023-41464-z |