20.500.12556/DiRROS-24585 Peripapillary retinal nerve fibre layer thinning in patients with X- linked retinoschisis Elektronski vir Aims: To assess peripapillary retinal nerve fibre layer (pRNFL) thickness in patients with X-linked retinoschisis (XLRS), as pRNFL thinning may limit functional improvements in gene therapy trials. Methods: This retrospective multicentre study included 49 eyes from 25 patients diagnosed with XLRS. Data collected with multimodal imaging at baseline and last follow-up (when available) included age, best-recorded visual acuity (BRVA), central retinal thickness, macular volume (MV), presence and location of peripheral retinoschisis and pRNFL thickness in the global (G), superotemporal (TS), superonasal (NS), inferotemporal (TI), inferonasal (NI), nasal (N) and temporal (T) sectors. Retinal sensitivity, assessed by microperimetry, was also recorded for seven patients at baseline. Results: pRNFL was thinner (below the fifth percentile) in at least one sector in 72% of right eyes and 79% of left eyes, with thinning across three or more sectors in 20% of right and 17% of left eyes. In 44% of cases, thinning occurred in the temporal sectors of both eyes, with no nasal sectoral thinning. Number of peripheral retinoschisis quadrants matched thinned pRNFL sectors. A strong positive correlation was found between MV and temporal pRNFL thickness (r=0.71, p<0.01), while weak negative correlation trends were noted with age (p=0.05) and BRVA (logMAR; p=0.12) related to temporal thickness of pRNFL sectors. Conclusion: pRNFL thinning, predominantly sectoral and linked to macular or peripheral retinoschisis, occurs in about three-quarters of patients with XLRS, while diffuse thinning occurs in one-fifth. Temporal pRNFL thinning might occur only after the collapse of intraretinal cystoid cavities in the macula. retinoschisis X-linked retinoschisis true false true Angleški jezik Ni določen Neznano 2025-12-08 13:21:35 2025-12-08 13:21:35 2025-12-09 03:44:00 0000-00-00 00:00:00 2024 0 0 7 str. iss. 1 Vol. 9 2024 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 0000-00-00 617.7 2397-3269 10.1136/bmjophth-2024-001832 218557187 RAZ_Kiraly_Peter_2024.pdf RAZ_Kiraly_Peter_2024.pdf 1 B478870342459C593CFDB29E3F56C096 ab67364a434a54e2cedf6d04136c5fd077b983e35ebac30b209e21faea5223f6 a4cdb677-d430-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36680 https://bmjophth.bmj.com/content/9/1/e001832 1 7285a628-d430-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36679 Univerzitetni klinični center Ljubljana 0 0 0