Morphological and functional parameters in X-linked retinoschisis patientsKiraly, Peter (Avtor) Seitz, Immanuel P. (Avtor) Abdalla Elsayed, Maram E. A. (Avtor) Downes, Susan (Avtor) Patel, Chetan B. (Avtor) Birtel, Johannes (Avtor) Mautone, Luca (Avtor) Dulz, Simon (Avtor) Vrabič, Nika (Avtor) Jarc-Vidmar, Martina (Avtor) Hawlina, Marko (Avtor) Introduction: X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish potential structural and functional endpoints for clinical trials, a comprehensive understanding of the intereye symmetry, relationship between structural and functional parameters, and disease progression is vital. Methods: In this retrospective multicentre study, 118 eyes of 59 XLRS patients with RS1 mutations were assessed. Information from center databases included: RS1 variant; age at presentation; best-corrected visual acuity (BCVA), central retinal thickness (CRT), macular volume (MV) at presentation and at the last follow up; full-field electroretinogram (ERG) findings; presence of peripheral retinoschisis and complications (vitreous hemorrhage, retinal detachment); treatment with systemic or topical carbonic anhydrase inhibitors (CAI). Results: Inter-eye symmetry revealed strong correlation in CRT (r = 0.77; p < 0.0001) and moderate correlations in MV (r = 0.51, p < 0.0001) and BCVA (r = 0.49; p < 0.0001). Weak or no correlations were observed between BCVA and structural parameters (CRT, MV). Peripheral retinoschisis was observed in 40 (68%), retinal detachment in 9 (15%), and vitreous hemorrhage in 5 (8%) patients, respectively. Longitudinal examinations (mean, 4.3 years) showed no BCVA changes; however, a reduction of the CRT (p = 0.02), and MV (p = 0.01) was observed. Oral and/or topical CAI treatment did not significantly alter the CRT (p = 0.34).20242026-06-08 12:57:53Neznano29847sl