Acta ophthalmologica · 2025
Long-term results of conservative and surgical treatment of congenital x-linked retinoschisis: A retrospective multicentre international study.
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Özdek Şengül, Özdemir Hüseyin Baran, Bhende Muna, Bhende Pramod, Sen Parveen, Ratra Dhanashree, Dasgupta Debarati, Hartnett M Elizabeth, Simonett Joseph M, Shah Parag K, Das Abhishek, Kusaka Shunji, Ferrone Philip J, Lee Jessica, Rosenblatt Brett, Rhee David, Shakin Eric, Matsushita Itsuka, Othman Ihab Saad, Ahmed Anas, Teke Mehmet Yasin, Dülger Selda Çelik, Avcı Remzi, Parolini Barbara, Wu Wei Chi, Nawrocka Zofia Anna, Nawrocka Zofia, Nawrocki Jerzy, El Rayes Ehab, Gürelik Gökhan, Ghazi Nicola
Аннотация
PURPOSE: To evaluate the demographic and clinical characteristics, treatment indications, long-term outcomes and prognostic factors in patients with congenital x-linked retinoschisis (CXLR) managed conservatively or surgically.
METHODS: This retrospective, international, multicentre study included data from retina specialists across 14 centres in 9 countries. Demographic information, best corrected visual acuity (BCVA), phenotype, optical coherence tomography (OCT) findings and disease management were analysed. Surgical indications, techniques and anatomical and visual outcomes were evaluated.
RESULTS: A total of 635 eyes of 318 patients were included. Median age at presentation was 9 years (range: 0-81). Observation was preferred in 73.5% of eyes, laser photocoagulation (LPC) in 9.3% and vitreoretinal surgery in 18.1%. Surgical patients presented younger (7 vs. 10 years; p = 0.002) and with worse baseline BCVA (1.50 vs. 0.50 LogMAR; p < 0.0001). Disease symmetry was lower in surgical cases (24.4%) than in conservative and LPC groups (p < 0.0001). Vitreous veils, peripheral pigmentary changes and white spiculations were predictive of surgical need, particularly in eyes with rhegmatogenous retinal detachment (RRD) and vitreous haemorrhage (VH). OCT predictors of peripheral progression included absence of ganglion cell layer cysts and presence of outer plexiform layer cysts. Single-surgery anatomical success was 68.7%, increasing to 94.7% with additional procedures. Inner-wall retinectomy significantly improved outcomes in macula-threatening retinoschisis (p = 0.026). Visual acuity improved significantly after surgery in RRD and VH cases (p = 0.003).
CONCLUSION: CXLR shows a broad clinical spectrum requiring individualized care. Fundus and OCT features effectively predicted progression and surgical need. Surgical management achieved high success, with inner-wall retinectomy beneficial in certain cases.
METHODS: This retrospective, international, multicentre study included data from retina specialists across 14 centres in 9 countries. Demographic information, best corrected visual acuity (BCVA), phenotype, optical coherence tomography (OCT) findings and disease management were analysed. Surgical indications, techniques and anatomical and visual outcomes were evaluated.
RESULTS: A total of 635 eyes of 318 patients were included. Median age at presentation was 9 years (range: 0-81). Observation was preferred in 73.5% of eyes, laser photocoagulation (LPC) in 9.3% and vitreoretinal surgery in 18.1%. Surgical patients presented younger (7 vs. 10 years; p = 0.002) and with worse baseline BCVA (1.50 vs. 0.50 LogMAR; p < 0.0001). Disease symmetry was lower in surgical cases (24.4%) than in conservative and LPC groups (p < 0.0001). Vitreous veils, peripheral pigmentary changes and white spiculations were predictive of surgical need, particularly in eyes with rhegmatogenous retinal detachment (RRD) and vitreous haemorrhage (VH). OCT predictors of peripheral progression included absence of ganglion cell layer cysts and presence of outer plexiform layer cysts. Single-surgery anatomical success was 68.7%, increasing to 94.7% with additional procedures. Inner-wall retinectomy significantly improved outcomes in macula-threatening retinoschisis (p = 0.026). Visual acuity improved significantly after surgery in RRD and VH cases (p = 0.003).
CONCLUSION: CXLR shows a broad clinical spectrum requiring individualized care. Fundus and OCT features effectively predicted progression and surgical need. Surgical management achieved high success, with inner-wall retinectomy beneficial in certain cases.