Surgical Outcomes of Retinal Detachment in Knobloch Syndrome

Purpose: To describe the rate, characteristics, and outcomes of rhegmatogenous retinal detachment (RD) in patients with Knobloch syndrome. Design: A single-center retrospective cohort study. Participants: Fifty patients with Knobloch syndrome diagnosed clinically, with or without molecular confirmation of recessive pathogenic COL18A1 variants. Methods: A retrospective chart review of all patients diagnosed with Knobloch syndrome from November 1, 1983 to March 31, 2023. Demographic data, ophthalmic evaluation at baseline and follow-up, interventions, and final anatomic and visual outcomes were collected. Main Outcome Measures: Rate, time of onset, characteristics, and treatment outcomes of RD. Results: Fifty patients with Knobloch syndrome were included. Males constituted 56% of cases. The diagnosis was confirmed with molecular genetic testing in 37 (74%) patients. Twenty-two patients (44%) had documented occipital bony defects or scalp lesions. Forty-eight of 100 eyes (48%) developed RD at a mean (standard deviation [SD]) age of 6.5 (6.1) years. The mean (SD) follow-up was 7.7 (5.6) years (range, 6 months to 24.3 years). Macular hole-related RD comprised 33% of RD cases. The overall single-surgery success rate was 36% and the final anatomic success rate was 70%. Macular hole-related RD carried a slightly worse prognosis with a 58% final anatomic success rate. Vitrectomy with adjunct scleral buckle and silicone oil tamponade provided the highest single-surgery success (62.2%). In eyes with measurable best-corrected visual acuity (BCVA), the mean preoperative BCVA was 1.2 logarithm of the minimum angle of resolution (Snellen equivalent, 20/320). After successful repair, mean visual acuity was 1.3 logarithm of the minimum angle of resolution (Snellen equivalent, 20/500). Conclusions: Retinal detachment in Knobloch syndrome is frequent and occurs in young children. Macular hole-related RD comprises one third of RD cases and requires careful macular evaluation. Vitrectomy, combined with scleral buckling and silicone oil tamponade, appears to provide the best anatomic outcomes.