Abstract
Purpose :
Patients with Stickler syndrome are at increased risk of retinal detachment (RD). The vast majority of Stickler syndrome is due to mutations in COL2A1 and COL11A1, which are responsible for type 1 and type 2 Stickler syndrome, respectively. Few studies have examined patients that had RD prior to presentation, or incident RD, in COL11A1 patients.
Methods :
Descriptive retrospective case series of patients with mutations in COL2A1 and COL11A1 presenting to the University of Utah without an incident RD from 2010 to 2020.
Results :
3 of 10 COL2A1 patients who received bilateral prophylactic laser or cryotherapy developed RD. Of these 3 COL2A1 patients with post-prophylaxis RD, all 3 received 360 cryotherapy and developed RD 2 weeks, 3 months, and 2 years after prophylaxis. 2 of 8 COL2A1 patients who did not initially receive prophylaxis developed RD. 0 of 6 COL11A1 subjects who received prophylaxis developed RD and 0 of 5 COL11A1 subjects who did not initially receive prophylaxis developed RD. The average length of follow-up was 5.7 +/- 5.3 years for COL2A1 patients and 7.1 +/- 4.1 years for COL11A1 patients.
Conclusions :
In our sample, despite prophylactic treatment, incidence of RD in patients with COL2A1 mutations was higher compared to patients with COL11A1 mutations. We also noted a high rate of RD occurring soon after 360 cryotherapy prophylaxis.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.