Retinal detachment and prophylaxis in type I Stickler syndrome

Purpose: To report the prevalence of retinal detachment (RD) and results of prophylaxis against detachment from a giant retinal tear in a large cohort of patients with type 1 Stickler syndrome. Design: Retrospective study. Participants: Two hundred four type 1 Stickler syndrome patients. Method. Pedigrees and individuals with type 1 Stickler syndrome were identified from the vitreous research clinic and divided into 3 groups. Group 1 consisted of patients who received no prophylaxis (control group). Group 2 consisted of patients who had bilateral 360 degrees prophylactic cryotherapy (study group). Group 3 consisted of patients referred with unilateral RD for surgical repair and who underwent prophylaxis in the fellow eye (mixed group). Main Outcome Measures: Retinal status after prophylaxis, with failure of prophylaxis being defined as the development of RD or retinal tears needing further retinopexy. Results: Of 111 patients who had no prophylactic retinopexy (group 1; mean age, 49 years), 73% (81/111) suffered RD and 48% (53/111) were bilateral. Of 62 patients who had bilateral prophylactic cryotherapy (group 2; mean age, 21 years), 8% (5/62) suffered failure of prophylaxis. There were no cases of bilateral detachments. The mean follow-up period was 11.5 years. In 31 patients who had unilateral prophylactic cryotherapy to the fellow eye (group 3; mean age, 36 years), failure occurred in 10% (3/31) of cases with a mean follow-up of 15.5 years. The prevalence of failure of prophylaxis in treated patients was significantly less than prevalence of RD in untreated patients (chi(2)(1) = 119.2, P<0.001). Conclusion: Prophylactic cryotherapy substantially reduces the risk of RD in type 1 Stickler syndrome and, in this series, eliminated the risk of bilateral detachments. Ophthalmology 2008;115:164-168 (c) 2008 by the American Academy of Ophthalmology.