Retinal detachment and prophylaxis in type 1 Stickler syndrome.

Abstract

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. Retrospective study. Two hundred four type 1 Stickler syndrome patients. 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). Retinal status after prophylaxis, with failure of prophylaxis being defined as the development of RD or retinal tears needing further retinopexy. 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 (chi2(1) = 119.2, P<0.001). Prophylactic cryotherapy substantially reduces the risk of RD in type 1 Stickler syndrome and, in this series, eliminated the risk of bilateral detachments.