Prevention of Retinal Detachment in Type 2 Stickler Syndrome.

PURPOSE: Stickler syndrome is the most common cause of retinal detachment in children. The risk of retinal detachment and blindness in type 1 Stickler syndrome is significantly reduced with prophylactic cryotherapy, but there are no equivalent large studies assessing prophylaxis in type 2 Stickler syndrome. This study evaluates the safety and efficacy of the Cambridge prophylactic cryotherapy protocol in a national cohort of patients with genetically confirmed type 2 Stickler syndrome. DESIGN: Retrospective comparative case series. SUBJECTS: 197 patients with genetically confirmed type 2 Stickler syndrome. METHODS: Time to retinal detachment was compared in patients receiving a standardized prophylaxis protocol versus controls not receiving prophylaxis. Hazard ratios were calculated with and without patient matching. Analysis was also performed comparing patients who received unilateral prophylaxis (following retinal detachment in their other eye) to a control group. MAIN OUTCOME MEASURE: Time to retinal detachment. RESULTS: The risk of retinal detachment in the bilateral control group (n=100) was increased 5.7-fold compared to the bilateral prophylaxis group (n=85) (hazard ratio [HR] =5.7, 95% confidence interval [CI], 2.0-16.2; p<0.01). In the matched bilateral control group (n=79), the risk of retinal detachment was increased 3.3-fold compared to the matched bilateral prophylaxis group (n=79) (HR=3.3, 95% CI, 1.0-10.7; p=0.04). The risk of a second eye retinal detachment in the unilateral control group (n=34) was increased 10.1-fold compared to the unilateral prophylaxis group (n=12) (HR=10.1, 95% CI, 1.3-78.1; p=0.03). No patients suffered serious long-term adverse effects from prophylaxis. CONCLUSIONS: The Cambridge prophylactic cryotherapy protocol is apparently safe and appears to be effective in reducing the incidence of retinal detachment in patients with Type 2 Stickler syndrome.