Sex-based differences in retinal detachment in a genotyped Stickler syndrome cohort: implications for preventive management

AIMS: Stickler patients. METHODS: This is a retrospective study including genotyped Stickler patients from two tertiary centres with at least one RRD. We analysed differences in the age of occurrence of RRD according to sex and genetic mutation. A multivariate analysis was used to analyse risk factors for RRD including sex, presence of preventive treatment, congenital myopia or extra-ophthalmologic conditions. RESULTS: patients, there was no significant difference in age of RRD between boys and girls. Preventive treatment (360° laser or scleral buckling) was the only independent protective factor for RRD (RR=-0.49 (±0.002); p<0.001). CONCLUSION: -Stickler patients, RRD occurs earlier in life but no sex difference was found. Based on these findings, if preventive treatment is considered, it should be performed before puberty, particularly earlier in boys with COL2A1-related Stickler syndrome and in both male and female patients with COL11A1 variants.