Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons

Stickler syndrome (SS) is the leading cause of hereditary retinal detachment (RD) in children and is characterized by ophthalmic, auditory, orofacial, and articular abnormalities. Vision loss often results from retinal events (RE), including retinal tears and detachments.

To identify clinical and genetic risk factors for retinal events in patients with SS, to guide screening and preventive care.

This retrospective cohort study included 78 patients with clinically or genetically confirmed SS seen at the University Medical Center Utrecht between 2000 and 2019. Predictors included family history of SS, presence of a COL2A1 pathogenic variant, and degree of myopia. The primary outcome was occurrence of a retinal event, defined as a retinal tear or detachment confirmed by an ophthalmologist. Covariates were age, sex, Pierre Robin sequence, refractive error, retinopathy, hearing problems, joint problems, and cleft palate. Descriptive statistics, univariate analyses, and multivariate Kaplan-Meier survival models with multiple imputation and Firth's correction were used.

Nineteen of 78 patients (24%) developed at least one retinal event at a median age of 14 years. Multivariate analysis revealed that a positive family history of SS (HR 5.53, 95% CI 1.42-21.55), COL2A1 pathogenic variant (HR 3.59, 95% CI 1.00-12.82), and greater myopic refractive error (HR 0.86, 95% CI 0.74-0.99) were significantly associated with increased RE risk.

A positive family history, COL2A1 mutation, and higher myopia independently predict retinal events in Stickler syndrome. Regular ophthalmologic screening is recommended for younger and high-risk patients, while education on early symptoms of retinal detachment is essential for older children and adults.