Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.

Objective: To characterize and compare our cohorts of pediatric patients with types I and II Stickler syndrome, with a focus on ophthalmic features.

Design: Retrospective cohort study.

Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of type I or II Stickler syndrome.

Methods: Review of clinical notes and molecular diagnoses.

Main Outcome Measures: Ophthalmic and systemic features and responses to laser treatment.

Results: Our cohorts had an equal number of patients with COL2A1-related/type I and COL11A1-related/type II Stickler syndrome (n = 13; 50%) and included 12 previously unpublished variants. Patients in type I and II cohorts had similar average ages at presentation and length of follow-up. There were more self-identifying Hispanic patients among the type II cohort than type I (69% vs. 39%, P = 0.145). Individuals with type II on average had significantly higher myopia compared with those with type I (P = 0.008). Retinal detachment (RD) in at least 1 eye was diagnosed in 39% of the type I cohort (7 eyes, 5 patients) and 46% of the type II (7 eyes, 6 patients). Laser prophylaxis was used in 69% of patients with type I and 85% with type II. Unilateral RD after laser prophylaxis occurred in 1 patient with type I and 2 with type II. All identified COL2A1 variants in the type I cohort are expected to cause disease through haploinsufficiency, and 92% of COL11A1 variants in the type II cohort are presumed to be in-frame and exert a dominant-negative effect, consistent with historical reporting.

Conclusions: The proportion of types I and II Stickler syndrome are equal in our pediatric population, and patients self-identifying as Hispanic comprised the majority of type II, supporting the need for additional study of possible underdetection of type II in diverse populations. Our type II cohort showed higher myopia and incidence of Pierre Robin sequence, and similar rates of RD and systemic manifestations compared with the type I cohort. Our data sets provide important data regarding the safety and short-term effectiveness of laser prophylaxis, but larger and longer-term studies are needed, especially for those with type II Stickler syndrome.

Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.