Ocular and adnexal anomalies in Treacher Collins syndrome: a retrospective multicenter study

Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by bilateral hypoplasia of facial structures and periorbital, ocular, and adnexal anomalies. The purpose of this multicenter study was to report the prevalence of ocular and adnexal anomalies in TCS and to identify patients at risk for visual impairment.

The medical records of patients seen at four craniofacial centers were reviewed retrospectively. The following data were reported: primary and secondary ocular and adnexal anomalies, orthoptic and ophthalmological findings, and severity of TCS based on the facial deformity.

A total of 194 patients were included, of whom 49.5% were examined by an ophthalmologist or optometrist. The mean age at the first visual acuity measurement was 6.96 ± 6.83 years (range, 1.50-47.08); at final measurement, 11.55 ± 10.64 years (range, 1.75-62.58). Primary ocular anomalies were reported in 98.5% of cases, secondary anomalies in 34.5%, strabismus in 27.3%, refractive errors in 49.5%, and visual impairment in 4.6%. We found no association between ocular anomalies and visual impairment or between the severity of TCS and ocular anomalies or visual impairment, except for an increased prevalence of secondary ocular anomalies in patients with more severe manifestations of TCS.

Ocular anomalies were present in nearly all patients with TCS, even in mild cases.