Periorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome.

Background: The authors examined ophthalmologic outcomes and periorbital management in patients with Treacher Collins syndrome (TCS).

Methods: A retrospective cohort study was performed of children with TCS treated from 2009 to 2023 at the authors' center. Demographic data and medical histories were collected. Primary outcomes were periorbital findings, surgical burden, and visual acuity. Patients were stratified by risk of vision loss based on ophthalmologic findings.

Results: Among 50 subjects, the mean follow-up was 10.5 ± 5.9 years. Periorbital findings included downslanting palpebral fissures (100%), eyelash deficiency (70%), eyelid coloboma (54%), and significant refractive error (50%). Twenty individuals (40%) underwent 86 periorbital procedures, including lateral canthopexy ( n = 23 operations) and malar/zygomatic reconstruction/augmentation ( n = 20). Lateral canthopexies accompanied by malar fat grafting were less likely to require reoperation (0% versus 72%; P = 0.004). Subjects with eyelid coloboma were more likely to have exposure keratopathy (30% versus 4%; P = 0.020). Grouped by risk of vision loss, 58% were high risk, 18% were moderate risk, and 24% were low risk. Among 78 eyes of 39 subjects, vision was good in 90%, fair in 5%, and poor in 6%. Vision risk grading was associated with visual acuity outcomes ( n = 29) ( P = 0.050).

Conclusions: In assessing long-term ophthalmologic outcomes, the authors noted good vision despite significant periorbital anomalies. Alhough most eyelid colobomas can be managed with lubrication, those threatening corneal integrity should be repaired in infancy. As timely intervention may prevent visual impairment, the authors recommend perinatal ophthalmologist evaluation for all children with TCS. Their proposed vision risk scale may serve as a helpful paradigm by which to contemplate vision-related issues.