Orthoptic findings in trigonocephaly patients after completed visual development

Trigonocephaly is associated with suboptimal visual outcomes in young children. However, the presence of orthoptic abnormalities after completed visual development remains unknown. The purpose of this study is to assess the prevalence of orthoptic abnormalities in trigonocephaly patients, after completed visual development.

A retrospective study among non-syndromic trigonocephaly patients aged 8 years and older was conducted at the Dutch Craniofacial center. Ophthalmologic records were reviewed for refractive errors and a history of strabismus and amblyopia. Refractive errors were classified as follows: myopia: spherical equivalent (SE) ≤ -0.50 diopters (D), emmetropia: SE -0.50 D to + 0.50 D, hyperopia: ≥ + 0.50 D, astigmatism: cylinder error ≥ 1.00 D. The history of strabismus and amblyopia was assessed retrospectively. Prevalence and cumulative incidence of these abnormalities in healthy age-matched populations were retrieved from literature.

We included 78 trigonocephaly patients with a median (interquartile range) age of 10.0 (9.0-12.0) years. Thirty-four (43.6%) of these patients presented with a refractive error after the age of 8 years. Specific findings in these 78 patients versus controls were hyperopia in 35.9% vs 8.4%; myopia in 6.4% vs 11.4%; astigmatism in 20.5% vs 11.9%; strabismus in 14.1% vs 2.65%; amblyopia in 6.4% vs 3.4%.

Trigonocephaly patients have a two-to-threefold higher risk of hyperopia, astigmatism, amblyopia, and strabismus, as compared to healthy populations. We recommend screening and, in case of abnormalities, regular follow-up before completed visual development. In addition, we recommend long-term surveillance of visual functioning by a pediatric ophthalmologist and/or orthoptist.