Visual outcomes in children with syndromic craniosynostosis: a review of 165 cases

Objective To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. Methods We conducted a single-centre, retrospective chart review of patients assessed at our unit between October 2000 and May 2017. Our outcome measures were as follows: age at first and last examination, refraction, horizontal ocular alignment, alphabet pattern deviations, anterior segment appearance, fundus examination findings, visual evoked potentials (VEPs) and genetics. The study's primary endpoint was the proportion of children achieving best-corrected visual acuity (BCVA) >= 6/12 in the better eye at final visit, as per UK driving standards. Results 165 patients were included in this study. Breakdown of diagnoses was as follows: Crouzon (n = 60), Apert (n = 57), Pfeiffer (n = 14) and Saethre-Chotzen (n = 34). 98 patients were male. Of 133 patients with full BCVA data available, 76.7% achieved BCVA >= 6/12 in the better eye. Of 122 patients, anisometropia >1.00 dioptre sphere (DS) affected 18.9% and astigmatism >= 1.00DS in at least one eye affected 67.2%. Of 246 eyes, 48.4% had oblique astigmatism. Of 165 patients, 60 had exotropia and 12 had esotropia. 48 of 99 patients demonstrated 'V' pattern. On multivariable logistic regression, nystagmus (p = 0.009) and ON involvement (p = 0.001) were associated with decreased vision in the worse eye. Normal VEPs were associated with better BCVA (p = 0.036). Conclusion There was a high prevalence of amblyogenic factors, however, the majority achieved BCVA >= 6/12 in their better eye. Optic neuropathy and nystagmus had the most significant impact on vision. VEPs can help the in overall assessment of visual function.

Automated summary

The study aimed to assess visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. The majority of patients achieved best-corrected visual acuity >= 6/12 in their better eye despite a high prevalence of amblyogenic factors. Optic neuropathy and nystagmus had significant impact on vision, while Visual Evoked Potentials (VEPs) were helpful in assessing overall visual function.