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Visual outcomes in children with syndromic craniosynostosis: a review of 165 cases
Anne-Marie Hinds1,2, Dorothy A Thompson2, Sohaib R Rufai2
1Department of Paediatric Ophthalmology, Moorfields Eye Hospital, London, United Kingdom.
Insights
Children with Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes often have vision problems, but most achieve good visual acuity. Optic neuropathy and nystagmus significantly impact vision, while visual evoked potentials (VEPs) aid assessment.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Craniosynostosis syndromes like Apert, Crouzon, Pfeiffer, and Saethre-Chotzen are associated with various ocular abnormalities.
- Understanding the visual outcomes and prevalence of amblyogenic risk factors in these patients is crucial for timely intervention.
Purpose of the Study:
- To determine visual outcomes and identify amblyogenic risk factors in children diagnosed with Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes.
- To assess the proportion of patients achieving a best-corrected visual acuity (BCVA) of 6/12 or better in their better eye.
Main Methods:
- A retrospective chart review was conducted on 165 patients with craniosynostosis syndromes.
- Data collected included refractive error, ocular alignment, anterior segment and fundus findings, visual evoked potentials (VEPs), and genetic information.
- The primary endpoint was the achievement of BCVA ≥ 6/12 in the better eye at the final visit.
Main Results:
- 76.7% of patients with available data achieved BCVA ≥ 6/12 in the better eye.
- High prevalence of refractive errors: 67.2% had astigmatism ≥ 1.00 DS, and 18.9% had anisometropia > 1.00 DS.
- Nystagmus and optic nerve (ON) involvement were significantly associated with decreased vision in the worse eye (p<0.01).
Conclusions:
- Despite a high prevalence of amblyogenic factors, most children with these syndromes achieve functional vision.
- Optic neuropathy and nystagmus are key factors negatively impacting visual acuity.
- VEPs are valuable in assessing overall visual function in this population.
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.
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