The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery

Sharma, Neharika; Greenwell, Timothy; Hammerton, Michael; David, David J.; Selva, Dinesh; Anderson, Peter J.

doi:10.1016/j.jaapos.2016.04.007

Cited by 14 publications

(19 citation statements)

References 11 publications

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“…The prevalence of papilledema in our study (8.3%) is comparable to the numbers reported by Sharma et al 24 (5%) and Tay et al 15 (9.5%). Our prevalence of optic atrophy (11.4%) is comparable to the study by Grey et al 3 (13%).…”

Section: Discussionsupporting

confidence: 89%

Ophthalmic features of craniosynostosis: A Malaysian experience

Ali

Ismail

Choo

et al. 2021

European Journal of Ophthalmology

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Background: This study aims to collect local Malaysian data regarding the ophthalmic features and complications in craniosynostosis patients who attended the Combined Craniofacial Clinic (CFC) in University Malaya Medical Centre (UMMC). Methods: Retrospective study of medical notes of craniosynostosis patients who attended the CFC in UMMC from 2014 to December 2020. Results: Out of 37 patients, 29 had syndromic craniosynostosis, and 8 had non-syndromic craniosynostosis. Visual impairment was present in 32.1% of patients. Causes for visual impairment were as follows – amblyopia (25.0%), exposure keratopathy (3.6%), and optic atrophy (3.6%). Hypermetropia and myopia were each seen in 20.6% of patients. Astigmatism was seen in 47.1% of patients, and 29.1% had anisometropia. Proptosis was present in 78.6% and lagophthalmos in 53.3% of patients. Strabismus in primary position occurred in 51.7% of patients. Thirty-one percent of the patients had exposure keratopathy. Optic disc atrophy was seen in 13.7% of patients, and 8.3% had optic disc swelling. Optic disc swelling was resolved in all patients who underwent craniofacial surgery. Conclusion: Our experience in Malaysia was consistent with previously reported data on ophthalmic features of craniosynostosis patients. Additionally, we found that non-syndromic craniosynostosis patients are also at risk of ocular complications just as much as syndromic patients. Appropriate treatment of amblyogenic risk factors, ocular complications, and timely detection of papilledema, and prompt surgical intervention are crucial in preserving long-term visual function in these patients.

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Section: Discussionsupporting

confidence: 89%

Ophthalmic features of craniosynostosis: A Malaysian experience

Ali

Ismail

Choo

et al. 2021

European Journal of Ophthalmology

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“…Many papers have discussed the long-term visual outcomes after craniofacial surgery in all kinds of craniosynostosis [26][27][28][29], and few papers have shared experience with lid abnormalities in cases of craniosynostosis.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmological outcomes of unilateral coronal synostosis in young children

et al. 2020

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Background: To report refractive outcomes, describe types of strabismus and evaluate the outcomes of surgical intervention for unilateral coronal synostosis (UCS) in paediatric patients. Methods: This study retrospectively included 30 UCS cases. Patients aged from 3 months to 6 years (median: 1.8 years) were enrolled from January 2018 to December 2019 at Shanghai Children's Hospital. Sixteen patients had all types of strabismus; 15 of these patients underwent surgery. Results: Refractive errors of 30 cases were included. In 60% of patients, astigmatism of 1.00D or more existed in not less than one eye at last record. Twenty (66.7%) patients had the larger amount of astigmatism in the contralateral eye. Fifteen patients received strabismus surgery, of whom 6 patients with monocular elevation deficiency (MED) underwent the standard Knapp procedure, with or without a horizontal deviation procedure. Fifteen cases were horizontally aligned within 5 prism dioptres (Δ). Six patients with MED (100%) had attained ≥25% elevation improvement after surgery, and the vertical deviation decreased from 25.83 Δ ± 4.92 Δ (range, 20 Δ-30 Δ) to 0.83 Δ ± 4.92 Δ after surgery (range, 0 Δ-10 Δ), for an improvement of 26.67 Δ ± 4.08 Δ (t = 16 P < 0.05). In 1 patient with esotropia, the horizontal deviation decreased from + 80 Δ to + 5 Δ after surgery. One patient was diagnosed with trichiasis and one with contralateral lacrimal duct obstruction. Conclusions: Contralateral MED was also the main type of strabismus in UCS. Superior oblique muscle palsy was still the most common, as previously reported. There is a risk of developing a higher astigmatism and anisometropia in the contralateral eye to synostosis. Other ophthalmic disorders should be treated in a timely manner. Trial registration: The study was approved by the Institutional Review Board of Shanghai Children's Hospital (approval No. 2020R023-E01) and adhered to the tenets of the Declaration of Helsinki. Ethics approval was procured on March 30, 2020. This was a retrospective study. Written informed consent was sought from the patients' parents or legal guardians. Clinical Trials Registry number: ChiCTR2000034910. Registration URL: http://www.chictr.org.cn/showproj.aspx?proj=56726.

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“…Recent clinical updates have been published on prevalence of tracheal cartilaginous sleeve [15] and progressive postnatal pansynostosis [16] in syndromic craniosynostosis, both of which highlight the particularly high burden of complications arising from FGFR2 mutations. Additional FGFR2 mutation-focused phenotype studies have been published on foramen magnum size [17], ophthalmic complications [18] and intestinal malrotation [19]. Complications were found to be differentially enriched in different syndromes: tracheal sleeve, proptosis and exposure keratitis were particularly associated with Pfeiffer syndrome, whereas insidious postnatal pansynostosis was most common in Crouzon syndrome.…”

Section: Syndromic Craniosynostosismentioning

confidence: 99%

Clinical genetics of craniosynostosis

Wilkie

Johnson²,

Wall³

2017

Current Opinion in Pediatrics

153

169

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Purpose of review When providing accurate clinical diagnosis and genetic counselling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between. This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation of craniosynostosis. Recent findings Survey of a 13-year birth cohort of patients treated at a single craniofacial unit demonstrates that a genetic cause of craniosynostosis can be identified in one quarter of cases. The substantial contributions of mutations in two genes, TCF12 and ERF, is confirmed. Important recent discoveries are mutations of CDC45 and SMO in specific craniosynostosis syndromes, and of SMAD6 in non-syndromic midline synostosis. The added value of exome or whole genome sequencing in the diagnosis of difficult cases is highlighted. Summary Strategies to optimise clinical genetic diagnostic pathways by combining both targeted and next-generation sequencing are discussed. As well as improved genetic counselling, recent discoveries spotlight the important roles of signalling through the bone morphogenetic protein and hedgehog pathways in cranial suture biogenesis, as well as a key requirement for adequate cell division in suture maintenance.

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The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery

Cited by 14 publications

References 11 publications

Ophthalmic features of craniosynostosis: A Malaysian experience

Ophthalmic features of craniosynostosis: A Malaysian experience

Ophthalmological outcomes of unilateral coronal synostosis in young children

Clinical genetics of craniosynostosis

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