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Newer Understanding of Eye Issues in Craniofacial Malformations

  • Pediatric Ophthalmology (S. Robbins, Section Editor)
  • Published:
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Abstract

Pediatric patients with craniofacial abnormalities face unique challenges requiring early intervention and longitudinal care for their ocular and systemic problems. Non-syndromic and syndromic craniosynostoses involve asymmetric development of the cranial vault and facial bones, which frequently leads to ophthalmic manifestations, including strabismus, refractive error, and visual field losses. In recent years, ophthalmologists, craniofacial surgeons, and pediatricians involved in caring for craniosynostosis patients have found that timely surgery and monitoring, using refined devices such as spectral-domain optical coherence tomography, can lead to improved quality of life and prognosis for these patients. We review relevant literature from the past 5 years describing and managing ocular symptoms of craniosynostosis.

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References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

  1. Mazzola RF, Mazzola IC. Facial clefts and facial dysplasia: revisiting the classification. J Craniofac Surg. 2014;25:1.

    Article  Google Scholar 

  2. Schweinler B. Orthoptics and craniofacial syndromes. Am Orthopt J. 2014;64:21–3.

    Article  PubMed  Google Scholar 

  3. Festa F, Pagnoni M, Valerio R, et al. Orbital volume and surface after Le Fort III advancement in syndromic craniosynostosis. J Craniofac Surg. 2012;23:789–92.

    Article  PubMed  Google Scholar 

  4. Khan SH, Nischal KK, Dean F, et al. Visual outcomes and amblyogenic risk factors in craniosynostoic syndromes: a review of 141 cases. Br J Ophthalmol. 2003;87:999–1003.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. Rosenberg JB, Tepper OM, Medow NB. Strabismus in craniosynostosis. J Pediatr Ophthamol Strabismus. 2013;50:140–8.

    Article  Google Scholar 

  6. Lehman S. Strabismus in craniosynostosis. Curr Opin Ophthalmol. 2006;17:432–4.

    Article  PubMed  Google Scholar 

  7. Florisson JMG, van Veelen MC, Bannink N, et al. Papilledema in isolated single-suture craniosynostosis: prevalence and predictive factors. J Craniofac Surg. 2010;21:20–4.

    Article  PubMed  Google Scholar 

  8. Quintero-Rivera F, Martinez-Agosto JA. Bilateral exophthalmos: report of a case and review of fibroblast growth facor receptor 2 mutation associated with non-penetrant Crouzon syndrome. J Pediatr Child Health. 2010;46:693–5.

    Article  Google Scholar 

  9. Herman TE, Sargar K, Siegel MJ. Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. J Perinatol. 2014;34:164–5.

    Article  CAS  PubMed  Google Scholar 

  10. Chen C, Huang H, Liu Y, et al. Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. Taiwan J Obstet Gynecol. 2013;52:607–10.

    Article  PubMed  Google Scholar 

  11. Magdalene D, Kalita L, Deka A, Deka C. Midline craniofacial defects and morning glory disc anomaly with clinical anophthalmos – a distance clinical entity. Orbit. 2010;29(1):57–9.

    Article  CAS  PubMed  Google Scholar 

  12. Ortube MC, Dipple K, Setoguchi Y, et al. Ocular manifestations of oblique facial clefts. J Craniofac Surg. 2010;21(5):1630–1.

    Article  PubMed Central  PubMed  Google Scholar 

  13. Francois-Fiquet C, Wavreille O, Merol MLP, Doco-Fenzy M. Cleft palate and bilateral congenital cataract: a familial observation: a new syndrome? Br J Oral Maxillofac Surg. 2012;50:e109–12.

    Article  PubMed  Google Scholar 

  14. Triolo G, Ferrari G, Doglioni C, Rama P. In vivo confocal microscopy in goldenhar syndrome: a case report. BMC Ophthalmol. 2013;13:55.

    Article  PubMed Central  PubMed  Google Scholar 

  15. Matalia J, Katsuri N, Brodsky M. Synostotic anterior plagiocephaly: a cause of familial congenital superior oblique muscle palsy. Am Orthopt J. 2013;63:80–4.

    Article  PubMed  Google Scholar 

  16. Holmes JM, Hatt SR, Leske D. Superior oblique tucks for apparent inferior oblique overaction and V-pattern strabismus associated with craniosynostosis. Strabismus. 2010;18(3):111–5.

    Article  PubMed Central  PubMed  Google Scholar 

  17. Premalatha K. Apert syndrome. J Indian Soc Pedod Prev Dent. 2010;28(4):322–5.

    Article  Google Scholar 

  18. Kyung SE, Horton JC. Papilledema from craniosynostosis in pycnodyostosis. Pediatr Neurol. 2015;52:128–9.

    Article  PubMed Central  PubMed  Google Scholar 

  19. Kirman CN, Tran B, Sanger C, et al. Difficulties of delayed treatment of craniosynostosis in a patient with Crouzon syndrome, increased intracranial pressure and papilledema. J Craniofac Surg. 2011;22:1409–12.

    Article  PubMed  Google Scholar 

  20. Hsu C, Lin M, Sheu S. Manifested strabismus in a case of Apert syndrome. J Chin Med Assoc. 2011;74:95–7.

    Article  PubMed  Google Scholar 

  21. Barry GP, Ny B, Zackai EH, et al. A case report of a patient with Pfeiffer syndrome, an FGRF2 mutation (Try290Cys) and unique ocular anterior segment findings. Ophthalmic Genet. 2010;31(4):193–5.

    Article  CAS  PubMed  Google Scholar 

  22. Chandra A, Aragan-Martin JA, Sharif S, et al. Craniosynostosis with ectopia lentis and homozygous 20-base deletion in ADAMTSL4. Ophthalmic Genet. 2013;34(1–2):78–82.

    Article  CAS  PubMed  Google Scholar 

  23. de Jong T, Bannink N, Breder-Boelhouwer HH, et al. Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg. 2010;63:1635–41.

    Article  PubMed  Google Scholar 

  24. Tamburrini G, Calderelli M, Massimi L, et al. Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst. 2012;28:1511–23.

    Article  CAS  PubMed  Google Scholar 

  25. Khong JJ, Anderson P, Gray TL, et al. Ophthalmic findings in Apert’s syndrome after craniofacial surgery. Ophthalmology. 2006;113:347–52.

    Article  PubMed  Google Scholar 

  26. Gray TL, Casey T, Selva D, et al. Ophthalmic sequalae of Crouzon syndrome. Ophthalmology. 2005;112:1129–34.

    Article  PubMed  Google Scholar 

  27. Tuncbilek G, Alanay Y, Uzun H, et al. Intracranial and extracranial malformations in patients with craniofacial anomalies. J Craniofac Surg. 2010;21:1460–4.

    Article  PubMed  Google Scholar 

  28. •• Chung AE. Yun IL, Moon JK, et al. Ophthalmic findings in children with nonsyndromic craniosynostosis treated by expansion cranioplasty. J Craniofac Surg. 2015;26:79–83. Children with nonsyndromic craniosynostosis underwent expansion cranioplasty, and this paper examines the impact of this intervention on patients’ systemic and ocular symptoms. 51% (48/88) of the patients had refractive error in their vision, and 56% of the patients who completed orthopic examination (48/85) had strabismus. The expansion cranioplasty treated the patients’ abnormal head posture but did not improve the ocular symptoms of refractive error or ocular misalignment.

  29. Levy RL, Rogers GF, Mulliken JB, et al. Astigmatism in unilateral coronal synostosis: incidence and laterality. J AAPOS. 2007;11:367–72.

    Article  PubMed  Google Scholar 

  30. Tarczy-Hornoch K, Smith B, Urata M. Amblyogenic anisometropia in the contralateral eye in unicoronal craniosynostosis. J AAPOS. 2008;12:471–6.

    Article  PubMed  Google Scholar 

  31. Di Ricco C, Paternoster G, Calderelli M, et al. Anterior plagiocephaly: epidemiology, clinical findings, diagnosis and classification. A review. Childs Nerv Syst. 2012;28:1413–22.

    Article  Google Scholar 

  32. Gupta P, Foster J, Crowe S, et al. Ophthalmic findings in patients with non-syndromic plagiocephaly. J Craniofac Surg. 2003;14:529–32.

    Article  PubMed  Google Scholar 

  33. MacIntosh C, Wells R, Johnson D, et al. What are the effects of metopic synostosis on visual function? J Craniofac Surg. 2011;22:1280–3.

    Article  PubMed  Google Scholar 

  34. Denis D, Genitori L, Conrath J, et al. Ocular findings in children operated on for plagiocephaly and trigonocephaly. Childs Nerv Syst. 1996;12:683–9.

    Article  CAS  PubMed  Google Scholar 

  35. Ricci D, Vasco G, Baranello G, et al. Visual function in infants with non-syndromic craniosynostosis. Dev Med Child Neurol. 2007;49:574–6.

    Article  CAS  PubMed  Google Scholar 

  36. Grieg AVH, Britto JA, Abela C. Correcting the typical Apert face: combining bipartition with monobloc distraction. Plast Reconstr Surg. 2013;131:219e.

    Article  Google Scholar 

  37. •• Samra F, Paliga JT, Tahiri Y, et al. The prevalence of strabismus in unilateral coronal synostosis. Childs Nerv Syst. 2015;31:589–96. This paper describes the prevalence of strabismus in patients with unilateral coronal craniosynostosis both prior to receiving any craniofacial surgery (29/79 patients) and following fronto-orbital advancement (23/79 patients gettiing new-onset strabismus). Of these 51 total patients who had or developed strabismus, 30 ended up receiving eye muscle surgery.

  38. MacKinnon S, Proctor M, Rogers G. Improving ophthalmic outcomes in children with unilateral coronal synostosis by treatment with endoscopic strip craniectomy and helmet therapy rather than fronto-orbital advancement. J AAPOS. 2013;17:259–65.

    Article  PubMed  Google Scholar 

  39. Renier D, Lajeunie E, Arnaud E, et al. Management of craniosynostoses. Childs Nerv Syst. 2000;16:645–58.

    Article  CAS  PubMed  Google Scholar 

  40. de Jong T, Rijken BF, Lequin MH, et al. Brain and ventricular volume in patients with syndromic and complex craniosynostosis. Childs Nerv Syst. 2012;28:137–40.

    Article  PubMed Central  PubMed  Google Scholar 

  41. Nischal KK. Visual surveillance in craniosynostoses. Am Orthopt J. 2014;64:24–31.

    Article  PubMed  Google Scholar 

  42. Liasis A, Walters B, Thompson D, et al. Visual field loss in children with craniosynostosis. Childs Nerv Syst. 2011;27:1289–96.

    Article  PubMed  Google Scholar 

  43. • Dagi LR, Tiedemann LM, Heidary G, et al. Using spectral-domain optical coherence tomography to detect optic neuropathy in patients with craniosynostosis. J AAPOS. 2014;18:543–9. This paper highlights the use of OCT for optic nerve assessments in craniosynostosis.

  44. Driessen C, Eveleens J, Bleyen I, et al. Optic coherence tomography: a quantitative tool to screen for papilledema in craniosynostosis. Childs Nerv Syst. 2014;30:1067–73.

    PubMed  Google Scholar 

  45. Driessen C, Bannink N, Lequin M, et al. Are ultrasonography measurements of optic nerve sheath diameter an alternative to fundoscopy in children with syndromic craniosynostosis? J Neurosurg Pediatr. 2011;8(3):329–34.

    Article  PubMed  Google Scholar 

  46. Forbes BJ. Congenital craniofacial anomalies. Curr Opin Ophthalmol. 2010;21:367–74.

    Article  PubMed  Google Scholar 

  47. Greig AVH, Britto JA, Abela C, et al. Correcting the typical apert face: combining bipartition with monobloc distraction. Plast Reconstr Surg. 2013;131:219e.

    Article  CAS  PubMed  Google Scholar 

  48. Beckett JS, Persing JA, Steinbacher DM. Bilateral orbital dysmorphology in unicoronal synostosis. Plast Reconstr Surg. 2013;131:125.

    Article  CAS  PubMed  Google Scholar 

  49. Lo LJ, Marsh JL, Kane AA, et al. Orbital dysmorphology in unilateral coronal synostosis. Cleft Palate Craniofac J. 1996;33:191–7.

    Article  Google Scholar 

  50. Imai K, Fujimoto T, Takahashi M, et al. Preoperative and postoperative orbital volume in patients with Crouzon and Apert syndrome. J Craniofac Surg. 2013;24:191–4.

    Article  PubMed  Google Scholar 

  51. Kreiborg S, Cohen MM. Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings. J Craniofac Surg. 2010;21:1354–7.

    Article  PubMed  Google Scholar 

  52. Rosenberg JB, Tepper OM, Medow NB. Strabismus in craniosynostosis. J Pediatr Ophthalmol Strabismus. 2013;50(3):140–8.

    Article  PubMed  Google Scholar 

  53. Weiss AH, Phillips J, Kelley JP. Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus. IOVS. 2014;55:310–7.

    Google Scholar 

  54. de Jong T, Bannink N, Bredero-Boelhouwer HH, et al. Long-term functional outcomes in 167 patients with syndromic craniosynostosis: defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg. 2010;63:1635–41.

    Article  PubMed  Google Scholar 

  55. Tamburrini G, Calderelli M, Massimi L. Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst. 2012;28:1511–23.

    Article  CAS  PubMed  Google Scholar 

  56. Pattisapu JV, Gegg CA, Olvarria G, et al. Craniosynostosis: diagnosis and surgical management. Atlas Oral Maxillofac Surg Clin N Am. 2010;18:77–91.

    Article  Google Scholar 

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The authors declare they have no conflict of interest to disclose.

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Correspondence to Megan E. Collins.

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This article is part of the Topical collection on Pediatric Ophthalmology.

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Wu, A., Collins, M.E. Newer Understanding of Eye Issues in Craniofacial Malformations. Curr Ophthalmol Rep 3, 225–231 (2015). https://doi.org/10.1007/s40135-015-0084-6

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  • DOI: https://doi.org/10.1007/s40135-015-0084-6

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