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Ocular Malformations

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Abstract

Ocular malformations (Ricci, Oftalmologia Pediatrica. Trattati Mattioli, Roma; 2006, Taylor, Pediatric Ophthalmology. 1st. Blackwell Scientific Publications, London; 1990) are numerous: some are already evident at birth or during the first few months of life, while others show themselves at a later stage.

Ocular malformations can be a sign of more complex and general pathologies, and the importance of early recognition should not be underestimated for those which can cause a damage to the vision and/or amblyopia (interruption of the development of the visual function).

Ocular malformations of the anterior segment are easily recognizable during examination, the ones of the posterior segment either are associated with the former or, more frequently, have as first symptom a constant or intermittent strabismus.

Differences in size, asymmetry, opening, and color between the two eyes should never be underestimated as they could be a sign of possible malformations.

The pediatrician is crucial and can help in a timely diagnosis of congenital eye pathologies and will recommend that the patient sees a specialist for further examination.

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References

  • Allen CE, Rubin PA (2008 Spring) Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. Int Ophthalmol Clin 48(2):15–23

    Article  Google Scholar 

  • American Academy of Pediatrics (2008) Reflex examination in neonates, infants, and children. Pediatrics 122:1401–1404

    Article  Google Scholar 

  • Baroody M, Holds JB, Vick VL (2005) Advances in the diagnosis and treatment of ptosis. Curr Opin Ophthalmol 16:351–355

    Article  Google Scholar 

  • Clauser L, Tieghi R, Galiè M (2006) Palpebral ptosis: clinical classification, differential diagnosis, and surgical guidelines: an overview. J Craniofac Surg 17:246–254

    Article  Google Scholar 

  • Faiq M, Sharma R, Dada R, Mohanty K, Saluja D, Dada T (2013) Biochemical and clinical insights into primary congenital glaucoma. J Curr Glaucoma Pract 7(2):66–84

    Article  Google Scholar 

  • Gazzola R, Piozzi E, Lanfranchi AL, Baruffaldi Preis FW (2011) Congenital ptosis and blefarophimosis: retrospective analysis of the effectiveness of correction with levator resection and frontalis suspension. Pediatr Med Chir 33(3):129–133

    CAS  PubMed  Google Scholar 

  • Kim JW, Lee H et al (2013) Amblyopia risk factors in infants with congenital naso-lacrimal duct obstruction. J Craniofac Surg 24(4):1123–1125

    Article  Google Scholar 

  • Kraker JH, Mannis MJ, Holland EJ (2005) Cornea: fundamentals, diagnosis and management, 2nd edn. Elsevier Mosby, Philadelphia

    Google Scholar 

  • Lee H (2010) Complication and visual prognosis in children with aniridia. J Pediatr Ophthalmol Strabismus 47:205–210

    Article  Google Scholar 

  • Ricci B (2006) Oftalmologia Pediatrica. Trattati Mattioli, Roma

    Google Scholar 

  • Schittkowski MP, Guthoff RF (2010) Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients. Br J Ophthalmol 94:487–493

    Article  CAS  Google Scholar 

  • Shiple D, Finklea B, Lauderdale JD, Netland PA (2015) Keratopathy, cataract, and dry eye in a survey of aniridia subjects. Clin Ophthalmol 9:291–295 . Published online 2015 February 10

    PubMed  PubMed Central  Google Scholar 

  • Tawfik HA, Abdulhafez MH, Fouad YA (2015) Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. Ophthal Plast Reconstr Surg 31(1):1–12

    Article  Google Scholar 

  • Taylor D (1990) Pediatric ophthalmology, 1st edn. Blackwell Scientific Publications, London

    Google Scholar 

  • Uhumwangho OM, Jalali S (2014) Chorioretinal coloboma in a paediatric population. Eye (Lond) 28(6):728–733

    Article  CAS  Google Scholar 

Download references

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Authors and Affiliations

  1. Department of Pediatric Ophthalmology, Niguarda Ca’ Granda Hospital, Milan, Italy

    Elena Piozzi & Alessandra Del Longo

Authors
  1. Elena Piozzi
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  2. Alessandra Del Longo
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Corresponding author

Correspondence to Elena Piozzi .

Editor information

Editors and Affiliations

  1. Siena, Italy

    Giuseppe Buonocore

  2. Medicina della Riproduzione, Università di Siena Dipto. Pediatria, Ostetricia e, Siena, Italy

    Rodolfo Bracci

  3. Liverpool Women's Hospital Neonatal Unit, Liverpool, United Kingdom

    Michael Weindling

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Open Access This chapter is distributed under the terms of the Creative Commons Attribution Noncommercial License, which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

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© 2016 Springer International Publishing AG

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Piozzi, E., Del Longo, A. (2016). Ocular Malformations. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Cham. https://doi.org/10.1007/978-3-319-18159-2_282-1

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  • DOI: https://doi.org/10.1007/978-3-319-18159-2_282-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-18159-2

  • Online ISBN: 978-3-319-18159-2

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