View source for Coloboma

{{DiseaseDisorder infobox |
  Name           = Coloboma |
  ICD10          = Q10.3, Q12.2, Q13.0, Q14.2, Q14.8 |
  ICD9           = {{ICD9|377.23}}, {{ICD9|743.4}}, {{ICD9|743.46}}, {{ICD9|743.52}}, {{ICD9|743.57}} |
  ICDO           = |
  Image          = |
  Caption        = |
  OMIM           = |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  DiseasesDB     = 29894|
}}
{{SI}}
{{CMG}}



A '''coloboma''' (also part of the rare '''[[Cat Eye syndrome]]''') is a hole in one of the structures of the [[eye]], such as the [[lens (anatomy)|lens]], [[eyelid]], [[iris (anatomy)|iris]], [[retina]], [[choroid]] or [[optic disc]]. The hole is present from birth and can be caused when a gap between two structures in the eye, which is present early in development in the [[uterus]], fails to close up completely before a child is born. A coloboma can occur in one or both eyes.

The effects a coloboma has on the vision can be mild or more severe depending on the size and location of the gap. If, for example, only a small part of the iris is missing, vision may be normal, whereas if a large part of the [[retina]] or [[optic nerve]] is missing, vision may be poor and a large part of the visual field may be missing. This is more likely to cause problems with mobility if the lower visual field is absent. Other conditions can be associated with a coloboma. Sometimes the eye may be reduced in size, a condition called [[microphthalmia]], or there may be [[glaucoma]], [[nystagmus]] or [[strabismus]] (squint). 

Some children with coloboma of the eye also have malformations in other parts of the body. There is a rare condition called [[CHARGE syndrome]], in which coloboma is associated with [[cleft lip]] and/or [[cleft palate|palate]], ear abnormalities and hearing impairment, [[choanal atresia]], delays in growth and development, [[central nervous system]] anomalies and [[congenital heart defects]].

The [[Incidence (epidemiology)|incidence]] of coloboma is estimated at around 0.5 to 0.7 per 10,000 births, making it a relatively rare condition. <!--The parents of [[Madeleine McCann]], who was abducted while on holiday on [[May 3]] [[2007]] in [[Praia da Luz]], [[Portugal]], have asked health professionals to look out for their daughter with reference to her coloboma of her right iris.<ref>[http://multimedia.thelancet.com/pdf/madeleine_comment.pdf Comment in The Lancet]</ref>--><ref name="pmid10711890">{{cite journal |vauthors=Hornby SJ, Adolph S, Gilbert CE, Dandona L, Foster A |title=Visual acuity in children with coloboma: clinical features and a new phenotypic classification system |journal=Ophthalmology |volume=107 |issue=3 |pages=511–20 |date=March 2000 |pmid=10711890 |doi= |url=}}</ref>

==Differentiating coloboma from Other Diseases==
Coloboma must be differentiated from [[retinoblastoma]], [[Norrie disease]], and [[Retinopathy of prematurity]] ([[Retinopathy of prematurity|ROP]]).<ref name="pmid11875173">{{cite journal |vauthors=Butros LJ, Abramson DH, Dunkel IJ |title=Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences |journal=Pediatrics |volume=109 |issue=3 |pages=E45 |date=March 2002 |pmid=11875173 |doi= |url=}}</ref><ref name="pmid21680213">{{cite journal |vauthors=Sachdeva R, Schoenfield L, Marcotty A, Singh AD |title=Retinoblastoma with autoinfarction presenting as orbital cellulitis |journal=J AAPOS |volume=15 |issue=3 |pages=302–4 |date=June 2011 |pmid=21680213 |doi=10.1016/j.jaapos.2011.02.013 |url=}}</ref><ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref><ref name="pmid5897773">{{cite journal |vauthors=Howard GM, Ellsworth RM |title=Differential diagnosis of retinoblastoma. A statistical survey of 500 children. I. Relative frequency of the lesions which simulate retinoblastoma |journal=Am. J. Ophthalmol. |volume=60 |issue=4 |pages=610–8 |date=October 1965 |pmid=5897773 |doi= |url=}}</ref><br>
For more information on [[differential diagnosis]] of coloboma please [[Retinoblastoma differential diagnosis|click here]]
== Notes ==
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== External links ==
*[http://www.macs.org.uk/ Micro & Anophthalmic Children's Society]
*[http://www.widerworld.co.uk/charge/index.htm The CHARGE Family Support Group]

{{Congenital malformations and deformations of eye, ear, face and neck}}
{{Eye pathology}}

[[Category:Ophthalmology]]
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