Coloboma

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Coloboma
Classification and external resources
Coloboma.gif
ICD-10Q10.3, Q12.2, Q13.0, Q14.2, Q14.8
ICD-9377.23, 743.4, 743.46, 743.52, 743.57
DiseasesDB29894
MedlinePlus003318
MeSHD003103
 
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Coloboma
Classification and external resources
Coloboma.gif
ICD-10Q10.3, Q12.2, Q13.0, Q14.2, Q14.8
ICD-9377.23, 743.4, 743.46, 743.52, 743.57
DiseasesDB29894
MedlinePlus003318
MeSHD003103

A coloboma (from the Greek koloboma, meaning defect,[1]) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. The classical description in medical literature is of a key-hole shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. People with coloboma may have no vision problems or may be blind, depending on severity. It affects about 1 in every 10,000 births.

Presentation[edit]

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, scotoma, or strabismus.

Related conditions[edit]

Other ocular malformations that include coloboma or are related to it:

Causes[edit]

Colobomas can be associated with a mutation in the PAX2 gene.[3]

Incidence[edit]

The incidence of coloboma is estimated at around 0.5 to 0.7 per 10,000 births, making it a relatively rare condition.[4]

Perhaps the most famous people with coloboma are John Ritter, Henry Cavill, New York Times columnist Andrew Ross Sorkin, tennis player Arnaud Clément, alternative rock singer songwriter Lachi and Madeleine McCann. McCann, a British girl, disappeared from the holiday apartment rented by her parents in May 2007 just before her fourth birthday. Posters and online campaigns promoting the search for Madeleine use the word "Look" with the first "O" in the word being drawn in the shape of a coloboma radius extending from the pupil at the 7 o'clock position.

Treatment[edit]

There is no treatment for the visual impairment caused by coloboma at present. Specialized contact lenses can be used later in life for colobomas of the iris, and glasses can be used to help with vision problems.[5]

References[edit]

  1. ^ coloboma, Mosby's Medical, Nursing and Allied Health Dictionary, Fourth Edition, Mosby Year-Book, 1994, p. 361
  2. ^ Pagon RA, Graham JM, Zonana J, Yong SL (1981). "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association". J. Pediatr. 99 (2): 223–7. doi:10.1016/S0022-3476(81)80454-4. PMID 6166737. 
  3. ^ Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR (October 1998). "The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies". J. Med. Genet. 35 (10): 806–12. doi:10.1136/jmg.35.10.806. PMC 1051454. PMID 9783702. 
  4. ^ Hornby, SJ et al. "Visual acuity in children with coloboma". Ophthalmology 107(3):511-20
  5. ^ RNIB database - Supporting blind and partially sighted people - Coloboma; http://www.rnib.org.uk/eye-health-eye-conditions-z-eye-conditions/coloboma#P92_9303

External links[edit]