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Coloboma Classification and external resources
ICD-10	Q10.3, Q12.2, Q13.0, Q14.2, Q14.8
ICD-9	377.23, 743.4, 743.46, 743.52, 743.57
DiseasesDB	29894
MeSH	D003103

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, eyelid, iris, retina, choroid or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure 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.

Presentation

A scotoma is usually found.^[1]

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).

Related conditions

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 palate, ear abnormalities and hearing impairment, choanal atresia, delays in growth and development, central nervous system anomalies and congenital heart defects.

Causes

Colobomas can be associated with a mutation in the PAX2 gene.^[2]

Incidence

The incidence of coloboma is estimated at around 0.5 to 0.7 per 10,000 births, making it a relatively rare condition.^[3] This is one of the symptoms of the Klinefelter Syndrome.^{[citation needed]}

References

1. ^ Coloboma at Dorland's Medical Dictionary
2. ^ 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. PMID 9783702. 
3. ^ Hornby, SJ et al. "Visual acuity in children with coloboma". Ophthalmology 107(3):511-20

External links

• Micro & Anophthalmic Children's Society

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