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ColobomaA coloboma is the term used to describe a hole in one of the structures of the eye, such as the lens, eyelid, iris, retina, choroidor 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 womb, 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 retinaor optic nerveis missing, it may be poor and a large part of the visual field may be missing. This is more likely to cause problems with getting around if it is the lower visual field which is missing. Other conditions can be associated with a coloboma. Sometimes the eye may be reduced in size, a condition called microphthalmus, or there may be glaucoma, nystagmusor 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 lipand/or palate, ear abnormalities and hearing impairment, choanal atresia, delays in growth and development, central nervous systemanomalies and congenital heart defects. Research Studies on ColobomaDr. Lisa Schimmenti at the University of Minnesota is studying the genetics of coloboma. Contact her at las@umn.edu if you want to get involved in the study.
The National Institutes of Health (NIH) also has a coloboma study going on. Contact: Brian P. Brooks, M.D., Ph.D. National Eye Institute & National Human Genome Research Institute National Institutes of Health 10 Center Drive Building 10, Rm. 10N226, MSC 1860 Bethesda, MD 20892-1860 Phone: (301)-496-3577 Fax: 301-402-1214 brooksb@mail.nih.gov External links
Categories: Ophthalmology
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