Is genetic testing available for uveal coloboma?
Testing may be available in cases where the coloboma is part of a specific genetic syndrome. This testing would look for the gene(s) causing whole syndrome and not just the coloboma. Genetic testing is done on a blood sample and may involve looking at the patient’s chromosomes, or looking at a specific gene on one of the chromosomes. For definition and pictures of genes and chromosomes, please visit the National Library of Medicine’s Genetics Home Reference. There is no specific recommended testing for isolated coloboma. Testing for some of the genes that were reported in the medical literature might be performed as part of research projects. However, results from such testing will likely be negative, since these genes explain very few cases of uveal coloboma.
