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How can uveal coloboma be inherited?

Dr. Jeanne Morrison, PhD
Family Practitioner

Isolated coloboma can follow all possible patterns of single-gene inheritance, namely autosomal dominant, autosomal recessive, and X-linked. In one family, however, coloboma will follow only one pattern. For instance, in case of an autosomal dominant pattern, a person with coloboma would have a 50/50 chance of passing on the coloboma to each of his or her offspring. In families with a single case of coloboma, it is not possible to identify the pattern of inheritance involved; therefore, it is not possible to give an exact recurrence risk number. The recurrence risk of coloboma computed from averaging data across many families (empiric risk) is about 10 percent. This is an imperfect number because it mixes information from families where this risk may be close to 0 percent with information from families where the actual risk may be 25 percent or even 50 percent.

The topic of inheritance of coloboma is complicated by several factors:

Sometimes, a person who is at risk for developing coloboma may not develop the condition, or it may be so minor that it goes unnoticed. This may appear in the family history as an inconsistent, noninterpretable pattern of inheritance.Knowing the pattern of inheritance of coloboma in a family does not give information on how severely an at-risk person will be affected (for example, how good their visual acuity will be).There may be more than one gene involved in being at risk for coloboma, which makes predicting inheritance even more difficult.

For coloboma due to a known syndrome, such as CHARGE syndrome, inheritance is based on what is known about that particular syndrome. However, it is rarely, if ever, possible to say whether coloboma will be a feature of the syndrome in a person inheriting the genetic background responsible for this syndrome.

The answer is based on source information from the National Institute of Diabetes and Digestive and Kidney Diseases.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.