How can uveal coloboma be inherited?
Isolated coloboma can follow all possible patterns of single gene inheritance, namely autosomal dominant, autosomal recessive and X-linked. For more information on inheritance patterns, please visit the National Library of Medicine’s Genetics Home Reference. 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 say what pattern of inheritance is 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, as 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 i
