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Coloboma
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Coloboma may be isolated or associated with other systemic findings, or specific genetic disorders. The occurrence of Coloboma may be sporadic (with no other associated family members), or may be inherited. A few genes have been identified that give rise to isolated ocular Colobomas either with or without Microphthalmia. Dominant mutations in PAX2 and PAX6 cause optic nerve Colobomas, in the MAF gene result in iris Coloboma and in the SHH gene cause Coloboma and Microphthalmia. Further genes may have been identified in the case where Colobomas are part of a recognised syndrome.
Prenatal diagnosis
High resolution ultrasound or fetoscopy (observation of the fetus by introduction of a stethoscope through a small incision into the abdomen under local anaesthetic) could provide details of the fetal eye in the second trimester.
Genetic counselling is available in cases of specific genetic disorder, in familial cases of Coloboma, or if requested for isolated Coloboma. At present, genetic testing for isolated Coloboma is only carried out on a research basis.
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