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Genetic basis for Keratoconus


It is generally thought that there is a genetic basis for keratoconus. However, only about one person in twelve who has keratoconus knows of a relative who also has the condition, and even then there may only be one or two individuals in the family who are affected. This makes keratoconus more difficult to study than many other conditions. Genetic studies of a condition are facilitated if a family can be identified with several affected members. An alternative approach is to study a greater number of families in which only two or three individuals are affected.

Moorfields Eye Hospital and the Institute of Ophthalmology have established a collaborative study into the genetic basis of keratoconus. We are currently in touch with about sixty families who are prepared to help, but we need at least eighty families for the study to proceed. We are therefore keen to hear from people who have keratoconus and who also have at least one other close relative who is affected with keratoconus. A brother, sister, parent or child with keratoconus would be the most helpful. The more members of a family that have keratoconus the more the information we can obtain. For example, families with more than four affected individuals are very uncommon but would provide the greatest amount of information.

Participation in the study would involve family members attending for an eye examination to confirm the presence of keratoconus and providing a small blood sample. It may be possible for people living a long way from London to be examined locally. Reasonable travelling expenses would be met.

If you have a family history of keratoconus and would like to participate please contact the Keratoconus Group.

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Page last updated: 19 February, 2015