Ocular Genetics

Since the identification of a gene mutation in X-linked retinitis pigmentosa in the 1980s, there has been an explosion of discovery of other genes involved in vision and mutations responsible for inherited eye disease. It is becoming easier and cheaper to test patients with suspected genetic eye disorders against an ever-increasing library of known gene mutations.

With this increase in knowledge has come an increasing responsibility to provide information to patients with inherited eye disease that will help them come to terms with their condition and to make informed decisions about their own future and the future of their families.

The relationship between a genetic mutation and the disease it causes is not a simple one.   In some cases, the same mutation in two family members may cause quite different symptoms and signs, or it may produce disease of differing severity. The task of communicating the complexities and uncertainties of genetic information to patients can be challenging.

Ophthalmologists with an interest in ocular genetics are usually involved in clinical or basic science research, but may also carry responsibility for another sub-specialty of ophthalmology in their unit such as medical retina.  They may receive referrals from a wide range of ophthalmic sub-specialties.   They may be supported in their role by specialist nurses who are trained in genetic counselling of patients.