Ophthalmic Genetic Tests

Retinitis Pigmentosa (RP) is an eye disease that affects a person’s night vision and peripheral vision. Symptoms start with decreased night vision and later progress to diminishing peripheral vision. The rate of decline varies, depending on the genetic cause. It is a genetic disorder that is usually hereditary. Nowgen has performed research which identified the information required to evaluate the economic impact of a genetic test for X-linked RP.

About 30 genes are responsible for Retinitis Pigmentosa and there are different patterns of inheritance. There are no curative treatments available. However, support services are available for people with RP. Clinicians can play an active role in the management of people with RP and arrange contact with support services and visual aids. Anecdotal evidence suggests that patients benefit from being told the diagnosis of their condition. There is currently no evidence on the economic impact of introducing a genetic test for X-linked RP. Between 2003 and 2006 a group of patients were referred to St Mary’s Hospital to undergo a genetic test for X-linked RP (a form of RP carried on the X chromosome). The aim of the study was to identify the information required to evaluate the economic impact of a genetic test for X-linked RP.


Katherine Payne, Linda Davies, Graeme Black, Rob Elles, Niki Hart-Holden


Payne K and Thornton J. Interpreting economic evaluations for use in decision making.  Eye News. 2006: 12 (5):18-22.


St Mary’s Hospital

The British Retinitis Pigmentosa Society

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