Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Nightblindness begins in youth and blindness occurs by middle age. Choroideremia is caused by the deletion of the Rab escort protein 1 (REP1). Rab escort protein 2 (REP2) is 75% identical and can almost compensate for the loss of REP1. The REPs are essential for the prenylation of Rab proteins. Studies have shown that there is a build up of unprenylated Rab27 in lymphoblasts from Choroideremia patients.

The link between the loss of REP1 and the build up of unprenylated Rab27 and the degeneration of the eye is unknown as yet.

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Diseases | Ophthalmology