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.
Reports on choroideremia findings from National Taiwan University, Department of Ophthalmology provide new insights.
Apr 07, 2010; Investigators publish new data in the report 'Blood-aqueous barrier function in a patient with choroideremia.' According...