found crystals and fatty acid abnormalities in leukocytes). REP2, a protein that is 75% identical and 90% similar to REP1, is able to significantly compensate for the loss of REP1 outside the eye. It is thought that REP2 is not able to fully compensate for the loss of REP1 in the retina. RAB27A, a Rab that has essential functions in the retina, has been shown to be preferentially prenylated by REP1. Additionally, the Rab27a-REP1 and Rab27a-REP2 complexes have different affinities for the Rab geranylgeranyltransferase enzyme, possibly explaining REP2's inability to fully compensate for REP1 in the retina. Culture A number of individuals in public roles are living with choroidermia, and some have been involved in fundraising efforts for the disease. The former UK Labour Member of Parliament Siôn Simon is a known to have the condition. Comic and activist E.J. Scott, partner of Daredevil actress Deborah Ann Woll, also has choroideremia, and is involved in regular fundraising efforts. References Further reading Danny Boren, 2015, "First U.S. Gene Therapy Clinical Trial to treat Choroideremia initiated in Philadelphia," Choroideremia Research Foundation (online), Press Release Summary, January 20, 2015, see , accessed 23 April 2015. Cory MacDonald, 2015, "Nightstar Receives U.S. and European Orphan Drug Designation for Gene Therapy to Treat Choroideremia," Choroideremia Research Foundation (online), Press Release Summary, March 24, 2015 (release date, January 11), see , accessed 23 April 2015. FFB, 2015, "U.S. Human Study for Choroideremia Gene Therapy Launched by Spark Therapeutics," Foundation Fighting Blindness (online), January 27, 2015, see , accessed 23 April 2015. NLO, 2014, "First Results of Choroideremia Gene Therapy Trial (2014)," Nuffield Laboratory of Ophthalmology (online), Press Release, undated, see , accessed 23 April 2015. External links Genetic testing for Choroideremia. Choroideremia Research Foundation is an international not-for-profit organization dedicated to supporting the Choroideremia community Genetic diseases and disorders Disorders of choroid and retina