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 REP2s 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 [10] Archived 2015-09-21 at the Wayback Machine, 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 [11], 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 [12], accessed 23 April 2015.
UV-blocking sunglasses for outdoors, appropriate dietary intake of fresh fruit and leafy green vegetables, antioxidant vitamin supplements, and regular intake of dietary omega-3 very-long-chain fatty acids are all recommended. One study found that a dietary supplement of lutein increases macular pigment levels in patients with choroideremia. Over a long period of time, these elevated levels of pigmentation "could" slow retinal degeneration. Additional interventions that may be needed include surgical correction of retinal detachment and cataracts, low vision services, and  counseling to help cope with depression, loss of independence, and anxiety over job loss. Gene therapy
Gene therapy is currently not a treatment option, however human clinical trials for both choroideremia and Lebers congenital amaurosis (LCA) have produced somewhat promising results.Clinical trials of gene therapy for patients with LCA began in 2008 at three different sites. In general, these studies found the therapy to be safe, somewhat effective, and promising as a future treatment for similar retinal diseases. In 2011, the first gene therapy treatment for choroideremia was administered. The surgery was performed by Robert MacLaren, Professor of Ophthalmology at the University of Oxford and leader of the Clinical Ophthalmology Research Group at the Nuffield Laboratory of Ophthalmology (NLO). In the study, 2 doses of the AAV.REP1 vector were injected subretinally in 12 patients with choroideremia.