Choroideremia
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References
Fischer MD, Ochakovski GA, Beier B, Seitz IP, Vaheb Y, Kortuem C, Reichel FFL, Kuehlewein L, Kahle NA, Peters T, Girach A, Zrenner E, Ueffing M, MacLaren RE, Bartz-Schmidt K, Wilhelm B. CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA. Retina. 2018 Oct 9. doi: 10.1097/IAE.0000000000002360. [Epub ahead of print].
Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patricio MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE. Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia. Nat Med. 2018 Oct;24(10):1507-1512.
Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. Graefes Arch Clin Exp Ophthalmol. 2017 Jul 27. doi: 10.1007/s00417-017-3751-5. [Epub ahead of print].
Khan KN, Islam F, Moore AT, Michaelides M. Clinical and Genetic Features of Choroideremia in Childhood. Ophthalmology. 2016 Aug 6. pii: S0161-6420(16)30583-8. doi: 10.1016/j.ophtha.2016.06.051. [Epub ahead of print] PubMed.
Katagiri S, Hayashi T, Gekka T, Tsuneoka H. A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype. Ophthalmic Genet. 2016 Jun 27:1-2.
Jain N, Jia Y, Gao SS, Zhang X, Weleber RG, Huang D, Pennesi ME. Optical
Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris
Loss With Overlying Degeneration. JAMA Ophthalmol. 2016 May 5. doi:
10.1001/jamaophthalmol.2016.0874. [Epub ahead of print].
Maclaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet. 2014 Jan 15. [Epub ahead of print].
Huang AS, Kim LA, Fawzi AA. Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHM Mutation. Arch Ophthalmol. 2012 Sep 1;130(9):1184-9.
Coussa RG, Traboulsi EI. Choroideremia: A review of general findings and pathogenesis. Ophthalmic Genet. 33:57-65, 2011.
Mura M, Sereda C , Jablonski MM, MacDonald IM; Iannaccone A. Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene. Arch Ophthalmol. 2007;125(8):1107-1113.
MacDonald IM, Russell L, Chan CC. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol. 2009 May-Jun;54(3):401-7.
Bonilha VL, Trzupek KM, Li Y, Francis PJ, Hollyfield JG, Rayborn ME, Smaoui N, Weleber RG. Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genet. 2008 Sep;29(3):99-110.