Choroideremia: A review of general findings and pathogenesis

REFERENCES

• Prokofyeva E, Wilke R, Lotz G, et al. An epidemiological approach for the estimation of disease onset in Central Europe in central and peripheral monogenic retinal dystrophies. Graefe’s Arch Clin Exp Ophthalmol 2009; 247:885–894.
   Google Scholar
• Roberts MF, Fishman GA, et al. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol 2002;86:658–662.
   PubMed Web of Science ®Google Scholar
• Cremers FP, van de Pol DJ, van Kerkhoff LP, et al. Cloning of a gene that is rearranged in patients with choroideraemia. Nature 1990;347:674–677.
   PubMed Web of Science ®Google Scholar
• van den Hurk JA, Schwartz M, van Bokhoven H, et al. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat 1997;9:110–7.
   PubMed Web of Science ®Google Scholar
• Jacobson SG, Cideciyan AV, Sumaroka A, et al. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci 2006;47:4113–4120.
   PubMed Web of Science ®Google Scholar
• MacDonald IM, Smaoui N, Seabra MC. Choroideremia. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993– February 21, 2003 [updated June 3, 2010].
   Google Scholar
• Maunther H. Ein fall von choroideremie. Ber Naturw med Ver Innsbruck 1872;2:191–197.
   Google Scholar
• Wolff S. Choroideremia. Arch Ophthalmol 1930;3:80–87.
   Google Scholar
• Bedell A. Choroideremia. Arch Ophthalmol 1937;17:444–467.
   Google Scholar
• Rodrigues MM, Ballantine EJ, Wiggert BN, et al. Choroideremia: a clinical, electron microscopic, and biochemical report. Ophthalmology 1984;91:873–883.
   PubMedGoogle Scholar
• Krill AE. Atrophic macular changes with emphasis on hereditary aspects. Trans Ophthalmol Soc U K 1972;92:419–447.
   Google Scholar
• Pameyer JK, Waardenburg PJ, Henkes HE. Choroideremia. Br J Ophthalmol 1960;44:724–738.
   Google Scholar
• Kärnä J. Choroideremia: a clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol Suppl 1986;176:1–68.
   Google Scholar
• Grover S, Alexander KR, Choi DM, Fishman GA. Intraocular light scatter in patients with choroideremia. Ophthalmology 1998;105:1641–1645.
   Google Scholar
• Preising M, Ayuso C. Rab escort protein 1 (REP-1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet 2004;25:101–10.
   PubMedGoogle Scholar
• Kurstjens JH. Choroideremia and gyrate atrophy of the choroid and retina. Doc Ophthalmol 1965;19:1–22.
   Google Scholar
• Noro Y, Yamaguchi K, Tamai M. A case of choroideremia associated with subretinal proliferation. Jap J Clin Ophthalmol 1992;46:962–963.
   Google Scholar
• Robinson D, Tiedeman J. Choroideremia associated with a subretinal neovascular membrane. Retina 1987;7:70–74.
   Google Scholar
• Wakabayashi K, Yoneura D, Kawasaki K, Uyama M. New approach to electrodiagnosis in diseases of the retina choroideremia. Folia Ophthalmol Japan 1984;35:775–779.
   Google Scholar
• O SJ, Kim SH, Lee HY. A case of choroideremia with recurrent anterior uveitis. Korean J Ophthalmol 2003;17:55–62.
   Google Scholar
• Ohba N, Isashiki Y. Clinical and genetic features of choroideremia. Jpn J Ophthalmol 2000;44:317.
   PubMedGoogle Scholar
• Heckenlively JR, Bird AC. Choroideremia. In: Heckenlively JR, editor. Retinitis pigmentosa. New York: J.B. Lippincott Co., 1988; 176–187.
   Google Scholar
• Mura M, Sereda C, Jablonski MM, et al. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol 2007;125:1107–1113.
   PubMedGoogle Scholar
• Preising MN, Wegscheider E, Friedburg C, et al. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. Ophthalmology 2009;116:1201–1209.
   Google Scholar
• Beaufrère L, Rieu S, Hache JC, et al. Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene. Current Eye Res 1998;17:726–729.
   Web of Science ®Google Scholar
• Renner AB, Kellner U, Cropp E, et al. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology 2006;113:2066–2073.
   PubMedGoogle Scholar
• Thobani A, Anastasakis A, Fishman GA. Microperimetry and OCT findings in female carriers of choroideremia. Ophthalmic Genet 2010;31:235–239.
   PubMed Web of Science ®Google Scholar
• Hayakawa M, Fujiki K, Hotta Y, et al. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. Ophthalmic Genet 1999;20:107–115.
   PubMedGoogle Scholar
• Renner AB, Fiebig BS, Cropp E, et al. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. Arch Ophthalmol 2009;127:907–12.
   PubMedGoogle Scholar
• Sieving PA, Niffenegger JH, Berson EL. Electroretinographic findings in selected pedigrees with choroideremia. Am J Ophthalmol 1986;101:361–367.
   PubMedGoogle Scholar
• Vajaranant TS, Fishman GA, Szlyk JP, et al. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing. Ophthalmology 2008;115:723–729.
   Google Scholar
• Pinckers A, van Aarem A, Brink H. The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, senior syndrome and choroideremia. Ophthalmic Genet 1994;15:25–30.
   Web of Science ®Google Scholar
• Yau RJ, Sereda CA, McTaggart KE, et al. Choroideremia carriers maintain a normal electro-oculogram (EOG). Doc Ophthalmol 2007;114:147–151.
   Google Scholar
• van Bokhoven H, van den Hurk JA, Bogerd L, et al. Cloning and characterization of the human choroideremia gene. Hum Mol Genet 1994;3:1041–1046.
   PubMed Web of Science ®Google Scholar
• Corbeel L, Freson K. Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. Eur J Pediatr 2008;167:723–729.
   Google Scholar
• Pereira-Leal JB, Hume AN, Seabra MC. Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease. FEBS Lett 2001;498:197–200.
   PubMed Web of Science ®Google Scholar
• van den Hurk JA, Hendriks W, van de Pol DJ, et al. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet 1997;6:851–858.
   PubMed Web of Science ®Google Scholar
• Shi W, van den Hurk JA, Alamo-Bethencourt V, et al. Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. Dev Biol 2004;272:53–65.
   PubMed Web of Science ®Google Scholar
• Tolmachova T, Anders R, Abrink M, et al. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. J Clin Invest 2006;116:386–394.
   PubMed Web of Science ®Google Scholar
• MacDonald IM, Russell L, Chan CC. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol 2009;54:401–407.
   PubMed Web of Science ®Google Scholar
• Seabra MC, Ho YK, Anant JS. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J Biol Chem 1995;270:24420–24427.
   PubMed Web of Science ®Google Scholar
• Hume AN, Collinson LM, Rapak A, et al. Rab27a regulates the peripheral distribution of melanosomes in melanocytes. J Cell Biol 2001;152:795–808.
   PubMed Web of Science ®Google Scholar
• Bahadoran P, Aberdam E, Mantoux F, et al. Rab27a: A key to melanosome transport in human melanocytes. J Cell Biol 2001;152:843–850.
   PubMed Web of Science ®Google Scholar
• Wilson SM, Yip R, Swing DA, et al. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci USA 2000;97:7933–7938.
   PubMed Web of Science ®Google Scholar
• Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, et al. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet 2000;21:185–189.
   Google Scholar
• Cremers FP, Molloy CM, van de Pol DJ, et al. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Hum Mol Genet 1992;1:71–75.
   PubMedGoogle Scholar
• McCulloch C. A hereditary and clinical study of choroideremia. Trans Am Acad Ophthalmol Otolaryngol 1948;53:160–190.
   Google Scholar
• Poloschek CM, Kloeckener-Gruissem B, Hansen LL, et al. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Invest Ophthalmol Vis Sci 2008;49:4096–4104.
   PubMedGoogle Scholar
• Flannery JG, Bird AC, Farber DB, et al. A histopathologic study of a choroideremia carrier. Inv Ophthalmol Vis Sci 1990;31:229–236.
   Web of Science ®Google Scholar
• Syed N, Smith JE, John SK, et al. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology 2001;108:711–720.
   PubMed Web of Science ®Google Scholar
• McCulloch JC. The pathologic findings in two cases of choroideremia. Trans Am Acad Ophthalmol Otolaryngol 1950;56:565–572.
   Google Scholar
• Young RW, Bok D. Participation of the retinal pigment epithelium in the rod outer segment renewal process. J Cell Biol 1969;42:392–402.
   PubMed Web of Science ®Google Scholar
• LaVail MM, Sidman RL, Gerhardt CO. Congenic strains of RCS rats with inherited retinal dystrophy. J Hered 1975;66:242–244.
   PubMed Web of Science ®Google Scholar
• Dowling JE, Sidman RL. Inherited retinal dystrophy in the rat. J Cell Biol 1962;14:73–109.
   PubMed Web of Science ®Google Scholar
• Starr CJ, Kappler JA, Chan DK, et al. Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. Proc Natl Acad Sci USA 2004;101:2572–2577.
   PubMed Web of Science ®Google Scholar
• Krock BL, Bilotta J, Perkins BD. Non-cell autonomous photoreceptor degeneration in a zebrafish model of choroideremia. Proc Natl Acad Sci USA 2007;104:4600–4605.
   PubMed Web of Science ®Google Scholar
• Cameron JD, Fine BS, Shapiro I. Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract. Ophthalmology 1987;94:187–196.
   Google Scholar
• Rodrigues MM, Ballintine EJ, Wiggert BN, et al. Choroideremia: a clinical, electron microscopic, and biochemical report. Ophthalmology 1984;91:873–883.
   PubMedGoogle Scholar
• Iino Y, Fujimaki T, Fujiki K, Murakami A. A novel mutation (967-970 + 2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings. Jpn J Ophthalmol 2008;52:289–297.
   Google Scholar
• Edwards RB. The use of tissue culture techniques to study normal and diseased retinal pigment epithelium. Prog Ret Res 1983;2:51–66.
   Google Scholar
• Miller SS, Hughes BA, Machen TE. Fluid transport across retinal pigment epithelium is inhibited by cyclic AMP. Proc Natl Acad Sci USA 1982;79:2111–2115.
   Google Scholar
• Ponjavic V, Abrahamson M, Andreasson S, et al. Phenotype variations within a choroideremia family lacking the entire CHM gene. Ophthalmic Genet 1995;16:143–150.
   Web of Science ®Google Scholar
• van den Bosch, J. A new syndrome in three generations of a Dutch family. Ophthalmologica 1959;137:422–423.
   Google Scholar
• Rosenberg T, Schwartz M, Niebuhr E, et al. Choroideremia in interstitial deletion of the X chromosome. Ophthalmic Paediatr Genet 1986;7:205–210.
   PubMed Web of Science ®Google Scholar
• Yntema HG, van den Helm B, Kissing J, et al. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics 1999;62:332–343.
   PubMedGoogle Scholar
• Merry DE, Lesko JG, Sosnoski DM, et al. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 1989;45:530–540.
   PubMed Web of Science ®Google Scholar
• Nussbaum RL, Lesko JG, Lewis RA, et al. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci USA 1987;84:6521–6525.
   Google Scholar
• de Kok YJM, van der Maarel SM, Bitner-Glindzicz M, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 Science 1995;267:685–688.
   Google Scholar
• de Kok YJM, Vossenaar ER, Cremers CWRJ. et al. Identification of a hot spot for microdeletions in patients with X-linked deafness (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet 1996;5:1229–1235.
   PubMedGoogle Scholar
• Ayazi S. Choroideremia, obesity, and congenital deafness. Am J Ophthalmol 1981;92(1):63–69.
   Google Scholar
• Mukkamala K, Gentile RC, Willner J, Tsang S. Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3. Ophthalmic Genet 2010;31:178–182.
   PubMed Web of Science ®Google Scholar
• Valk LE., Binkhorst PG. A case of familial dwarfism, with choroideremia, myopia, posterior polar cataract, and zonular cataract. Ophthalmologica 1956;132:299.
   Google Scholar
• Duncan JL, Aleman TS, Gardner LM, et al. Macular pigment and lutein supplementation in choroideremia. Exp Eye Res 2002;74:371–381.
   PubMed Web of Science ®Google Scholar
• Zhao DY, Wintch SW, Ermakov IV, et al. Resonance Raman measurement of macular carotenoids in retinal, choroidal, and macular dystrophies. Arch Ophthalmol 2003;121:967–972.
   PubMed Web of Science ®Google Scholar
• Anand V, Barral DC, Zeng Y, et al. Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. Vision Res 2003;43:919–926.
   PubMed Web of Science ®Google Scholar
• Lund RD, Kwan AS, Keegan DJ, et al. Cell transplantation as a treatment for retinal disease. Prog Retin Eye Res 2001;20:415–449.
   PubMed Web of Science ®Google Scholar
• Barnstable CJ, Tombran-Tink J. Neuroprotective and antiangiogenic actions of PEDF in the eye: molecular targets and therapeutic potential. Prog Retin Eye Res 2004;23:561–577.
   PubMed Web of Science ®Google Scholar
• Becerra SP. Focus on molecules: pigment epithelium–derived factor (PEDF). Exp Eye Res 2006;82:739–740.
   PubMed Web of Science ®Google Scholar
• Hynes SR, Lavik EB. A tissue-engineered approach towards retinal repair: scaffolds for cell transplantation to the subretinal space. Graefe’s Arch Clin Exp Ophthalmol 2010;248:763–778.
   PubMed Web of Science ®Google Scholar