Clinical and functional findings in choroideremia due to complete deletion of the CHM gene

Archives of Ophthalmology

Volumn 125, Issue 8, 2007, Pages 1107-1113

  Mura, Marco ^a,c   Sereda, Christina ^b   Jablonski, Monica M ^a   MacDonald, Ian M ^b   Iannaccone, Alessandro ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PEPTIDES AND PROTEINS; PROTEIN REP 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHM GENE; CHOROID CAPILLARY LAYER; CHOROIDEREMIA; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DISEASE SEVERITY; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE DELETION; HUMAN; IN VIVO STUDY; MALE; MEDICAL RECORD REVIEW; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PATHOGENESIS; PEDIGREE; PEDIGREE ANALYSIS; PERIMETRY; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA NEUROEPITHELIAL LAYER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CHOROIDEREMIA; DARK ADAPTATION; DNA; ELECTRORETINOGRAPHY; FEMALE; FOLLOW-UP STUDIES; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PERIMETRY; PIGMENT EPITHELIUM OF EYE; POLYMERASE CHAIN REACTION; PROGNOSIS; RAB GTP-BINDING PROTEINS; RETINAL GANGLION CELLS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELDS;

EID: 34547876065     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.8.1107     Document Type: Article

References (37)

1. Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 1990;347(6294):674-677.
2. Lee TK, McTaggart KE, Sieving PA, et al. Clinical diagnoses that overlap with choroideremia. Can J Ophthalmol. 2003;38(5):364-372.
3. Iannaccone A. The genetics of retinal and optic nerve diseases. Comp Ophthalmol Update. 2005;6(1):39-62. http://www.medscape.com/viewarticle/ 501761. Accessed May 23, 2007.
4. Seabra MC, Mules EH, Hume AN. Rab GTPases, intracellular traffic and disease. Trends Mol Med. 2002;8(1):23-30.
5. van Bokhoven H, Schwartz M, Andreasson S, et al. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Hum Mol Genet. 1994;3(7):1047-1051.
6. Ponjavic V, Abrahamson M, Andreasson S, et al. Phenotype variations within a choroideremia family lacking the entire CHM gene. Ophthalmic Genet. 1995;16(4):143-150.
7. Iannaccone A, Man D, Waseem N, et al. Retinitis pigmentosa associated with rhodopsin mutations: correlation between phenotypic variability and molecular effects. Vision Res. 2006;46(27):4556-4567.
8. Marmor MF, Holder GE, Seeliger MW, Yamamoto S. Standard for clinical electroretinography (2004 update). Doc Ophthalmol. 2004;108(2):107-114.
9. Jacobson SG, Voigt WJ, Parel J-M, et al. Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology. 1986;93(12):1604-1611.
10. Apáthy PP, Jacobson SG, Nghiem-Phu L, Knighton RW, Parel J-M. Computeraided analysis in automated dark-adapted static perimetry. In: Greve EL, Heyl A, eds. Seventh International Visual Field Symposium, Amsterdam, September 1986. Dordrecht, the Netherlands: Martinus Nijhoff/Dr W Junk Publishers; 1987:277-284.
11. 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(9):4113-4120.
12. Sieving PA. Evaluation of the X-linked carrier state in choroideremia. In: Heckenlively JR, Arden GB, eds. Principles and Practice of Clinical Electrophysoiology of Vision. St Louis, MO: Mosby Year Book Inc; 1992:744-747.
13. Aleman TS, LaVail MM, Montemayor R, et al. Augmented rod bipolar cell function in partial receptors loss: an ERG study in P23H rhodopsin transgenic and normal rats. Vision Res. 2001;41(21):2779-2797.
14. Schwartz SG, Noble KG, Carr RE. Choroideremia with polydactyly mimicking the Laurence-Moon-Bardet-Biedl syndrome. Retina. 2003;23(3):413-415.
15. 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(4):530-540.
16. Cremers FP, van de Pol DJ, Diergaarde PJ, et al. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics. 1989;4(1):41-46.
17. Rosenberg T, Niebuhr E, Yang HM, Parving A, Schwartz M. Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatr Genet. 1987;8(3):139-143.
18. Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH. 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 U S A. 1987;84(18):6521-6525.
19. Ayazi S. Choroideremia, obesity, and congenital deafness. Am J Ophthalmol. 1981;92(1):63-69.
20. Cheng CK, Chen MS, Hou PK. Choroideremia: a study of two families. J Formos Med Assoc. 1991;90(11):1103-1112.
21. Kurstjens JH. Choroideremia and gyrate atrophy of the choroid and retina. Doc Ophthalmol. 1965;19(1):2-122. doi:10.1007/BF00180759.
22. Arden GB, Hogg CR. A new cause for difficulty in seeing at night. Doc Ophthalmol. 1985;60(2):121-125.
23. Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology. 2001;108(4):711-720.
24. 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(2):386-394.
25. Starr CJ, Kappler JA, Chan DK, Kollmar R, Hudspeth AJ. Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. Proc Natl Acad Sci U S A. 2004;101(8):2572-2577.
26. Perkins BD, Bilotta J. Mutation of the zebrafish choroideremia gene (Rab escort protein 1) causes photoreceptor degeneration and loss of visual function [ARVO e-abstract]. Invest Ophthalmol Vis Sci. 2006;47:4557.
27. Krock BL, Bilotta J, Perkins BD. Non-cell autonomous photoreceptor degeneration in a zebrafish model of choroideremia. Proc Natl Acad Sci U S A. 2007;104(11):4600-4605.
28. Anand V, Barral DC, Zeng Y, et al. Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. Vision Res. 2003;43(8):919-926.
29. Lund RD, Kwan AS, Keegan DJ, Sauve Y, Coffey PJ, Lawrence JM. Cell transplantation as a treatment for retinal disease. Prog Retin Eye Res. 2001;20(4):415-449.
30. Tombran-Tink J, Barnstable CJ. Therapeutic prospects for PEDF: more than a promising angiogenesis inhibitor. Trends Mol Med. 2003;9(6):244-250.
31. 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(5):561-577.
32. Becerra SP. Focus on molecules: pigment epithelium-derived factor (PEDF). Exp Eye Res. 2006;82(5):739-740.
33. Cayouette M, Smith SB, Becerra SP, Gravel C. Pigment epithelium-derived factor delays the death of photoreceptors in mouse models of inherited retinal degenerations. Neurobiol Dis. 1999;6(6):523-532.
34. Jablonski MM, Tombran-Tink J, Mrazek DA, Iannaccone A. Pigment epithelium-derived factor supports normal development of photoreceptor neurons and opsin expression after retinal pigment epithelium removal. J Neurosci. 2000;20(19):7149-7157.
35. Jablonski MM, Tombran-Tink J, Mrazek DA, Iannaccone A. Pigment epithelium-derived factor supports normal Müller cell development and glutamine synthetase expression after removal of the RPE. Glia. 2001;35(1):14-25.
36. Cao W, Tombran-Tink J, Elias R, Sezate S, Mrazek D, McGinnis JF. In vivo protection of photoreceptors from light damage by pigment epithelium-derived factor. Invest Ophthalmol Vis Sci. 2001;42(7):1646-1652.
37. Wang X, Iannaccone A, Jablonski MM. Contribution of Müller cells toward the regulation of photoreceptor outer segment assembly. Neuron Glia Biol. 2005;1:1-6.