Clinical findings in a carrier of a new mutation in the choroideremia gene

Ophthalmology

Volumn 111, Issue 10, 2004, Pages 1905-1909

  Potter, Michael J ^a   Wong, Edward ^b   Szabo, Shelagh M ^a   McTaggart, Kerry E ^c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CENTRAL SCOTOMA; CHOROIDEREMIA; COLOR VISION TEST; COMPUTER ASSISTED TOMOGRAPHY; DARK ADAPTATION; DNA DETERMINATION; ELECTRORETINOGRAPHY; EYE FUNDUS; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENE MUTATION; HETEROZYGOTE; HUMAN; INTERVIEW; INTRON; NIGHT BLINDNESS; OCULAR FIBROSIS; PERIMETRY; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA HEMORRHAGE; RETINA MACULA CYSTOID EDEMA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SUBRETINAL NEOVASCULARIZATION; VISUAL ACUITY; VISUAL FIELD;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ALKYL AND ARYL TRANSFERASES; CHOROIDEREMIA; DARK ADAPTATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HETEROZYGOTE; HUMANS; MUTATION; RETINAL DEGENERATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; VISUAL ACUITY;

EID: 4744356755     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2004.04.028     Document Type: Article

References (31)

1. Rafuse E.V., McCulloch C. Choroideremia a pathological report. Can J Ophthalmol. 3:1968;347-352
2. Ghosh M., McCulloch J.C. Pathological findings from two cases of choroideremia. Can J Ophthalmol. 15:1980;147-153
3. Cameron J.D., Fine B.S., Shapiro I. Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract. Ophthalmology. 94:1987;187-196
4. Forsius H., Hyvärinen L., Nieminen H., Flower R. Fluorescence and indocyanine green fluorescein angiography in study of affected males and in female carriers with choroidermia a preliminary report. Acta Ophthalmol (Copenh). 55:1977;459-470
5. McCulloch C., McCulloch R.J.P. A hereditary and clinical study of choroideremia. Trans Am Acad Ophthal Otolaryngol. 52:1948;160-190
6. Roberts M.F., Fishman G.A., Roberts D.K., et al. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol. 86:2002;658-662
7. Rubin M.L., Fishman R.S., McKay R.A. Choroideremia study of a family and literature review. Arch Ophthalmol. 76:1966;563-574
8. Seabra M.C., Brown M.S., Goldstein J.L. Retinal degeneration in choroideremia deficiency of Rab geranylgeranyl transferase. Science. 259:1993;377-381
9. Seabra M.C., Brown M.S., Slaughter C.A., et al. Purification of component A of Rab geranylgeranyl transferase possible identity with the choroideremia gene product. Cell. 70:1992;1049-1057
10. Seabra M.C., Ho Y.K., Anant J.S. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J Biol Chem. 270:1995;24420-24427
11. MacDonald I.M., Mah D.Y., Ho Y.K., et al. A practical diagnostic test for choroideremia. Ophthalmology. 105:1998;1637-1640
12. McTaggart K.E., Tran M., Mah D.Y., et al. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 20:2002;189-196
13. Cremers F.P.M., van de Pol D.J.R., van Kerkhoff L.P.M., et al. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 347:1990;674-677
14. Merry D.E., Jänne P.A., Landers J.E., et al. Isolation of a candidate gene for choroideremia. Proc Natl Acad Sci U S A. 89:1992;2135-2139
15. François J. Heredity of the choroidal dystrophies. Adv Ophthalmol. 35:1978;1-25
16. Lyon M.F. Gene action in the X-chromosome of the mouse (Mus musculus L. ). Nature. 190:1961;372-373
17. Endo K., Yuzawa M., Ohba N. Choroideremia associated with subretinal neovascular membrane. Acta Ophthalmol Scand. 78:2000;483-486
18. Majid M.A., Horsborough B., Gray R.H. Unusual macular findings in a known choroideremia carrier [letter]. Eye. 12:1998;740-741
19. Robinson D., Tiedeman J. Choroideremia associated with a subretinal neovascular membrane case report. Retina. 7:1987;70-74
20. Verteporfin Roundtable 2000 and 2001 Participants, Treatment of Age-Related Macular Degeneration with Photodynamic Therapy (TAP) Study Group Principal Investigators, Verteporfin in Photodynamic Therapy (VIP) Study Group Principal Investigators. Guidelines for using verteporfin (Visudyne) in photodynamic therapy to treat choroidal neovascularization due to age-related macular degeneration and other causes. Retina. 22:2002;6-18
21. Treatment of Age-Related Macular Degeneration with Photodynamic Therapy (TAP) Study Group. Photodynamic therapy of subfoveal choroidal neovascularization in age-related macular degeneration with verteporfin. One-year results of 2 randomized clinical trials - TAP Report 1. Arch Ophthalmol. 117:1999;1329-1345
22. Marano F., Deutman A.F., Leys A., Aandekerk A.L. Hereditary retinal dystrophies and choroidal neovascularization. Graefes Arch Clin Exp Ophthalmol. 238:2000;760-764
23. Cremers F.P.M., Sankila E.M., Brunsmann F., et al. Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. Am J Hum Genet. 47:1990;622-628
24. van den Hurk J.A.J.M., van de Pol T.J.R., Molloy C.M., et al. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. Am J Hum Genet. 50:1992;1195-1202
25. Hayakawa M., Fujiki K., Hotta Y., et al. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. Ophthalmic Genet. 20:1999;107-115
26. Merry D.E., Lesko J.G., Siu V., et al. DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X;13 translocation. Genomics. 6:1990;609-615
27. van den Hurk J.A.J.M., Schwartz M., van Bokhoven H., et al. Molecular basis of choroideremia (CHM) mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat. 9:1997;110-117
28. Sankila E.M., Tolvanen R., van den Hurk J.A.J.M., et al. Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet. 1:1992;109-113
29. Schwartz M., Rosenberg T., van den Hurk J.A.J.M., et al. Identification of mutations in Danish choroideremia families. Hum Mutat. 2:1993;43-47
30. Donnelly P., Menet H., Fouanon C., et al. Missence mutation in the choroideremia gene. Hum Mol Genet. 3:1994;1017
31. Cheng T.C., Orkin S.H., Antonarakis S.E., et al. Beta-thalassemia in Chinese use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A. 81:1984;2821-2825