Choroideremia: Effect of age on visual acuity in patients and female carriers

Ophthalmic Genetics

Volumn 33, Issue 2, 2012, Pages 66-73

  Coussa, Razek Georges ^a   Kim, James ^b   Traboulsi, Elias I ^b  

^a MCGILL UNIVERSITY   (Canada)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Affected carriers; Choroideremia; Visual acuity loss

Indexed keywords

ADULT; AGE DISTRIBUTION; ARTICLE; CHOROIDEREMIA; COMPARATIVE STUDY; CORRELATIONAL STUDY; CROSS-SECTIONAL STUDY; DISEASE CARRIER; DISEASE COURSE; FEMALE; HAND MOVEMENT; HUMAN; INCIDENCE; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEX DIFFERENCE; VISUAL ACUITY;

ADOLESCENT; ADULT; AGING; CHILD; CHOROIDEREMIA; CROSS-SECTIONAL STUDIES; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; TIME FACTORS; VISUAL ACUITY; YOUNG ADULT;

EID: 84863450060     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.623261     Document Type: Article

References (32)

1. 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
2. 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: 110-117
3. 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;347:674-677
4. 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
5. Roberts MF, Fishman GA, Roberts DK, Heckenlively JR, Weleber RG, Anderson RJ, Grover S. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol 2002;86:658-662
6. Rodrigues MM, Ballintine EJ, Wiggert BN, Lee L, Fletcher RT, Chader GJ. Choroideremia: A clinical, electron microscopic, and biochemical report. Ophthalmology 1984;91:873-883
7. MacDonald IM, Smaoui N, Seabra MC. Choroideremia. GeneReviews 2010. (http://www.ncbi.nlm.nih.gov/books/ NBK1337/
8. Ohba N, Isashiki Y. Clinical and genetic features of choroideremia. Jpn J Ophthalmol 2000;44:317
9. Krill AE. Hereditary retinal and choroidal diseases, vol. 2, clinical characteristics. Hagerstown, MD: Harper and Row, 1977:1013-1041
10. Kim J. Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol 1986;176:1-68
11. O SJ, Kim SH, Lee HY. A case of choroideremia with recurrent anterior uveitis. Korean J Ophthalmol 2003;17: 55-62
12. Woods RL, Giorgi RG, Berson EL, Peli E. Extended wearing trial of Trifield lens device for ?tunnel vision?. Ophthalmic Physiol Opt 2010;30:240-252
13. Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U. 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;127:907-912
14. Vajaranant TS, Fishman GA, Szlyk JP, Grant-Jordan P, Lindeman M, Seiple W. Detection of mosaic retinal dysfunction in choroideremia carriers: Electroretinographic and psychophysical testing. Ophthalmology 2008;115: 723-729
15. Sandberg MA, Gaudio AR. Reading speed of patients with advanced retinitis pigmentosa or choroideremia. Retina 2006;26:80-88
16. Endo K, Yuzawa M, Ohba N. Choroideremia associated with subretinal neovascular membrane. Acta Ophthalmol Scand 2000;78:483-486
17. Hirakawa H, Iijima H, Gohdo T, Imai M, Tsukahara S. Progression of defects in the central 10-degree visual field of patients with retinitis pigmentosa and choroideremia. Am J Ophthalmol 1999;127:436-442
18. Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology 2006;113:2066.e1-10
19. Ayazi S. Choroideremia, obesity, and congenital deafness. Am J Ophthalmol 1981;92:63-69
20. Fulton AB, Hansen RM. The relation of rhodopsin and scotopic sensitivity in choroideremia. Am J Ophthalmol 1987;15;104:524-532
21. Rusin MM, Fishman GA, Larson JA, Gilbert LD. Vitreous fluorophotometry in carriers of choroideremia and X-linked retinitis pigmentosa. Arch Ophthalmol 1989;107: 209-212
22. Grover S, Alexander KR, Choi DM, Fishman GA. Intraocular light scatter in patients with choroideremia. Ophthalmology 1998;105:1641-1645
23. Majid MA, Horsborough B, Gray RH. Unusual macular findings in a known choroideremia carrier. Eye (Lond) 1998;12:740-741
24. Robinson D, Tiedeman J. Choroideremia associated with a subretinal neovascular membrane. Case report. Retina 1987;7:70-74
25. Sieving PA, Niffenegger JH, Berson EL. Electroretinographic findings in selected pedigrees with choroideremia. Am J Ophthalmol 1986;101:361-367
26. Harris GS, Miller JR. Choroideremia. Visual defects in a heterozygote. Arch Ophthalmol 1968;80:423-429
27. Flannery JG, Bird AC, Farber DB, Weleber RG, Bok D. A histopathologic study of a choroideremia carrier. Invest Ophthalmol Vis Sci 1990;31:229-236
28. Cameron JD, Fine BS, Shapiro I. Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract. Ophthalmology 1987;94: 187-196
29. Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. Ophthalmology 2009;116:1201-1209
30. Thobani A, Anastasakis A, Fishman GA. Microperimetry and OCT findings in female carriers of choroideremia. Ophthalmic Genet 2010;31:235-239
31. Yau RJ, Sereda CA, McTaggart KE, Sauv?Y, MacDonald IM. Choroideremia carriers maintain a normal electro- oculogram (EOG). Doc Ophthalmol 2007;114: 147-151
32. Potter MJ, Wong E, Szabo SM, McTaggart KE. Clinical findings in a carrier of a new mutation in the choroideremia gene. Ophthalmology 2004;111:1905-1909