Functional Defects in Color Vision in Patients with Choroideremia

American Journal of Ophthalmology

Volumn 160, Issue 4, 2015, Pages 822-831.e3

  Jolly, Jasleen K ^a,b,c   Groppe, Markus ^a,b   Birks, Jacqueline ^a   Downes, Susan M ^a   MacLaren, Robert E ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHOROIDEREMIA; CLINICAL ARTICLE; COLOR VISION DEFECT; COLOR VISION TEST; CONTROLLED STUDY; HUMAN; PRIORITY JOURNAL; PROSPECTIVE STUDY; VISUAL ACUITY; COLOR VISION; GENETICS; MALE; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY; YOUNG ADULT;

CHM PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CHOROIDEREMIA; COLOR PERCEPTION TESTS; COLOR VISION; COLOR VISION DEFECTS; HUMANS; MALE; MIDDLE AGED; MUTATION; VISUAL ACUITY; YOUNG ADULT;

EID: 84941414703     PISSN: 00029394     EISSN: 18791891     Source Type: Journal    
DOI: 10.1016/j.ajo.2015.06.018     Document Type: Article

References (28)

1. I.M. MacDonald, D.Y. Mah, Y.K. Ho, R.A. Lewis, and M.C. Seabra A practical diagnostic test for choroideremia Ophthalmology 105 9 1998 1637 1640
2. I.M. MacDonald, L. Russell, and C.C. Chan Choroideremia: new findings from ocular pathology and review of recent literature Surv Ophthalmol 54 3 2009 401 407
3. G. Rudolph, M. Preising, P. Kalpadakis, C. Haritoglou, G.E. Lang, and B. Lorenz Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene Ophthalmic Genet 24 4 2003 203 214
4. A.N. Hume, L.M. Collinson, A. Rapak, A.Q. Gomes, C.R. Hopkins, and M.C. Seabra Rab27a regulates the peripheral distribution of melanosomes in melanocytes J Cell Biol 152 4 2001 795 808
5. T. Tolmachova, S.T. Wavre-Shapton, A.R. Barnard, R.E. MacLaren, C.E. Futter, and M.C. Seabra Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia Invest Ophthalmol Vis Sci 51 10 2010 4913 4920
6. N. Syed, J.E. Smith, S.K. John, M.C. Seabra, G.D. Aquirre, and A.H. Milam Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia Ophthalmology 108 4 2001 711 720
7. S.G. Jacobson, A.V. Cideciyan, A. Sumaroka, and et al. Remodeling of the human retina in choroideremia: Rab escort protein 1 (REP-1) mutations Invest Ophthalmol Vis Sci 47 9 2006 4113 4120
8. M.N. Preising, E. Wegscheider, C. Friedburg, C.M. Poloschek, B.K. Wabbels, and B. Lorenz Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data Ophthalmology 116 6 2009 1201 1209
9. J. Birch Diagnosis of Defective Color Vision 2001 Reed Berwick upon Tweed 1 406
10. J. Kärnä Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers Acta Ophthalmol 176 suppl 1986 1 68
11. P.R. Kinnear, and A. Sahraie New Farnsworth-Munsell 100 hue test norms of normal observers for each year of age 5-22 and for age decades 30-70 Br J Ophthalmol 86 12 2002 1408 1411
12. R. Lakowski Theory and practice of color vision testing: a review. 1 Br J Ind Med 26 3 1969 173 189
13. A.M. Dubis, B.R. Hansen, R.F. Cooper, J. Beringer, A. Dubra, and J. Carroll Relationship between the foveal avascular zone and foveal pit morphology Invest Ophthalmol Vis Sci 53 3 2012 1628 1636
14. A. Roorda, and D.R. Williams The arrangement of the three cone classes in the living human eye Nature 397 6719 1999 520 522
15. A. Sorsby, A. Franceschetti, R. Joseph, and J.B. Davey Choroideremia; clinical and genetic aspects Br J Ophthalmol 36 10 1952 547 581
16. M. Hayakawa, K. Fujiki, Y. Hotta, and et al. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients Ophthalmic Genet 20 2 1999 107 115
17. A.B. Renner, U. Kellner, E. Cropp, and et al. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram Ophthalmology 113 11 2006 2066.e1 2066.e10
18. W. Jaeger, and P. Gruetzner [Decline of function in progressive tapetochoroidal degeneration (choroideremia)] Ophthalmologica 143 1962 305 311
19. J.H. Kurstjens Choroideremia and gyrate atrophy of the choroid and retina Doc Ophthalmol 19 1 1965 2 122
20. C. McCulloch Choroideremia: a clinical and pathologic review Trans Am Ophthalmol Soc 67 1969 142 195
21. W. Hammerstein, G. Bischof, and E. Leide [Choroideremie in childhood] Klin Monbl Augenheikd 174 4 1979 599 604
22. R. Lakowski Theory and practice of color vision testing: a review: 2 Br J Ind Med 26 4 1969 265 288
23. A. Von Rückmann, F.W. Fitzke, and A.C. Bird Distribution of fundus autofluorescence with a scanning laser ophthalmoscope Br J Ophthalmol 79 5 1995 407 412
24. A. Syed, S.M. Sundquist, K. Ratnam, and et al. High-resolution images of retinal structure in patients with choroideremia Invest Ophthalmol Vis Sci 54 2 2013 950 961
25. J.I.W. Morgan, G. Han, E. Klinman, and et al. High-resolution adaptive optics retinal imaging of cellular structure in choroideremia Invest Ophthalmol Vis Sci 55 10 2014 6381 6397
26. N.V. Gordiyenko, R.N. Fariss, C. Zhi, and I.M. MacDonald Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium Invest Ophthalmol Vis Sci 51 2 2010 1143 1150
27. S. Mohand-Said, D. Hicks, T. Léveillard, S. Picaud, F. Porto, and J.A. Sahel Rod-cone interactions: developmental and clinical significance Prog Retin Eye Res 20 4 2001 451 467
28. E.T. Camacho, and S. Wirkus Tracing the progression of retinitis pigmentosa via photoreceptor interactions J Theor Biol 317 2013 105 118