Multimodal assessment of choroideremia patients defines pre-treatment characteristics

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 253, Issue 12, 2015, Pages 2143-2150

  Seitz, Immanuel P ^a,b   Zhour, Ahmad ^a   Kohl, Susanne ^b   Llavona, Pablo ^b   Peter, Tobias ^a   Wilhelm, Barbara ^a   Zrenner, Eberhart ^a,b   Ueffing, Marius ^b   Bartz Schmidt, Karl Ulrich ^a   Fischer, M Dominik ^a,c,d,e  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d OXFORD EYE HOSPITAL   (United Kingdom)

^e MERTON COLLEGE   (United Kingdom)

Author keywords

Autofluorescence; Choroideremia; Gene therapy; Symmetry

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE; CHOROIDEREMIA; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; DISEASE COURSE; EYE REFRACTION; HUMAN; INTRAOCULAR PRESSURE; MIDDLE AGED; PERIMETRY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; REFRACTION ERROR; RETINAL THICKNESS; RETROSPECTIVE STUDY; TONOMETRY; VISUAL ACUITY; VISUAL FIELD; ADOLESCENT; CHILD; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE THERAPY; GENETICS; MALE; MULTIMODAL IMAGING; MUTATION; PHYSIOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

CHM PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHOROIDEREMIA; CROSS-SECTIONAL STUDIES; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENETIC THERAPY; HUMANS; MALE; MIDDLE AGED; MULTIMODAL IMAGING; MUTATION; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 84947611876     PISSN: 0721832X     EISSN: 1435702X     Source Type: Journal    
DOI: 10.1007/s00417-015-2976-4     Document Type: Article

References (22)

1. Mauthner L (1872) Ein Fall von Chorioideremie. Bericht des Naturwissenschaftlich-Medizinischen Vereins Innsbruck:191–197
2. Cremers FP, Brunsmann F, van de Pol TJ, Pawlowitzki IH, Paulsen K, Wieringa B, Ropers HH (1987) Deletion of the DXS165 locus in patients with classical choroideremia. Clin Genet 32:421–423
3. Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH (1989) Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41–46
4. Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH (1989) Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. Proc Natl Acad Sci U S A 86:7510–7514
5. Cremers FP, Sankila EM, Brunsmann F, Jay M, Jay B, Wright A, Pinckers AJ, Schwartz M, van de Pol DJ, Wieringa B et al (1990) Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. Am J Hum Genet 47:622–628
6. Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH (1992) 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 1:71–75
7. Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (1994) REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem 269:2111–2117
8. Coussa RG, Traboulsi EI (2012) Choroideremia: a review of general findings and pathogenesis. Ophthalmic Genet 33:57–65
9. Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody RS, Alexandrov K (2004) Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell 117:749–760
10. Moosajee M, Ramsden SC, Black GC, Seabra MC, Webster AR (2014) Clinical utility gene card for: choroideremia. Eur J Hum Genet 22(4)
11. Wavre-Shapton ST, Tolmachova T, Lopes da Silva M, Futter CE, Seabra MC (2013) Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium. PLoS One 8:e57769
12. Tolmachova T, Tolmachov OE, Barnard AR, de Silva SR, Lipinski DM, Walker NJ, Maclaren RE, Seabra MC (2013) Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo. J Mol Med 91:825–837
13. MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC (2014) Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet 383:1129–1137
14. Furgoch MJ, Mewes-Ares J, Radziwon A, Macdonald IM (2014) Molecular genetic diagnostic techniques in choroideremia. Mol Vis 20:535–544
15. Fischer MD, Fleischhauer JC, Gillies MC, Sutter FK, Helbig H, Barthelmes D (2008) A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography. Invest Ophthalmol Vis Sci 49:3617–3621
16. Wiethoff S, Zhour A, Schols L, Fischer MD (2012) Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes. BMC Neurol 12:143
17. Fischer MD, Willmann G, Schatz A, Schommer K, Zhour A, Zrenner E, Bartz-Schmidt KU, Gekeler F (2012) Structural and functional changes of the human macula during acute exposure to high altitude. PLoS One 7:e36155
18. Bellmann C, Rubin GS, Kabanarou SA, Bird AC, Fitzke FW (2003) Fundus autofluorescence imaging compared with different confocal scanning laser ophthalmoscopes. Br J Ophthalmol 87:1381–1386
19. Holladay JT (1997) Proper method for calculating average visual acuity. J Refract Surg 13(4):388–391
20. Coussa RG, Kim J, Traboulsi EI (2012) Choroideremia: effect of age on visual acuity in patients and female carriers. Ophthalmic Genet 33:66–73
21. Roberts MF, Fishman GA, Roberts DK, Heckenlively JR, Weleber RG, Anderson RJ, Grover S (2002) Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol 86:658–662
22. Bittner AK (2011) Variability in vision and photopsias in retinitis pigmentosa are related to disease severity and psychosocial factors. Dissertation. The Johns Hopkins University