A pharmacogenetic exploration of vigabatrin-induced visual field constriction

Epilepsy Research

Volumn 70, Issue 2-3, 2006, Pages 144-152

  Kinirons, Peter ^a   Cavalleri, Gianpiero L ^b   Singh, Rinki ^c   Shahwan, Amre ^a   Acheson, James F ^d   Wood, Nicholas W ^c   Goldstein, David B ^b   Sisodiya, Sanjay M ^c   Doherty, Colin P ^a   Delanty, Norman ^a  

^a ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^b DUKE UNIVERSITY   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Pharmacogenetic; Vigabatrin; Visual field defects

Indexed keywords

AMINO ACID TRANSPORTER; PROTEIN ABAT; PROTEIN GABRR1; PROTEIN GABRR2; PROTEIN SLC9A11; PROTEIN SLC9A13; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG; VESICULAR INHIBITORY AMINO ACID TRANSPORTER; VIGABATRIN;

ADULT; ANAMNESIS; ARTICLE; CALCULATION; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DATA ANALYSIS; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; EPILEPSY; FALSE POSITIVE RESULT; FEMALE; GENETIC VARIABILITY; HAPLOTYPE; HEALTH CENTER; HUMAN; MAJOR CLINICAL STUDY; MALE; PATIENT REFERRAL; PERIMETRY; PHARMACOGENETICS; PRIORITY JOURNAL; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL FIELD; VISUAL FIELD DEFECT;

4-AMINOBUTYRATE TRANSAMINASE; ADULT; ANTICONVULSANTS; COHORT STUDIES; EPILEPSY; FALSE POSITIVE REACTIONS; FEMALE; GABA PLASMA MEMBRANE TRANSPORT PROTEINS; GENETIC VARIATION; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, GABA; VARIATION (GENETICS); VIGABATRIN; VISUAL FIELDS;

EID: 33746873754     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2006.03.012     Document Type: Article

References (38)

1. Ahmadi K.R., Weale M.E., Xue Z.Y., Soranzo N., Yarnall D.P., Briley J.D., et al. A single-nucleotide polymorphism tagging set for human drug metabolism and transport. Nat. Genet. 37 (2005) 84-89
2. Altshuler D., Brooks L.D., Chakravarti A., Collins F.S., Daly M.J., Donnelly P., and International HapMap Consortium. A haplotype map of the human genome. Nature 437 7063 (2005) 1299-1320
3. Ben-Menachem E. Vigabatrin. Epilepsia 36 Suppl. 2 (1995) S95-S104
4. Chebib M. GABAC receptor ion channels. Clin. Exp. Pharmacol. Physiol. 31 (2004) 800-804
5. Eke T., Talbot J.F., and Lawden M.C. Severe persistent visual field constriction associated with vigabatrin. BMJ 314 (1997) 180-181
6. Fledelius H.C. Vigabatrin-associated visual field constriction in a longitudinal series. Acta Ophthalmol. Scand. 81 (2003) 41-46
7. Goodchild M., and Neal M.J. The uptake of 3Hp-aminobutyric acid by the retina. Br. J. Pharmacol. 47 (1973) 529-542
8. Hardus P., Verduin W., Berendschot T., Postma G., Stilma J., and van Veelen C. Vigabatrin: longterm follow-up of electrophysiology and visual field examinations. Acta Ophthalmol. Scand. 81 (2003) 459-465
9. Hisama F.M., Mattson R.H., Lee H.H., Felice K., and Petroff O.A. GABA and the ornithine delta-aminotransferase gene in Vigabatrin-associated visual field defects. Seizure 10 (2001) 505-507
10. Iyer L., Hall D., Das S., Mortell M.A., Ramirez J., Kim S., et al. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin. Pharm. Ther. 65 (1999) 576-582
11. Johnson M.A., Krauss G.L., Miller N.R., Medura M., and Paul S.R. Visual function loss from vigabatrin: effect of stopping the drug. Neurology 55 (2000) 40-45
12. Krauss G.L., Johnson M.A., and Miller N.R. Vigabatrin-associated retinal cone system dysfunction: electroretinogram and ophthalmologic findings. Neurology 50 (1998) 614-618
13. Kinirons P., Cavalleri G.L., Rourke D.O., Doherty C.P., Reid I., Logan P., Liggan B., and Delanty N. Vigabatrin retinopathy in an Irish cohort-lack of correlation with dose. Epilepsia 47 (2006) 311-317
14. Krakow K., Polizzi G., Riordan-Eva P., Holder G., MacLeod W.N., and Fish D.R. Recovery of visual field constriction following discontinuation of vigabatrin. Seizure 9 (2000) 287-290
15. Lux A.L., Edwards S.W., Hancock E., Johnson A.L., Kennedy C.R., Newton R.W., O'Callaghan F.J., Verity C.M., Osborne J.P., and United Kingdom Infantile Spasms Study. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial. Lancet Neurol. 4 11 (2005 Nov) 712-717
16. Mackay M., Weiss S., and Snead III O.C. Treatment of infantile spasms: an evidence-based approach. Int. Rev. Neurobiol. 49 (2002) 157-184
17. Malmgren K., Ben-Menachem E., and Frisen L. Vigabatrin visual toxicity: evolution and dose dependence. Epilepsia 42 (2001) 609-615
18. Manuchehri K., Goodman S., Siviter L., and Nightingale S. A controlled study of vigabatrin and visual abnormalities. Br. J. Ophthalmol. 84 (2000) 499-505
19. McDonagh J., Stephen L.J., Dolan F.M., Parks S., Dutton G.N., Kelly K., et al. Peripheral retinal dysfunction in patients taking vigabatrin. Neurology 61 (2003) 1690-1694
20. Milano G., and McLeod H.L. Can dihydropyrimidine dehydrogenase impact 5-flurouracil-based treatment?. Eur. J. Cancer 36 (2000) 37-42
21. Newman W.D., Tocher K., and Acheson J.F. Vigabatrin associated visual field loss: a clinical audit to study prevalence, drug history and effects of drug withdrawal. Eye 16 (2002) 567-571
22. Nicolson A., Leach J.P., Chadwick D.W., and Smith D.F. The legacy of vigabatrin in a regional epilepsy clinic. J. Neurol. Neurosurg. Psychiatry 73 (2002) 327-329
23. Nousiainen I., Mantyjarvi M., and Kalviainen R. No reversion in vigabatrin-associatedvisual field defects. Neurology 57 (2001) 1916-1917
24. Pow D.V., Baldridge W., and Crook D.K. Activity-dependent transport of GABA analogues into specific cell types demonstrated at high resolution using a novel immunocytochemical strategy. Neuroscience 73 (1996) 1129-1143
25. R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria, 2004.
26. Relling M.V., Hancock M.L., Rivera G.K., Sandlund J.T., Ribeiro R.C., Krynetski E.Y., et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J. Natl. Cancer Inst. 91 (1999) 2001-2008
27. Ross D.F., Fishman G.A., Gilbert L.D., and Anderson R.J. Variability of visual field measurements in normal subjects and patients with retinitis pigmentosa. Arch. Ophthalmol. 102 (1984) 1004-1010
28. Ruiz A., Borrego S., Marcos I., and Antinolo G. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am. J. Hum. Genet. 62 (1998) 1452-1459
29. Schaid D.J., Rowland C.M., Tines D.E., Jacobson R.M., and Poland G.A. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am. J. Hum. Genet. 70 (2002) 425-434
30. Schmitz B., Schmidt T., Jokiel B., Pfeiffer S., Tiel-Wilck K., and Ruther K. Visual field constriction in epilepsy patients treated with vigabatrin and other antiepileptic drugs: a prospective study. J. Neurol. 249 (2002) 469-475
31. Sills G.J., Patsalos P.N., Butler E., Forrest G., Ratnaraj N., and Brodie M.J. Visual field constriction: accumulation of vigabatrin but not tiagabine in the retina. Neurology 57 (2001) 196-200
32. Sills G.J., Butler E., Forrest G., Ratnaraj N., Patsalos P.N., and Brodie M.J. Vigabatrin, but not gabapentin or topiramate, produces concentration-related effects on enzymes and intermediates of the GABA shunt in rat brain and retina. Epilepsia 44 (2003) 886-892
33. Staley K.J., Soldo B.L., and Proctor W.R. Ionic mechanisms of neuronal excitation by inhibitory GABAA receptors. Science 269 (1995) 977-981
34. Takanaga H., Ohtsuki S., Hosoya Ki, and Terasaki T. GAT2/BGT-1 as a system responsible for the transport of gamma-aminobutyric acid at the mouse blood-brain barrier. J. Cereb. Blood Flow Metab. 21 (2001) 1232-1239
35. van der Torren K., Graniewski-Wijnands H.S., and Polak B.C. Visual field and electrophysiological abnormalities due to vigabatrin. Doc. Ophthalmol. 104 (2002) 181-188
36. Versino M., and Veggiotti P. Reversibility of vigabratin induced visual-field defect. Lancet 354 (1999) 486
37. Weinshilboum R.M., and Sladek S.L. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am. J. Hum. Genet. 32 (1980) 651-662
38. Wu Y., Wang W., and Richerson G.B. Vigabatrin induces tonic inhibition via GABA transporter reversal without increasing vesicular GABA release. J. Neurophysiol. 89 (2003) 2021-2034