A genetic perspective on myopia

Cellular and Molecular Life Sciences

Volumn 62, Issue 7-8, 2005, Pages 800-808

  Jacobi, F K ^a   Zrenner, E ^a   Broghammer, M ^b   Pusch, C M ^b  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b Institute of Anthropology and Human Genetics   (Germany)

Author keywords

Animal models; Candidate genes; Linkage analysis; Myopia; Quantitative traits

Indexed keywords

CYTOKINE; NEUROTRANSMITTER; RNA; TRANSCRIPTION FACTOR;

ALBINISM; CHOROIDEREMIA; COLOBOMA; COLOR BLINDNESS; DE LANGE SYNDROME; DISEASE ASSOCIATION; DNA MICROARRAY; DOWN SYNDROME; EHLERS DANLOS SYNDROME; EXTRACELLULAR MATRIX; EYE DEVELOPMENT; FABRY DISEASE; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; GENETICS; GENOTYPE; HOMOCYSTINURIA; HUMAN; MARFAN SYNDROME; MYOPIA; NOONAN SYNDROME; PATHOPHYSIOLOGY; PROTEIN EXPRESSION; REFRACTION ERROR; RETROLENTAL FIBROPLASIA; REVIEW; STICKLER SYNDROME; TURNER SYNDROME; VITREORETINOPATHY; WAGR SYNDROME;

ANIMALS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MYOPIA; REFRACTION, OCULAR; VISION DISORDERS;

ANIMALIA;

EID: 18544375727     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00018-004-4353-z     Document Type: Review

References (87)

1. Curtin B. J. and Karlin D. B. (1971) Axial length measurements and fundus changes of the myopic eye. Am. J. Ophthalmol. 71: 42-53
2. Hosaka A. (1988) Population studies - myopia experience in Japan. Acta Ophthalmol Suppl. 185: 37-40
3. Saw S. M., Gazzard G., Koh D., Farook M., Widjaja D., Lee J., et al. (2002) Prevalence rates of refractive errors in Sumatra, Indonesia. Invest Ophthalmol Vis. Sci. 43: 3174-3180
4. Troilo D. and Wallman J. (1991) The regulation of eye growth and refractive state: an experimental study of emmetropization. Vis. Res. 31: 1237-1250
5. Wildsoet C. F. (1997) Active emmetropization - evidence for its existence and ramifications for clinical practice. Ophthalmic. Physiol. Opt. 17: 279-290
6. Sorsby A., Leary G. A. and Richards M. J. (1962) Correlation ametropia and component ametropia. Vis. Res. 2: 309-313
7. Tron E. J. (1940) The optical elements of the refractive power of the eye. In: Modern Trends in Ophthalmology, p. 245, Ridley F. and Sorsby A. (eds), Buttersworth, London
8. Krumpaszky H. G., Ludtke R., Mickler A., Klauss V. and Selbmann H. K. (1999) Blindness incidence in Germany. A population-based study from Wuerttemberg-Hohenzollern. Ophthalmologica 213: 176-182
9. Karlin D. B. and Curtin B. J. (1976) Peripheral chorioretinal lesions and axial length of the myopic eye. Am. J. Ophthalmol. 81: 625-635
10. Böhringer H. R. (1956) Statistisches zu Häufigkeit und Risiko der Netzhautablösung. Ophthalmologica 131: 331-334
11. Curtin B. J. and Karlin D. B. (1971) Axial length measurements and fundus changes of the myopic eye. Am. J. Ophthalmol. 71: 42-53
12. Thiel H. L. (1969) Über die Erfahrung mit Kataraktoperationen an myopen Augen. Klin. Monatsbl. Augenheilkd. 155: 413-416
13. Korczak J. F. and Goldstein A. M. (1997) Sib-pair linkage analyses of nuclear family data: quantitative versus dichotomous disease classification. Genet. Epidemiol. 14: 827-832
14. Palmer E. A., Patz A., Phelps D. L. and Spencer R. (1994) Retinopathy of prematurity. In: Retina, vol. 2, pp. 1473-1498, Ryan S. J. (eds), Mosby. St Louis
15. Fledelius H., Zak M. and Pedersen F. K. (2001) Refraction in juvenile chronic arthritis: a long-term follow-up study, with emphasis on myopia. Acta Ophthalmol. Scand. 79: 237-239
16. Flaxel C. J., Jay M., Thiselton D. L., Nayudu M., Hardcastle A. J., Wright A. et al. (1999) Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. Br. J. Ophthalmol. 83: 1144-1148
17. Yokoyama A., Maruiwa F, Hayakawa M., Kanai A., Vervoort R., Wright A. et al. (2001) Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. Am. J. Med. Genet. 104: 232-238
18. Pusch C. M., Zeitz C., Brandau O., Pesch K., Achatz H., Feil S. et al. (2000) The complete form of X-linked congenital station ary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat. Genet. 26: 324-327
19. Strom T. M., Nyakatura G., Apfelstedt-Sylla E., Hellebrand H., Lorenz B., Weber B. H. et al. (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat. Genet. 19: 260-263
20. Feldkaemper M. and Schaeffel F. (2003) Interactions of genes and environment in myopia In: Genetics in Ophthalmology, vol. 37, pp. 34-49. Wissinger B., Kohl S., Langenbeck U. (eds), Karger, Basel
21. Saw S. M., Chua W. H., Wu H. M., Yap E., Chia K. S. and Stone R. A. (2000) Myopia: gene-environment interaction. Ann. Acad. Med. Singapore 29: 290-297
22. Saw S. M., Chua W. H., Hong C. Y., Wu H. M., Chan W. Y., Chia K. S. et al. (2002) Nearwork in early-onset myopia. Invest. Ophthalmol. Vis. Sci. 43: 332-339
23. Schaeffel F., Glasser A. and Howland H. C. (1988) Accommodation, refractive error and eye growth in chickens. Vis. Res. 28: 639-657
24. Schor C. (1998) The influence of interactions between accommodation and convergence on the lag of accommodation. Ophthalmic Physiol. Opt. 19: 1-17
25. Morgan I. G. (2003) The biological basis of myopic refractive error. Clin. Exp. Optom. 86: 276-288
26. Francois J. (1961) Heredity in Ophthalmology, Mosby, St Louis
27. Zadnik K., Satariano W. A., Mutti D. O., Sholtz R. I. and Adams A. J. (1994) The effect of parental history of myopia on children's eye size. JAMA 271: 1323-1327
28. Goldschmidt E. (1981) The importance of heredity and environment in the aetiology of low myopia. Acta Ophthalmol. 59: 759-762
29. Mutti D. O., Mitchell G. L., Moeschberger M. L., Jones L. A. and Zadnik K. (2002) Parental myopia, near work, school achievement, and children's refractive error. Invest. Ophthalmol. Vis. Sci. 43: 3633-3640
30. Teikari J. M., O'Donnell J., Kaprio J. and Koskenvuo M. (1991) Impact of heredity in myopia. Hum. Hered. 41:151-156
31. Hammond C. J., Snieder H., Gilbert C. E. and Spector T. D. (2001) Genes and environment in refractive error: the twin eye study. Invest. Ophthalmol. Vis. Sci. 42: 1232-1236
32. Guggenheim J. A., Kirov G. and Hodson S. A. (2000) The of high myopia: a reanalysis of Goldschmidt's data. J. Med. Genet. 37: 227-231
33. Lam D. S., Tam P. O., Fan D. S., Baum L., Leung Y. F. and Pang C. P. (2003) Familial high myopia linkage to chromosome 18p. Ophthalmologica 217: 115-118
34. Heath S., Robledo R., Beggs W., Feola G., Parodo C., Rinaldi A. et al. (2001) A novel approach to search for identity by descent in small samples of patients and controls from the same mendelian breeding unit: a pilot study on myopia. Hum. Hered. 52: 183-190
35. Farbrother J. E., Kirov G., Owen M. J., Pong-Wong R., Haley C. S. and Guggenheim J. A. (2004) Linkage analysis of the genetic loci for high myopia on 18p, 12q and 17q in 51 U.K. families. Invest. Ophthalmol. Vis. Sci. 45: 2879-2885
36. Stambolian D., Ibay G., Reider L., Dana D., Moy C., Schlifka M. et al. (2004) Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am. J. Hum. Genet. 75: 448-459
37. Williams R. W., Strom R. C. and Goldowitz D. (1998) Natural variation in neuron number in mice is linked to a major quantitative trait locus on Chr 11. J. Neurosci. 18: 138-146
38. Pulkkinen L., Alitalo T., Krusius T., Peltonen L. (1992) Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN). Cytogenet. Cell. Genet. 60: 107-111
39. Grover J., Chen X. N., Korenberg J. R. and Roughley P. J. (1995) The human lumican gene. Organization, chromosomal location, and expression in articular cartilage. J. Biol. Chem. 270: 21942-21949
40. Chakravarti S., Stallings R. L., SundarRaj N., Cornuet P. K. and Hassell J. R. (1995) Primary structure of human lumican (keratan sulfate proteoglycan) and localization of the gene (LUM) to chromosome 12q21.3-q22. Genomics 27: 481-488
41. Derdoy J. (1968) Degenerative myopia: scleral collagenopathy? Arch. Oftalmol. B. Aires. 43: 118-122
42. Siegwart J. T. Jr and Norton T. T. (2001) Steady state mRNA levels in tree shrew sclera with form-deprivation myopia and during recovery. Invest. Ophthalmol. Vis. Sci. 42: 1153-1159
43. Rada J. A., Nickla D. L. and Troilo D. (2000) Decreased proteoglycan synthesis associated with form deprivation myopia in mature primate eyes. Invest. Ophthalmol. Vis. Sci. 41: 2050-2058
44. Chakravarti S., Petroll W. M., Hassell J. R., Jester J. V., Lass J. H., Paul J. et al. (2000) Corneal opacity in lumican-null mice: defects in collagen fibril structure and packing in the posterior stroma. Invest. Ophthalmol. Vis. Sci. 41: 3365-3373
45. Austin B. A., Coulon C., Liu C. Y., Kao W. W. and Rada J. A. (2002) Altered collagen fibril formation in the sclera of lumican-deficient mice. Invest. Ophthalmol. Vis. Sci. 43: 1695-1701
46. Lea G. S., Amann S., Chakravarti S., Lass J. and Edelhauser H. F. (2000) Intraocular volumes and surface area measurements of the mouse eye: wild type vs. lumican deficient. Invest. Ophthalmol. Vis. Sci.; 41: Abstract S739
47. Young T. L., Scavello G. S., Paluru P. C. and Ganter W. (2004) Exclusion of lumican and fibromodulin as candidate genes in MYP3-linked high-grade myopia. Invest. Ophthalmol. Vis. Sci. 45: E-Abstract 1244
48. Rada J. A., Cornuet P. K. and Hassell J. R. (1993) Regulation of corneal collagen fibrillogenesis in vitro by corneal proteoglycan (lumican and decorin) core proteins. Exp. Eye Res. 56: 635-648
49. Clarke L. A., Rogers K. M., Wagner S. H., DelBono E. A., Haines J. L., Gwiazda J. E. et al. (2004) Evaluation of small leucine-rich proteoglycans located on chromosome 12q21 in families with juvenile-onset myopia. Invest. Ophthalmol. Vis. Sci. 45: E-Abstract 1245
50. Mutti D. O., Semina E., Marazita M., Cooper M., Murray J. C. and Zadnik K. (2002) Genetic loci for pathological myopia are not associated with juvenile myopia. Am. J. Med. Genet. 112: 355-360
51. Pellegata N. S., Dieguez-Lucena J. L., Joensuu T., Lau S., Montgomery K. T. Krahe R. et al. (2000) Mutations in KERA, encoding keratocan, cause cornea plana. Nat. Genet. 25: 91-95
52. Lehmann O. J., El-ashry M. F., Ebenezer N. D., Ocaka L., Francis P J., Wilkie S. E. et al. (2001) A novel keratocan mutation causing autosomal recessive cornea plana. Invest. Ophthalmol. Vis. Sci. 42: 3118-3122
53. Rohrer B. and Stell W. K. (1994) Basic fibroblast growth factor (bFGF) and transforming growth factor beta (TGF-beta) act as stop and go signals to modulate postnatal ocular growth in the chick. Exp. Eye. Res. 58: 553-561
54. Escano M. F. T., Fujii S., Ishibashi K., Sekiya Y. and Yamamoto M. (1999) Differential expression of bone morphogenetic proteins-2, -4 and -7 in the form-deprived chick eye. Invest. Ophthalmol. Vis. Sci. 40: Abstract S454
55. Escano M. F., Fujii S., Sekiya Y., Yamamoto M. and Negi A. (2000) Expression of Sonic hedgehog and retinal opsin genes in experimentally-induced myopic chick eyes. Exp. Eye Res. 71: 459-467
56. Ohngemach S., Feldkaemper M. and Schaeffel F. (2001) Pineal control of the dopamine D2-receptor gene and dopamine release in the retina of the chicken and their possible relation to growth rhythms of the eye. J. Pineal Res. 31: 145-154
57. Fujii S., Escano M. F., Ishibashi K., Fujii M., Sekiya Y., Yamamoto M. et al. (2000) Differential expression of neuroendocrine-specific protein in form-deprived chick eyes. Invest. Ophthalmol. Vis. Sci. 41: 1533-1541
58. Fujii S., Honda S., Sekiya Y., Yamasaki M., Yamamoto M. and Saijoh K. (1998) Differential expression of nitric oxide synthase isoforms in form-deprived chick eyes. Curr. Eye Res. 17: 586-593
59. Fischer A. J., McGuire J. J., Schaeffel F. and Stell W. K. (1999) Light- and focus-dependent expression of the transcription factor ZENK in the chick retina. Nat. Neurosci. 2: 706-712
60. Lam D. S., Lee W. S., Leung Y. F., Tam P. O., Fan D. S., Fan B. J. et al. (2003) TGFbeta-induced factor: a candidate gene for high myopia. Invest. Ophthalmol. Vis. Sci. 44: 1012-1015
61. Guggenheim J. A. and McBrien N. A. (1996) Form-deprivation myopia induces activation of scleral matrix metalloproteinase-2 in tree shrew. Invest. Ophthalmol. Vis. Sci. 37: 1380-1395
62. Siegwart J. T. Jr and Norton T. T. (2002) The time course of changes in mRNA levels in tree shrew sclera during induced myopia and recovery. Invest. Ophthalmol. Vis. Sci. 43: 2067-2075
63. Li J., Zhang Q. J., Xiao X. S., Li J. Z., Zhang F. S., Li S. Q. et al. (2003) The SNPs analysis of encoding sequence of interacting factor gene in Chinese population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20: 454-456
64. Wotton D., Lo R. S., Lee S. and Massague J. (1999) A Smad transcriptional corepressor. Cell 97: 29-39
65. Scavello G. S., Paluru P. C., Ganter W. R. and Young T. L. (2004) Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. Invest. Ophthalmol. Vis. Sci. 45: 2091-2097
66. Wallis D. E. and Muenke M. (1999) Molecular mechanisms of holoprosencephaly. Mol. Genet. Metab. 68: 126-138
67. Ziman M. R., Rodger J., Chen P., Papadimitriou J. M., Dunlop S. A. and Beazley L. D. (2001) Pax genes in development and maturation of the vertebrate visual system: implications for optic nerve regeneration. Histol. Histopathol. 16: 239-249
68. Clinton M., Manson J., McBride D. and Miele G. (2000) Gene expression changes during murine postnatal brain development. Genome Biol. 1: RESEARCH0005. Epub
69. Zhou G. and Williams R. W. (1999) Mouse models for the analysis of myopia: an analysis of variation in eye size of adult mice. Optom. Vis. Sci. 76: 408-418
70. Halder G., Callaerts P. and Gehring W. J. (1995) Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 267: 1788-1792
71. Hammond C. J., Andrew T., Tat Mak Y. and Spector T. D. (2004) A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins. Am. J. Hum. Genet. 75: 294-304
72. Sivak J. M., Mohan R., Rinehart W. B., Xu P. X., Maas R. L. and Fini M. E. (2000) Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B. Dev. Biol. 222: 41-54
73. Rada J. A., Achen V. R. and Rada K. G. (1998) Proteoglycan turnover in the sclera of normal and experimentally myopic chick eyes. Invest. Ophthalmol. Vis. Sci. 39: 1990-2002
74. Percin E. F., Ploder L. A., Yu J. J., Arici K., Horsford D. J., Rutherford A. et al. (2000) Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat. Genet. 25: 397-401
75. Schimmenti L. A., de la Cruz J., Lewis R. A., Karkera J. D., Manligas G. S., Roessler et al. (2003) Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am. J. Med. Genet. 116A: 215-221
76. Kodama R. and Eguchi G. (1994) Gene regulation and differentiation in vertebrate ocular tissues. Curr. Opin. Genet. Dev. 4: 703-708
77. Amiel J., Audollent S., Joly D., Dureau P., Salomon R., Tellier A. L. et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur. J. Hum. Genet. 8: 820-826
78. Zhong X. W., Ge J., Deng W. G., Chen X. L. and Huang J. (2004) Expression of pax-6 in rhesus monkey of optical defocus induced myopia and form deprivation myopia. Chin. Med. J. (Engl.). 117: 722-726
79. Schaeffel F., Simon P., Feldkaemper M., Ohngemach S. and Williams R. W. (2003) Molecular biology of myopia. Clin. Exp. Optom. 86: 295-307
80. Young T. L., Scavello G. S., Paluru P. C., Choi J. D., Rappaport E. F., Jody A. et al. (2004) Microarray analysis of gene expression in human donor sclera. Mol. Vis. 10: 163-176
81. Hugot J. P., Chamaillard M., Zouali H., Lesage S., Cezard J. P., Belaiche J. et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411: 599-603
82. Hanis C. L., Boerwinkle E., Chakraborty R., Ellsworth D. L., Concannon P., Stirling B. et al. (1996) A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat. Genet. 13: 161-166
83. Zhou G., Williams R. W. (1999) Eye1 and Eye2: quantitative trait loci that modulate eye size, lens weight and retinal area. Invest. Ophthalmol. Vis. Sci. 40: 817-825
84. Williams R. W., Zhou G. (2001) Development of genetic models for myopia research: high resolution mapping of a new set of loci that control eye size in mice. Invest. Ophthalmol. Vis. Sci. 42: Abstract 3508
85. Wilcox M. A., Wyszynski D. F., Panhuysen C. I., Ma Q., Yip A., Farrell J. et al. (2003) Empirically derived phenotypic subgroups - qualitative and quantitative trait analyses. BMC Genetics 4: Abstract S15
86. Liang K. Y., Hsu F. C., Beaty T. H. (2003) Multipoint linkage disequilibrium mapping for complex diseases. Genet. Epidemiol. 25: 285-292
87. Hanein S., Perrault I., Gerber S., Tanguy G., Barbet F., Ducroq D. et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum. Mutat. 23: 306-317