Genetic and early life influences on the human retinal microcirculation

Basic and Clinical Pharmacology and Toxicology

Volumn 110, Issue 1, 2012, Pages 19-25

  Hughes, Alun D ^a  

^a IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANATOMICAL VARIATION; BLOOD VESSEL; CARDIOVASCULAR DISEASE; CLINICAL ASSESSMENT; EARLY LIFE STRESS; GENETIC PREDISPOSITION; HEREDITY; HUMAN; MICROCIRCULATION; PRIORITY JOURNAL; RETINA; SHORT SURVEY; VISION;

ADULT; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MICROCIRCULATION; MICROVESSELS; PREMATURE BIRTH; RETINA; RETINAL DISEASES; RETINAL VESSELS; VASCULAR DISEASES;

EID: 83455242279     PISSN: 17427835     EISSN: 17427843     Source Type: Journal    
DOI: 10.1111/j.1742-7843.2011.00817.x     Document Type: Short Survey

References (81)

1. Secomb TW, Pries AR. The microcirculation: physiology at the mesoscale. J Physiol 2011;589(Pt 5):1047-52.
2. Johnson PC. Overview of the microcirculation. Handbook of Physiology: Microcirculation, 2nd edn. Academic Press, San Diego, CA, USA, 2008;ix-xxiv.
3. Krentz AJ, Clough G, Byrne CD. Vascular disease in the metabolic syndrome: do we need to target the microcirculation to treat large vessel disease? J Vasc Res 2009;46:515-26.
4. Granger DN, Rodrigues SF, Yildirim A, Senchenkova EY. Microvascular responses to cardiovascular risk factors. Microcirculation 2010;17:192-205.
5. Lundy DJ, Trzeciak S. Microcirculatory dysfunction in sepsis. Crit Care Clin 2009;25:721-31, viii.
6. Venkataraman ST, Flanagan JG, Hudson C. Vascular reactivity of optic nerve head and retinal blood vessels in glaucoma - a review. Microcirculation 2010;17:568-81.
7. Bressler SB. Introduction: understanding the role of angiogenesis and antiangiogenic agents in age-related macular degeneration. Ophthalmology 2009;116(10 Suppl):S1-7.
8. Sapieha P, Joyal JS, Rivera JC, Kermorvant-Duchemin E, Sennlaub F, Hardy P et al. Retinopathy of prematurity: understanding ischemic retinal vasculopathies at an extreme of life. J Clin Invest 2010;120:3022-32.
9. Hughes AD. The clinical assessment of retinal microvascular structure and therapeutic implications. Curr Treat Options Cardiovasc Med 2007;9:236-41.
10. Liew G, Wang JJ, Mitchell P, Wong TY. Retinal vascular imaging: a new tool in microvascular disease research. Circ Cardiovasc Imaging 2008;1:156-61.
11. Knudtson MD, Lee KE, Hubbard LD, Wong TY, Klein R, Klein BE. Revised formulas for summarizing retinal vessel diameters. Curr Eye Res 2003;27:143-9.
12. Stanton AV, Mullaney P, Mee F, O'Brien ET, O'Malley K. A method of quantifying retinal microvascular alterations associated with blood pressure and age. J Hypertens 1995;13:41-8.
13. Hughes AD, Martinez-Perez E, Jabbar AS et al. Quantification of topological changes in retinal vascular architecture in essential and malignant hypertension. J Hypertens 2006;24:889-94.
14. Stanton AV, Wasan B, Cerutti A et al. Vascular network changes in the retina with age and hypertension. J Hypertens 1995; 13:1724-8.
15. Masters BR. Fractal analysis of the vascular tree in the human retina. Annu Rev Biomed Eng 2004;6:427-52.
16. Witt NW, Chapman N, Thom SA, Stanton AV, Parker KH, Hughes AD. A novel measure to characterise optimality of diameter relationships at retinal vascular bifurcations. Artery Res 2010;4:75-80.
17. Hart WE, Goldbaum M, Cote B, Kube P, Nelson MR. Measurement and classification of retinal vascular tortuosity. Int J Med Inform 1999;53:239-52.
18. Michelson G, Warntges S, Baleanu D et al. Morphometric age-related evaluation of small retinal vessels by scanning laser Doppler flowmetry: determination of a vessel wall index. Retina 2007;27:490-8.
19. Funk RH. Blood supply of the retina. Ophthalmic Res 1997; 29:320-5.
20. Faughnan ME, Palda VA, Garcia-Tsao G et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011;48:73-87.
21. Faughnan ME, Granton JT, Young LH. The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur Respir J 2009;33:1186-94.
22. Tikellis G, Gillies MC, Guymer RH, McAllister IL, Shaw JE, Wong TY. Retinal vascular caliber and macular telangiectasia type 2. Ophthalmology 2009;116:319-23.
23. Staropoli JF, Xin W, Sims KB. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4. J Med Genet 2010;47:786-90.
24. Heimann H, Damato B. Congenital vascular malformations of the retina and choroid. Eye (Lond) 2010;24:459-67.
25. Bhisitkul RB, Rizen M. Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. Br J Ophthalmol 2004; 88:354-7.
26. Geisthoff UW, Hille K, Ruprecht KW, Verse T, Plinkert PK. Prevalence of ocular manifestations in hereditary hemorrhagic telangiectasia. Graefes Arch Clin Exp Ophthalmol 2007;245:1141-4.
27. Dupuis-Girod S, Bailly S, Plauchu H. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. J Thromb Haemost 2010;8:1447-56.
28. Parmalee NL, Schubert C, Merriam JE et al. Analysis of candidate genes for macular telangiectasia type 2. Mol Vis 2010; 16:2718-26.
29. Frenkel M, Russe HP. Retinal telangiectasia associated with hypogammaglobulinemia. Am J Ophthalmol 1967;63:215-20.
30. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006;34:1-15.
31. Sims KB. NDP-Related Retinopathies. 23-7-2009. NCBI Bookshelf GeneReviews, Seattle, WA, 2009.
32. Bamashmus MA, Downey LM, Inglehearn CF, Gupta SR, Mansfield DC. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree. Br J Ophthalmol 2000;84:358-63.
33. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat 2005;26:104-12.
34. Andersson GM, Dahlgren J, Aring E, Kraemer M, Hellstrom A. Ophthalmological findings in children and adolescents with Silver-Russell syndrome. Br J Ophthalmol 2011;95:637-41.
35. Raitta C, Kaitila I. The ophthalmological findings in autosomal recessive severe juvenile arteriosclerosis. Acta Ophthalmol (Copenh) 1985;63:175-82.
36. Beemer FA, de Nef JJ, Delleman JW, Bleeker-Wagemakers EM, Shprintzen RJ. Additional eye findings in a girl with the velo-cardio-facial syndrome. Am J Med Genet 1986;24:541-2.
37. Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet 2006;27:145-9.
38. Winter M, Pankau R, Amm M, Gosch A, Wessel A. The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet 1996;49:28-31.
39. Richard C, Tranchemontagne J, Elsliger MA, Mitchell GA, Potier M, Pshezhetsky AV. Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene. Hum Mutat 1998;11:461-9.
40. Allen LE, Cosgrave EM, Kersey JP, Ramaswami U. Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity. Br J Ophthalmol 2010;94:1602-5.
41. Vahedi K, Massin P, Guichard JP et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology 2003;60:57-63.
42. Chung DC, Traboulsi EI. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. J AAPOS 2009;13:587-92.
43. Ayuso C, Millan JM. Retinitis pigmentosa and allied conditions today: a paradigm of translational research. Genome Med 2010;2:34.
44. Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y. Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. Arch Ophthalmol 2003;121:1028-33.
45. Roine S, Harju M, Kivela TT et al. Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study. Ophthalmology 2006;113:1411-7.
46. Cumurciuc R, Massin P, Paques M et al. Retinal abnormalities in CADASIL: a retrospective study of 18 patients. J Neurol Neurosurg Psychiatry 2004;75:1058-60.
47. Passos-Bueno MR, Marie SK, Monteiro M et al. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. Am J Med Genet 1994;52:170-3.
48. Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet 2000;9:2051-8.
49. Parsa CF, Silva ED, Sundin OH et al. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. Ophthalmology 2001;108:738-49.
50. Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome. Semin Ophthalmol 2007;22:205-10.
51. Hellstrom A, Carlsson B, Niklasson A et al. IGF-I is critical for normal vascularization of the human retina. J Clin Endocrinol Metab 2002;87:3413-6.
52. Hellstrom A, Svensson E, Carlsson B, Niklasson A, Albertsson-Wikland K. Reduced retinal vascularization in children with growth hormone deficiency. J Clin Endocrinol Metab 1999;84:795-8.
53. Hoskin A, Sehmi K, Bird AC. Sorsby's pseudoinflammatory macular dystrophy. Br J Ophthalmol 1981;65:859-65.
54. Finger RP, Charbel IP, Ladewig MS et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol 2009;54:272-85.
55. Taarnhoj NC, Larsen M, Sander B et al. Heritability of retinal vessel diameters and blood pressure: a twin study. Invest Ophthalmol Vis Sci 2006;47:3539-44.
56. Sun C, Zhu G, Wong TY et al. Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study. Hypertension 2009;54:788-95.
57. Fahy SJ, Sun C, Zhu G et al. The relationship between retinal arteriolar and venular calibers is genetically mediated, and each is associated with risk of cardiovascular disease. Invest Ophthalmol Vis Sci 2011;52:975-81.
58. Liew G, Shankar A, Wang JJ et al. Apolipoprotein E gene polymorphisms and retinal vascular signs: the atherosclerosis risk in communities (ARIC) study. Arch Ophthalmol 2007;125:813-8.
59. Sun C, Wang JJ, Islam FM et al. Hypertension genes and retinal vascular calibre: the Cardiovascular Health Study. J Hum Hypertens 2009;23:578-84.
60. Tanabe Y, Kawasaki R, Wang JJ et al. Angiotensin-converting enzyme gene and retinal arteriolar narrowing: the Funagata Study. J Hum Hypertens 2009;23:788-93.
61. Murphey LJ, Gainer JV, Vaughan DE, Brown NJ. Angiotensin-converting enzyme insertion/deletion polymorphism modulates the human in vivo metabolism of bradykinin. Circulation 2000;102:829-32.
62. Ikram MK, Sim X, Jensen RA et al. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet 2010;6:e1001184.
63. Cheng CY, Reich D, Coresh J et al. Admixture mapping of obesity-related traits in African Americans: the Atherosclerosis Risk in Communities (ARIC) Study. Obesity (Silver Spring) 2010;18:563-72.
64. Kuh D, Davey Smith G. The life course and adult chronic disease: an historical perspective with particular reference to coronary heart disease. A Life Course Approach to Chronic Disease Epidemiology, 2nd edn. Oxford University Press, Oxford, UK, 2004;15-37.
65. Barker DJ, Eriksson JG, Forsen T, Osmond C. Fetal origins of adult disease: strength of effects and biological basis. Int J Epidemiol 2002;31:1235-9.
66. Hellstrom A, Dahlgren J, Marsal K, Ley D. Abnormal retinal vascular morphology in young adults following intrauterine growth restriction. Pediatrics 2004;113:e77-80.
67. Hellstrom A, Hard AL, Svensson E, Niklasson A. Ocular fundus abnormalities in children born before 29weeks of gestation: a population-based study. Eye (Lond) 2000;14(Pt 3A):324-9.
68. Kistner A, Jacobson L, Jacobson SH, Svensson E, Hellstrom A. Low gestational age associated with abnormal retinal vascularization and increased blood pressure in adult women. Pediatr Res 2002;51:675-80.
69. Baum JD. Retinal artery tortuosity in ex-premature infants. 18-year follow-up on eyes of premature infants. Arch Dis Child 1971;46:247-52.
70. Hellstrom A, Chen Y, Stromland K. Fundus morphology assessed by digital image analysis in children with fetal alcohol syndrome. J Pediatr Ophthalmol Strabismus 1997;34:17-23.
71. De Stavola BL, Nitsch D, dos SSI et al. Statistical issues in life course epidemiology. Am J Epidemiol 2006;163:84-96.
72. Chapman N, Mohamudally A, Cerutti A, Stanton A, Sayer AA, Cooper C et al. Retinal vascular network architecture in low-birth-weight men. J Hypertens 1997;15(12 Pt 1):1449-53.
73. Liew G, Wang JJ, Duncan BB et al. Low birthweight is associated with narrower arterioles in adults. Hypertension 2008;51:933-8.
74. Mitchell P, Liew G, Rochtchina E et al. Evidence of arteriolar narrowing in low-birth-weight children. Circulation 2008; 118:518-24.
75. Sun C, Ponsonby AL, Wong TY et al. Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania. Hypertension 2009;53:487-93.
76. Gopinath B, Baur LA, Wang JJ et al. Smaller birth size is associated with narrower retinal arterioles in early adolescence. Microcirculation 2010;17:660-8.
77. Tapp RJ, Williams C, Witt N et al. Impact of size at birth on the microvasculature: the Avon Longitudinal Study of Parents and Children. Pediatrics 2007;120:e1225-8.
78. Gamborg M, Byberg L, Rasmussen F et al. Birth weight and systolic blood pressure in adolescence and adulthood: meta-regression analysis of sex- and age-specific results from 20 Nordic studies. Am J Epidemiol 2007;166:634-45.
79. Ehret GB, Munroe PB, Rice KM et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011;478:103-9.
80. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
81. Eichler EE, Flint J, Gibson G et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 2010;11:446-50.