Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Macular degeneration is a hereditary eye disease affecting macula lutea and leading to blindness.
Clinically macular degeneration can be classified into age-dependent and juvenile or dry (nonexudative) and wet (exudative).
Genetic diagnosis allows to further differentiate according to the underlying genetic defect.
| 1. |
Thornton J et al. (2005) Smoking and age-related macular degeneration: a review of association. 
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Gupta SK et al. (2007) Prevalence of early and late age-related macular degeneration in a rural population in northern India: the INDEYE feasibility study.
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Kim DH et al. (2007) Strategies for silencing human disease using RNA interference.
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Decanini A et al. (2007) Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration.
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Tan JS et al. (2007) Cardiovascular risk factors and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study.
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Fisher SA et al. (2007) Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
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Tamer C et al. (2007) Serum dehydroepiandrosterone sulphate level in age-related macular degeneration.
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Nolan JM et al. (2007) Risk factors for age-related maculopathy are associated with a relative lack of macular pigment.
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None (2006) Age-related macular degeneration.
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| 10. |
Imamura Y et al. (2006) Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration.
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Chowers I et al. (2006) The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration.
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| 12. |
Boekhoorn SS et al. (2007) Estrogen receptor alpha gene polymorphisms associated with incident aging macula disorder.
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Schultz DW et al. (2005) HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective.
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| 14. |
Dunaief JL et al. (2005) Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload.
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| 15. |
Postel EA et al. (2005) Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families.
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| 16. |
Ethen CM et al. (2005) Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration.
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| 17. |
Jonasson F et al. (2005) 5-year incidence of age-related maculopathy in the Reykjavik Eye Study.
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None (2004) Current concepts in the pathogenesis of age-related macular degeneration.
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Klein R et al. (2004) The epidemiology of age-related macular degeneration.
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| 20. |
Jonas JB et al. (2004) Intravitreal reinjection of triamcinolone for exudative age-related macular degeneration.
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| 21. |
Grisanti S et al. (2004) Expression of endoglin in choroidal neovascularization.
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| 22. |
Scholl HP et al. (2004) What is lost by digitizing stereoscopic fundus color slides for macular grading in age-related maculopathy and degeneration?
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| 23. |
Thompson CL et al. (2007) Genetics of pigment changes and geographic atrophy.
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| 24. |
Joachim N et al. (2015) The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study.
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| 25. |
Pang CE et al. (2015) The Onion Sign in Neovascular Age-Related Macular Degeneration Represents Cholesterol Crystals.
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| 26. |
Pras E et al. (2015) Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.
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| 27. |
Fowler BJ et al. (2014) Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity.
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| 28. |
Arakawa S et al. (2011) Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
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| 29. |
Kaneko H et al. (2011) DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration.
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| 30. |
Kondo N et al. (2010) Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration.
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| 31. |
Takeda A et al. (2009) CCR3 is a target for age-related macular degeneration diagnosis and therapy.
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| 32. |
Fujihara M et al. (2009) A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD.
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| 33. |
Lotery A et al. (2007) Progress in defining the molecular biology of age related macular degeneration.
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| 34. |
Lambooij AC et al. (2003) Insulin-like growth factor-I and its receptor in neovascular age-related macular degeneration.
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| 35. |
Li C et al. (2007) Biochemical alterations in the retinas of very low-density lipoprotein receptor knockout mice: an animal model of retinal angiomatous proliferation.
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| 36. |
Maruko I et al. (2007) Clinical characteristics of exudative age-related macular degeneration in Japanese patients.
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| 37. |
De S et al. (2007) Human retinal pigment epithelium cell changes and expression of alphaB-crystallin: a biomarker for retinal pigment epithelium cell change in age-related macular degeneration.
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| 38. |
Sivaprasad S et al. (2007) Estimation of systemic complement C3 activity in age-related macular degeneration.
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| 39. |
Kamei M et al. (2007) Scavenger receptors for oxidized lipoprotein in age-related macular degeneration.
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| 40. |
Bhosale P et al. (2007) Identification of 3-methoxyzeaxanthin as a novel age-related carotenoid metabolite in the human macula.
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| 41. |
Tan JS et al. (2007) Statins and the long-term risk of incident age-related macular degeneration: the Blue Mountains Eye Study.
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| 42. |
Schaumberg DA et al. (2007) High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women.
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| 43. |
Chakravarthy U et al. (2007) Cigarette smoking and age-related macular degeneration in the EUREYE Study.
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| 44. |
Seddon JM et al. (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.
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| 45. |
Smith RS et al. (2000) The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization.
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| 46. |
Klein ML et al. (1998) Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.
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| 47. |
Allikmets R et al. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
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| 48. |
Seddon JM et al. (1997) Familial aggregation of age-related maculopathy.
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| 49. |
Heiba IM et al. (1994) Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study.
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| 50. |
None (1966) Dystrophy of the macula.
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| 51. |
Malek G et al. (2005) Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration.
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| 52. |
Ratnapriya R et al. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
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| 53. |
Jakobsdottir J et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26.
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| 54. |
Weeks DE et al. (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.
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| 55. |
Iyengar SK et al. (2004) Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration.
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| 56. |
Majewski J et al. (2003) Age-related macular degeneration--a genome scan in extended families.
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| 57. |
Doyle SL et al. (2012) NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components.
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| 58. |
Allikmets R et al. (2009) Geographic atrophy in age-related macular degeneration and TLR3.
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| 59. |
Edwards AO et al. (2009) Geographic atrophy in age-related macular degeneration and TLR3.
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| 60. |
Yang Z et al. (2008) Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
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| 61. |
Kleinman ME et al. (2008) Sequence- and target-independent angiogenesis suppression by siRNA via TLR3.
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| 62. |
Tarallo V et al. (2012) DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88.
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| 63. |
Seddon JM et al. (2005) Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers.
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| 64. |
Goverdhan SV et al. (2005) Association of HLA class I and class II polymorphisms with age-related macular degeneration.
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| 65. |
Beatty S et al. () The role of oxidative stress in the pathogenesis of age-related macular degeneration.
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| 66. |
Axer-Siegel R et al. (2004) Association of neovascular age-related macular degeneration and hyperhomocysteinemia.
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| 67. |
Espinosa-Heidmann DG et al. (2004) Basal laminar deposit formation in APO B100 transgenic mice: complex interactions between dietary fat, blue light, and vitamin E.
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| 68. |
Schultz DW et al. (2003) Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
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| 69. |
Heckenlively JR et al. (2003) Mouse model of subretinal neovascularization with choroidal anastomosis.
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| 70. |
Hahn P et al. (2003) Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigment epithelium and Bruch's membrane.
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| 71. |
Danciger M et al. (2003) A strong and highly significant QTL on chromosome 6 that protects the mouse from age-related retinal degeneration.
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| 72. |
Klein R et al. (2003) Association of emphysema, gout, and inflammatory markers with long-term incidence of age-related maculopathy.
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| 73. |
Phipps JA et al. (2003) Loss of cone function in age-related maculopathy.
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| 74. |
Borrillo JL et al. (2003) Surgical ablation of retinal angiomatous proliferation.
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| 75. |
Jonasson F et al. (2003) The prevalence of age-related maculopathy in iceland: Reykjavik eye study.
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| 76. |
Cousins SW et al. (2003) Female gender, estrogen loss, and Sub-RPE deposit formation in aged mice.
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| 77. |
Malek G et al. (2003) Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy.
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| 78. |
None (2002) New insights and new approaches toward the study of age-related macular degeneration.
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| 79. |
Crabb JW et al. (2002) Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.
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| 80. |
None (2002) Retinal angiomatous proliferation in age-related macular degeneration.
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| 81. |
Krzystolik MG et al. (2002) Prevention of experimental choroidal neovascularization with intravitreal anti-vascular endothelial growth factor antibody fragment.
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| 82. |
Dithmar S et al. (2001) Murine high-fat diet and laser photochemical model of basal deposits in Bruch membrane.
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| 83. |
Weeks DE et al. (2001) Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions.
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| 84. |
Yannuzzi LA et al. (2001) Retinal angiomatous proliferation in age-related macular degeneration.
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| 85. |
Weeks DE et al. (2000) A full genome scan for age-related maculopathy.
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| 86. |
Orphanet article Orphanet ID 1243
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| 87. |
Wikipedia article Wikipedia EN (Macular_degeneration)
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