Die Makuladegeneration ist eine erbliche Augenerkrankung die die Macula lutea des Auges betrifft und zur Erblindung führt.
Klinisch werden senile und früheinsetzende Formen sowie feuchte und trockene Makuladegenerationunterschieden.
Die genetische Diagnostik erlaubt eine pathogenetische Differenzierung entsprechend der zugrundeliegenden Mutationen.
|Erbliche Augenerkrankungen und Sehstörungen|
|Altersabhängige Makuladegeneration 01|
|Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen|
|Syndromische Microphthalmie 6|
|Tränen- und Speicheldrüsenaplasie|
Nolan JM et al. (2007) Risk factors for age-related maculopathy are associated with a relative lack of macular pigment.
Tan JS et al. (2007) Statins and the long-term risk of incident age-related macular degeneration: the Blue Mountains Eye Study.
Schaumberg DA et al. (2007) High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women.
Chakravarthy U et al. (2007) Cigarette smoking and age-related macular degeneration in the EUREYE Study.
Boekhoorn SS et al. (2007) Estrogen receptor alpha gene polymorphisms associated with incident aging macula disorder.
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.
Kim DH et al. (2007) Strategies for silencing human disease using RNA interference.
Decanini A et al. (2007) Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration.
Tan JS et al. (2007) Cardiovascular risk factors and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study.
Fisher SA et al. (2007) Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
Tamer C et al. (2007) Serum dehydroepiandrosterone sulphate level in age-related macular degeneration.
Bhosale P et al. (2007) Identification of 3-methoxyzeaxanthin as a novel age-related carotenoid metabolite in the human macula.
None (2006) Age-related macular degeneration.
Imamura Y et al. (2006) Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration.
Chowers I et al. (2006) The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration.
Thornton J et al. (2005) Smoking and age-related macular degeneration: a review of association.
Schultz DW et al. (2005) HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective.
Dunaief JL et al. (2005) Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload.
Postel EA et al. (2005) Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families.
Ethen CM et al. (2005) Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration.
Jonasson F et al. (2005) 5-year incidence of age-related maculopathy in the Reykjavik Eye Study.
None (2004) Current concepts in the pathogenesis of age-related macular degeneration.
Fujihara M et al. (2009) A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD.
Joachim N et al. (2015) The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study.
Pang CE et al. (2015) The Onion Sign in Neovascular Age-Related Macular Degeneration Represents Cholesterol Crystals.
Pras E et al. (2015) Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.
Fowler BJ et al. (2014) Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity.
Arakawa S et al. (2011) Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
Kaneko H et al. (2011) DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration.
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.
Takeda A et al. (2009) CCR3 is a target for age-related macular degeneration diagnosis and therapy.
Allikmets R et al. (2009) Geographic atrophy in age-related macular degeneration and TLR3.
Edwards AO et al. (2009) Geographic atrophy in age-related macular degeneration and TLR3.
Lambooij AC et al. (2003) Insulin-like growth factor-I and its receptor in neovascular age-related macular degeneration.
Yang Z et al. (2008) Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
Kleinman ME et al. (2008) Sequence- and target-independent angiogenesis suppression by siRNA via TLR3.
Lotery A et al. (2007) Progress in defining the molecular biology of age related macular degeneration.
Thompson CL et al. (2007) Genetics of pigment changes and geographic atrophy.
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.
Maruko I et al. (2007) Clinical characteristics of exudative age-related macular degeneration in Japanese patients.
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.
Sivaprasad S et al. (2007) Estimation of systemic complement C3 activity in age-related macular degeneration.
Kamei M et al. (2007) Scavenger receptors for oxidized lipoprotein in age-related macular degeneration.
Malek G et al. (2005) Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration.
Weeks DE et al. (2001) Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions.
Yannuzzi LA et al. (2001) Retinal angiomatous proliferation in age-related macular degeneration.
Beatty S et al. () The role of oxidative stress in the pathogenesis of age-related macular degeneration.
Weeks DE et al. (2000) A full genome scan for age-related maculopathy.
Smith RS et al. (2000) The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization.
Klein ML et al. (1998) Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.
Allikmets R et al. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Seddon JM et al. (1997) Familial aggregation of age-related maculopathy.
Heiba IM et al. (1994) Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study.
None (1966) Dystrophy of the macula.
Jonas JB et al. (2004) Intravitreal reinjection of triamcinolone for exudative age-related macular degeneration.
Ratnapriya R et al. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Jakobsdottir J et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26.
Weeks DE et al. (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.
Seddon JM et al. (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.
Majewski J et al. (2003) Age-related macular degeneration--a genome scan in extended families.
Tarallo V et al. (2012) DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88.
Doyle SL et al. (2012) NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components.
Seddon JM et al. (2005) Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers.
Goverdhan SV et al. (2005) Association of HLA class I and class II polymorphisms with age-related macular degeneration.
Krzystolik MG et al. (2002) Prevention of experimental choroidal neovascularization with intravitreal anti-vascular endothelial growth factor antibody fragment.
Klein R et al. (2004) The epidemiology of age-related macular degeneration.
Grisanti S et al. (2004) Expression of endoglin in choroidal neovascularization.
Scholl HP et al. (2004) What is lost by digitizing stereoscopic fundus color slides for macular grading in age-related maculopathy and degeneration?
Axer-Siegel R et al. (2004) Association of neovascular age-related macular degeneration and hyperhomocysteinemia.
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.
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.
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.
Heckenlively JR et al. (2003) Mouse model of subretinal neovascularization with choroidal anastomosis.
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.
Danciger M et al. (2003) A strong and highly significant QTL on chromosome 6 that protects the mouse from age-related retinal degeneration.
Klein R et al. (2003) Association of emphysema, gout, and inflammatory markers with long-term incidence of age-related maculopathy.
Phipps JA et al. (2003) Loss of cone function in age-related maculopathy.
Borrillo JL et al. (2003) Surgical ablation of retinal angiomatous proliferation.
Jonasson F et al. (2003) The prevalence of age-related maculopathy in iceland: Reykjavik eye study.
Cousins SW et al. (2003) Female gender, estrogen loss, and Sub-RPE deposit formation in aged mice.
Malek G et al. (2003) Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy.
None (2002) New insights and new approaches toward the study of age-related macular degeneration.
Crabb JW et al. (2002) Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.
None (2002) Retinal angiomatous proliferation in age-related macular degeneration.
Dithmar S et al. (2001) Murine high-fat diet and laser photochemical model of basal deposits in Bruch membrane.
Orphanet articleOrphanet ID 1243
Wikipedia ArtikelWikipedia DE (Makuladegeneration)