Macular Degeneration, Age-related, 1; Armd1

Description

Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

Clinical Features

Top most frequent phenotypes and symptoms related to Macular Degeneration, Age-related, 1; Armd1

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss
  • Reduced visual acuity
  • Scarring
  • Stroke
  • Hypopigmentation of the skin
  • Progressive visual loss

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including late onset, late onset, and late onset .

Alternative names

Macular Degeneration, Age-related, 1; Armd1 Is also known as maculopathy, age-related, 1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Macular Degeneration, Age-related, 1; Armd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ADmark® ApoE Genotype Analysis and Interpretation (Symptomatic).

By Athena Diagnostics Inc (United States).

APOE
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100 %
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25 %
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SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
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Apolipoprotein E (APOE) Genotype.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

APOE
Specificity
100 %
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APOE.

By Institute for Human Genetics University Clinic Freiburg (Germany).

APOE
Specificity
100 %
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Alzheimer Disease Risk Factor (APOE).

By GENE Núcleo de Genética Médica de Minas Gerais (Brazil).

APOE
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Cardiovascular Disease Risk Factor (Apolipoprotein E).

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

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Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
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APOE. Genotyping of the alleles E2, E3 and E4.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

APOE
Specificity
100 %
Genes
25 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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