Macular Degeneration, Age-related, 13; Armd13

Description

Age-related macular degeneration (ARMD) is a multifactorial disorder of the central retina that is the most prevalent cause of progressive vision loss in the developed world. As in other chronic age-related diseases, most cases result from interplay between multiple environmental and genetic factors, with a resultant spectrum of phenotypes. In rare cases, ARMD may manifest early, but there is an exponential rise in prevalence after the age of 60 years (summary by Pras et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see {603075}.

Clinical Features

Phenotypes and symptoms related to Macular Degeneration, Age-related, 13; Armd13

  • Blindness
  • Visual loss
  • Progressive visual loss
  • Macular degeneration
  • Drusen
  • Choroidal neovascularization
  • Macular scar
  • Geographic atrophy

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

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.

Macular Degeneration, Age-related, 13; Armd13 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFI-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFI
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFB, THBD, C3, APLN, CFHR5, CFH, CFI, CD46
Specificity
13 %
Genes
100 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

CFB, THBD, C3, ADAMTS13, CFHR3, MMACHC, CFHR5, DGKE, CFH, CFHR1, CFI, CD46, PLG
Specificity
8 %
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100 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFB, THBD, C3, CFHR3, CFHR5, DGKE, CFH, CFHR1, CFI, CD46
Specificity
10 %
Genes
100 %
CFI Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFI
Specificity
100 %
Genes
100 %
CFI Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFI
Specificity
100 %
Genes
100 %
aHUS Genetic Susceptibility Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFB, THBD, C3, DGKE, CFI
Specificity
20 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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