Age related macular degeneration 2

Synonyms: MACULAR DEGENERATION, SENILE; MACULOPATHY, AGE-RELATED; MACULOPATHY, AGE-RELATED, 2

Summary

Age-related macular degeneration-2 (ARMD2) is a complex disorder characterized by the accumulation of drusen in and under the retinal pigment epithelium (RPE) and the progressive atrophy of the macular RPE. These changes result in loss of photoreceptor function and vision impairment. Environmental risk factors include cigarette smoking, diet, and cholesterol level (summary by Allikmets et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. [from OMIM]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

ABCA4
109 tests
Also known as: ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1, ABCA4
Summary: ATP binding cassette subfamily A member 4

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Macular degeneration
  Macular degeneration
  - MedGen UID: 7434
  - Concept ID: C0024437
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature

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