The genetics of inherited macular dystrophies.

doi:10.1136/jmg.40.9.641

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Article

The genetics of inherited macular dystrophies.

Journal of medical genetics - 1 Sept 2003

Michaelides M, Hunt D M, Moore A T

Abstract excerpt

The inherited macular dystrophies comprise a heterogeneous group of disorders characterised by central visual loss and atrophy of the macula and underlying retinal pigment epithelium (RPE). The different forms of macular degeneration encompass a wide range of clinical, psychophysical and histological findings. The complexity of the molecular basis of monogenic macular disease is now beginning to be elucidated...

Topics

Chromosome Mapping
Genetic Predisposition to Disease
Genotype
Humans
Macular Degeneration
Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 12960208
DOI: 10.1136/jmg.40.9.641
PMCID: PMC1735576

Genes

ABCA4
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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