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The genetics of inherited macular dystrophies
  1. M Michaelides,
  2. D M Hunt,
  3. A T Moore
  1. Institute of Ophthalmology, University College London, London, UK
  1. Correspondence to:
 Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK;


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 with the identification of many of the disease-causing genes. Age related macular degeneration (ARMD), the leading cause of blind registration in the developed world, may also have a significant genetic component to its aetiology. Genes implicated in monogenic macular dystrophies are good candidate susceptibility genes for ARMD, although to date, with the possible exception of ABCA4, none of these genes have been shown to confer increased risk of ARMD.

The aim of this paper is to review current knowledge relating to the monogenic macular dystrophies, with discussion of currently mapped genes, chromosomal loci and genotype-phenotype relationships. Inherited systemic disorders with a macular dystrophy component will not be discussed.

  • adMD, autosomal dominant atrophic macular degeneration
  • AF, autofluorescence
  • ARMD, age related macular degeneration
  • AVMD, adult vitelliform macular dystrophy
  • CACD, central areolar choroidal dystrophy
  • CORD, cone-rod dystrophy
  • EOGm, electro-oculography
  • ERG, electroretinography
  • FFA, fundus fluorescein angiography
  • PBCRA, progressive bifocal chorioretinal atrophy
  • RP, retinitis pigmentosa
  • RPE, retinal pigment epithelium
  • SFD, Sorsby fundus dystrophy
  • SRNVM, subretinal neovascular membrane
  • VEGF, vascular endothelial growth factor
  • inherited
  • dystrophy
  • genetics
  • phenotype

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