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Developmental macular disorders: phenotypes and underlying molecular genetic basis
  1. Michel Michaelides1,2,
  2. Glen Jeffery1,
  3. Anthony T Moore1,2
  1. 1UCL Institute of Ophthalmology, University College London, London, UK
  2. 2Moorfields Eye Hospital, London, UK
  1. Correspondence to Dr Michel Michaelides, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; michel.michaelides{at}ucl.ac.uk

Abstract

The developmental macular disorders form part of a heterogeneous group of retinal conditions that are an important cause of visual impairment in children. The macular abnormality is present from birth and is usually non-progressive but visual loss may occur as a result of complications such as choroidal neovascularisation. To date, most of the causative genes have not been identified but with the advent of next generation sequencing, it is likely that the genetic basis of these disorders will soon be elucidated. Improved knowledge of the underlying molecular genetics and disease mechanisms will raise the possibility of future treatments for these disorders, for which there are no specific therapies available at the present time.

  • Clinical Trial
  • macula
  • retina
  • ciliary body
  • degeneration
  • pathology
  • macula
  • genetics
  • embryology and development
  • dystrophy
  • visual pathway
  • electrophysiology

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Footnotes

  • Funding This work was supported by grants from the Foundation Fighting Blindness (USA), Moorfields Special Trustees, Fight for Sight, and the National Institute for Health Research UK to the Biomedical Research Centre for Ophthalmology based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology. MM is supported by an FFB Career Development Award.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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