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Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

Jasdeep S Gill1, Michalis Georgiou1,2, Angelos Kalitzeos1,2

  • 1UCL Institute of Ophthalmology, University College London, London, UK.

The British Journal of Ophthalmology
|January 26, 2019
PubMed

Insights

Progressive cone and cone-rod dystrophies involve photoreceptor degeneration, leading to vision loss. Research is advancing our understanding of their genetics and potential new treatments.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Progressive cone and cone-rod dystrophies are inherited retinal diseases.
  • They cause degeneration of cone photoreceptors, potentially followed by rod loss.
  • Symptoms include central vision loss, color vision issues, and photophobia.

Purpose of the Study:

  • To review the genetics, clinical features, and diagnostic characteristics of cone and cone-rod dystrophies.
  • To highlight genotype-phenotype correlations.
  • To focus on common disease-associated genes: GUCA1A, PRPH2, ABCA4, and RPGR.

Main Methods:

  • Literature review of genetics, clinical presentation, psychophysics, electrophysiology, and retinal imaging.
  • Focus on specific genes implicated in these dystrophies.
  • Discussion of current management and future therapeutic prospects.

Main Results:

  • Over 30 genes are implicated in cone and cone-rod dystrophies.
  • Detailed discussion of GUCA1A, PRPH2, ABCA4, and RPGR gene associations.
  • Understanding of genotype-phenotype correlations is improving.

Conclusions:

  • Significant progress in understanding the genetic basis of these disorders.
  • Current management strategies and emerging therapies offer hope.
  • Further research into specific genes and therapeutic targets is ongoing.
Keywords:
dystrophygeneticsimagingretina

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