Molecular Genetic Studies of Retinal Dystrophies Principally Affecting the Macula

  • Kevin Evans
  • Cheryl Y. Gregory
  • Sujeewa Wijesuriya
  • Marcelle Jay
  • Amresh Chopdar
  • Shomi S. Bhattacharya

Abstract

More than 3000 inherited disorders are known to afflict man. Amongst these, 372 distinct entities are associated with choroidoretinal dystrophies, 104 of which are solely ocular (1). For most, little information is as yet available on the underlying genetic or biological deficit. Developments in molecular genetics are improving this situation. Recently a number of retinal dystrophies have been assigned to refined chromosomal loci and in some cases specific gene mutations identified. Dystrophies which exclusively or principally affect the macular region of the human retina are an important subgroup. Characteristically there is earlier onset loss of central acuity with color vision deficits. These conditions contribute significantly to the incidence of blindness in developed countries such as the USA and UK, especially for onset of blindness in childhood (2). Since some macular diseases share similar histopathologic and clinical features, elucidation of the precise pathogenic mechanisms in selected examples may indirectly shed light on the pathogenesis of others. Therefore, with the aim of identifying genetic loci important in the pathogenesis of macular disease in general, a molecular genetic study was undertaken in seven pedigrees expressing different phenotypes that principally affect macular function.

Keywords

Codon Recombination Electrophoresis Retina Pyruvate 

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Copyright information

© Springer Science+Business Media New York 1995

Authors and Affiliations

  • Kevin Evans
    • 1
  • Cheryl Y. Gregory
    • 2
  • Sujeewa Wijesuriya
    • 2
  • Marcelle Jay
    • 1
  • Amresh Chopdar
    • 3
  • Shomi S. Bhattacharya
    • 2
  1. 1.Department of Clinical OphthalmologyMoorfields Eye HospitalLondonUK
  2. 2.Department of Molecular GeneticsInstitute of OphthalmologyLondonUK
  3. 3.Department of OphthalmologyEasy Surrey HospitalRedhillUK

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