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RETINAL DYSTROPHIES AND SYNDROMES

Macular Dystrophies

Macular Dystrophies - Start  
Macular Dystrophies - End  

Macular dystrophies encompass a group of progressive degenerations of the retina and/or choroid affecting the macular area. They represent phenotypical manifestations of metabolic disorders or mutations in genes expressed in the posterior retina.

They are characterized predominantly by changes in the posterior pole of genetic etiology, and are often bilateral and symmetrical. The disease usually begins at an early age, has a slow progression, and leads to decreased central visual acuity and central scotoma. At present, there are no treatment modalities to prevent disease progression.

Sorsby’s macular dystrophy is inherited in an autosomal dominant fashion, manifests usually between the 4th and 5th decades of life, and is characterized by a rapid and progressive loss of central visual acuity and peripheral visual dysfunction. The phenotype includes serous and hemorrhagic detachment of the macula, interspersed with pigmented changes.

Dystrophies of the posterior pole:

  • Adult vitelliform macular dystrophy
  • Best disease
  • Autosomal recessive bestrophinopathy
  • Central areolar dystrophy
  • Cone dystrophy (early and late-onset)
  • Pattern dystrophies (e.g. Butterfly shaped)
  • Sorsby’s macular dystrophy
  • Stargardt’s disease (and other ABCA4-related dystrophies)
  • Viteliform dystrophy
  • North Carolina macular dystrophy
  • X-linked retinosquisis

Dystrophies associated with systemic disease:

  • Bassen-Kornzweig disease (includes acanthocytosis)
  • Bardet-Biedl syndrome
  • Cockayne syndrome
  • Hallgreen syndrome
  • Laurence-Moon syndrome
  • Myotonic dystrophy (Steinert)
  • Refsun syndrome
  • Saldino-Mainzer syndrome
  • Sjögren-Larsson syndrome
 
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