Night Blindness in Sorsby's Fundus Dystrophy Reversed by Vitamin A

Nat Genet. 1995 Sep;11(1):27-32. doi: 10.1038/ng0995-27.

Abstract

Sorsby's fundus dystrophy (SFD) is an autosomal dominant retinal degeneration caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. Mechanisms of the visual loss in SFD, however, remain unknown. In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened membrane barrier between the photoreceptor layer and its blood supply. Vitamin A at 50,000 IU/d was administered orally. Within a week, the night blindness disappeared in patients at early stages of disease. Nutritional night blindness is thus part of the pathophysiology of this genetic disease and vitamin A supplementation can lead to dramatic restoration of photoreceptor function.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Bruch Membrane / drug effects
  • Bruch Membrane / metabolism
  • Bruch Membrane / pathology*
  • DNA Mutational Analysis
  • Diffusion
  • Eye Proteins / genetics*
  • Female
  • Fundus Oculi*
  • Humans
  • Male
  • Middle Aged
  • Night Blindness / drug therapy*
  • Night Blindness / etiology
  • Night Blindness / metabolism
  • Night Blindness / pathology
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Retinal Degeneration / complications*
  • Retinal Degeneration / genetics
  • Retinal Degeneration / metabolism
  • Retinal Degeneration / pathology
  • Retinal Rod Photoreceptor Cells / blood supply*
  • Scotoma / drug therapy
  • Scotoma / etiology
  • Tissue Inhibitor of Metalloproteinase-3
  • Vitamin A / administration & dosage
  • Vitamin A / pharmacokinetics
  • Vitamin A / therapeutic use*

Substances

  • Eye Proteins
  • Proteins
  • Tissue Inhibitor of Metalloproteinase-3
  • Vitamin A