Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance

Am J Ophthalmol. 1982 Nov;94(5):634-49. doi: 10.1016/0002-9394(82)90009-5.

Abstract

A family in southwest Finland with bilateral hemorrhagic degeneration of the retina and choroid was followed up for more than 16 years. The maculas showed subretinal hemorrhages, glial cicatrization of the outer retinal layers, and profound choroidal atrophy, particularly in the advanced stages of the disease. Fluorescein angiography demonstrated leakage through the pigment layer in the retinal tissue. The age of onset varied from the second to the fourth decade. The clinical pattern was similar to Sorsby's pseudoinflammatory dominant fundus dystrophy, except that the disorder appeared earlier in this Finnish family, the members of which show secondary dyschromatopsia, many deep hyaloid bodies in the retina, disturbed dark adaptation (1 to 4 log units), subnormal light-peak/dark-trough ratios, progressive myopia, and a mode of inheritance which is probably autosomal recessive. The affected parents are consanguineous in many ways and each of their eight children is affected.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Fluorescein Angiography
  • Fundus Oculi*
  • Genes, Recessive
  • Humans
  • Iris
  • Male
  • Middle Aged
  • Myopia / genetics
  • Retinal Degeneration / genetics*
  • Retinal Hemorrhage / genetics
  • Retinitis / genetics
  • Transillumination
  • Uveal Diseases / genetics