Autosomal dominant crystalline dystrophy

Ophthalmology. 1991 May;98(5):658-65. doi: 10.1016/s0161-6420(91)32237-1.

Abstract

A black woman was identified with a tapetoretinal degeneration with sparkling intraretinal crystals, retinal pigment epithelial and choroidal atrophy, night blindness, color vision abnormalities, and paracentral scotomas. This constellation of findings is most consistent with the diagnosis of Bietti's crystalline dystrophy. Eight other family members were identified with intraretinal crystals similar to those seen in the proband but in varying degrees of progression. Transmission electron microscopy of circulating lymphocytes in several patients demonstrated crystals and granular osmophilic material of unknown composition contained within abnormal lysosomes. These crystals are similar in appearance and location to those seen in cholesterol ester storage disease. This family demonstrates an autosomal dominant inheritance pattern, as well as other differences from classic Bietti's crystalline dystrophy. The authors, therefore, suggest that this new entity be named autosomal dominant crystalline dystrophy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Crystallization
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Lymphocytes / ultrastructure
  • Male
  • Middle Aged
  • Pedigree
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology
  • Visual Acuity
  • Visual Fields