Alport's syndrome with bilateral macular hole

Acta Ophthalmol Scand. 1996 Feb;74(1):77-80. doi: 10.1111/j.1600-0420.1996.tb00688.x.

Abstract

In this study 8 patients with Alport's syndrome are presented. The ocular manifestations of these patients were retinal flecks, macular depigmentation, microspherophakia and anterior lenticonus. One patient revealed bilateral macular hole which was an unusual feature. Four patients had renal biopsies with the characteristic electron microscopic changes of the disease. According to these findings our conclusion is that Alport's syndrome is a disorder of selected basement membranes.

MeSH terms

  • Adult
  • Basement Membrane / ultrastructure
  • Biopsy, Needle
  • Child
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Kidney / ultrastructure
  • Lens Diseases / complications
  • Lens Diseases / pathology
  • Male
  • Microscopy, Electron
  • Nephritis, Hereditary / complications*
  • Nephritis, Hereditary / pathology
  • Retinal Diseases / complications
  • Retinal Diseases / pathology
  • Retinal Perforations / complications*
  • Retinal Perforations / pathology