Familial nanophthalmos

Am J Ophthalmol. 1976 Mar;81(3):300-6. doi: 10.1016/0002-9394(76)90244-0.

Abstract

Four members of one sibship had microphthalmos with fundi having an irregular "rippled* appearance with alternating light and dark red coloration. Fluorescein angiography revealed patchy choriocapillaris perfusion with unusually rapid diffusion into the retina. Genealogic and geographic data strongly suggest autosomal-recessive inheritance. Only one patient developed glaucoma. The unique combination of abnormalities in this family suggests that a new recessive mutation may be responsible.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Female
  • Fundus Oculi
  • Humans
  • Microphthalmos / genetics*
  • Pedigree