Retinal degeneration associated with ectopia lentis

Ophthalmic Genet. 1999 Jun;20(2):121-6. doi: 10.1076/opge.20.2.121.2292.

Abstract

Two brothers had retinal degeneration, lens subluxation, and myopia since early life. There was no evidence of Marfan syndrome, homocystinuria, or other systemic disease. They had nystagmus, myopia, inferior dislocation of the lens, and posterior subcapsular opacities in both eyes. Fundus examination showed attenuated retinal vessels, macular atrophy with occasional pigment accumulation as clumps, and perivascular sleeves. Electroretinography revealed decreased photopic and scotopic responses. The visual fields were constricted. We believe this to be the first report of retinal degeneration with bilateral lens subluxation in a family. It appears to be inherited in an autosomal recessive fashion.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ectopia Lentis / genetics*
  • Fundus Oculi
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Retinal Degeneration / physiopathology
  • Visual Fields