Cataract in early onset and classic Cockayne syndrome

Ophthalmic Genet. 1997 Dec;18(4):193-7. doi: 10.3109/13816819709041434.

Abstract

Purpose: To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form.

Methods: A complete ophthalmic evaluation was performed in four affected patients, one with the early onset and three with classic CS.

Results: We report cataract in all patients and glaucoma in one, the latter never previously reported in CS.

Conclusion: CS should be considered in babies with low birth weight and congenital cataract.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Cataract / complications*
  • Cataract / genetics
  • Cataract / pathology
  • Cataract Extraction
  • Child
  • Child, Preschool
  • Cockayne Syndrome / complications*
  • Cockayne Syndrome / genetics
  • Cockayne Syndrome / pathology
  • Female
  • Glaucoma / complications
  • Humans
  • Male