Long anterior lens zonules in late-onset retinal degeneration (L-ORD)

Am J Ophthalmol. 2005 Dec;140(6):1127-9. doi: 10.1016/j.ajo.2005.06.023.

Abstract

Purpose: We report new findings of peripupillary iris atrophy and long anteriorly-inserted zonules in a family with late-onset retinal degeneration (L-ORD).

Design: The proband was noted to have anterior segment findings not previously described in L-ORD, an autosomal dominant condition resulting in severe visual impairment. A mutation in the C1QTNF5 (CTRP5) gene is causal. We identified family members with anterior segment findings.

Methods: Family members were examined with slit-lamp biomicroscopy and psychophysical tests including dark adaptation and visual fields. Genetic testing for the C1QTNF5 mutation was carried out.

Results: In this family with a proven mutation in this gene, peripupillary iris atrophy and abnormally long anterior zonular insertions were present before retinal changes and visual loss.

Conclusions: Anterior segment findings have not previously been reported and along with impaired dark adaptation may serve as an early marker for this condition thus facilitating counseling and possible therapeutic intervention.

Publication types

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

MeSH terms

  • Atrophy
  • Collagen / genetics*
  • DNA Mutational Analysis
  • Dark Adaptation
  • Female
  • Humans
  • Iris / pathology*
  • Lens Diseases / diagnosis
  • Lens Diseases / genetics*
  • Ligaments / pathology*
  • Male
  • Middle Aged
  • Mutation*
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Visual Acuity
  • Visual Fields

Substances

  • C1QTNF5 protein, human
  • Collagen