Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC)

Am J Ophthalmol. 2006 May;141(5):940-3. doi: 10.1016/j.ajo.2005.11.041.


Purpose: To describe a patient with clinically documented autosomal dominant vitreoretinochoroidopathy who has had 11 years of progression from initial description and now demonstrates evidence of central cone dysfunction.

Design: Case report.

Methods: The patient is a member of a pedigree described in the literature. This is a case report format that follows standard clinical studies.

Results: The patient had normal full field electroretinography results but focally reduced multifocal electroretinography results and evidence of macular atrophy on optical coherence tomography.

Conclusion: Autosomal dominant vitreoretinochoroidopathy may result in central cone dysfunction because of macular atrophy late in the course of the disease, although electroretinography and visual fields remain stable over extended follow-up periods.

Publication types

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

MeSH terms

  • Aged
  • Choroid Diseases / genetics*
  • Electroretinography
  • Eye Diseases / genetics*
  • Eye Diseases, Hereditary / physiopathology*
  • Female
  • Genes, Dominant
  • Humans
  • Retinal Cone Photoreceptor Cells / physiopathology*
  • Retinal Diseases / genetics*
  • Vision Disorders / physiopathology
  • Visual Field Tests
  • Visual Fields
  • Vitreous Body*