Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Connie June Chen, Morton F. Goldberg

Research output: Contribution to journalArticle

Abstract

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare inherited ocular disease associated with distinct mutations in the BEST1 gene. Typically, patients have only mild visual impairment, and rarely do patients have moderate or severe visual impairment, often as a result of vitreous hemorrhage. We now describe progressive central macular atrophy and cone dysfunction leading to visual loss in an elderly ADVIRC patient 33 years after initial presentation.

Original languageEnglish (US)
Pages (from-to)81-85
Number of pages5
JournalOphthalmic genetics
Volume37
Issue number1
DOIs
StatePublished - Jan 2 2016

    Fingerprint

Keywords

  • Autosomal dominant vitreoretinochoroidopathy
  • inherited
  • retinal disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Cite this