Brief report
Central Cone Dysfunction in Autosomal Dominant Vitreoretino Choroidopathy (ADVIRC)

https://doi.org/10.1016/j.ajo.2005.11.041Get rights and content

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.

References (5)

  • S.J. Kaufman et al.

    Autosomal dominant vitreoretinochoroidopathy (ADVIRC)

    Arch Ophthalmol

    (1982)
  • E. Traboulsi et al.

    Autosomal dominant vitreoretinochoroidopathyreport of the third family

    Arch Ophthalmol

    (1993)
There are more references available in the full text version of this article.

Cited by (12)

  • Bestrophin 1 and retinal disease

    2017, Progress in Retinal and Eye Research
    Citation Excerpt :

    Further studies have shown that there can be a progression of the fundus findings with downstream development of central cone dysfunction. Similar progression in the posterior pole has also been noted (Chen and Goldberg, 2016; Chen et al., 2016; Oh and Vallar, 2006). In 2004, Yardley et al. described five families with ADVIRC and nanophthalmos that were genetically linked to mutations in BEST1 (Yardley et al., 2004).

  • Macular Dystrophies

    2012, Retina Fifth Edition
  • Imaging in inherited retinal disorders

    2021, European Journal of Ophthalmology
View all citing articles on Scopus

Supported in part by a Career Development Award from the Foundation Fighting Blindness (K.T.O.).

View full text