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

Connie June Chen; Morton F Goldberg

doi:10.3109/13816810.2014.889171

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

Ophthalmic Genet. 2016;37(1):81-5. doi: 10.3109/13816810.2014.889171. Epub 2014 Feb 24.

Authors

Connie June Chen¹, Morton F Goldberg¹

Affiliation

¹ a Wilmer Eye Institute, Ophthalmology , Baltimore , MD , USA.

PMID: 24564716
DOI: 10.3109/13816810.2014.889171

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.

Keywords: Autosomal dominant vitreoretinochoroidopathy; inherited; retinal disease.

Publication types

Case Reports

MeSH terms

Aged
Blindness / diagnosis
Choroid Diseases / diagnosis*
Choroid Diseases / genetics
Disease Progression
Electroretinography
Eye Diseases, Hereditary / diagnosis*
Eye Diseases, Hereditary / genetics
Female
Fluorescein Angiography
Geographic Atrophy / diagnosis*
Geographic Atrophy / genetics
Humans
Retinal Cone Photoreceptor Cells / pathology*
Retinal Degeneration / diagnosis*
Retinal Degeneration / genetics
Tomography, Optical Coherence
Visual Acuity / physiology
Visual Fields / physiology

Supplementary concepts

Retinal Cone Dystrophy 1
Vitreoretinochoroidopathy