Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2018 Sep;93(9):454-457.
doi: 10.1016/j.oftal.2018.03.006. Epub 2018 May 28.

Atypical presentation of Best Disease

[Article in English, Spanish]
Ó Gutiérrez-Montero  1 , J A Reche-Sainz  2 , M J Peral Ortiz de la Torre  1 , N Toledano-Fernández  1
Affiliations
Case Reports

Atypical presentation of Best Disease

[Article in English, Spanish]
Ó Gutiérrez-Montero et al. Arch Soc Esp Oftalmol (Engl Ed). 2018 Sep.

Abstract

Clinical case: A 43-year-old man was treated for reduced visual acuity, initially attributed to strabismic amblyopia. On fundus examination, bilateral neurosensory detachments (NSD) were observed in posterior pole, surrounded by deposits of lipofuscin. His 3-year-old son was also examined and circumscribed NSD was observed with the presence of pseudohypopyon in OD and a fibrosis scar in OS. The Arden ratio were decreased in electrooculography (EOG) in both patients, and genetic studies revealed a single mutation of the BEST1 gene.

Discussion: The existence of extensive bilateral NSD may be an unusual form of presentation of Best disease. Family history, EOG, and genetic study supported this diagnosis.

Keywords: Best disease; Best vitelliform macular dystrophy; Desprendimiento neurosensorial de la retina; Distrofia macular viteliforme de Best; Enfermedad de Best; Neurosensory retinal detachment.

PubMed Disclaimer

Publication types

LinkOut - more resources