Format

Send to

Choose Destination
Retina. 2018 Feb;38(2):379-386. doi: 10.1097/IAE.0000000000001523.

NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY.

Author information

1
University College London Institute of Ophthalmology, University College London, London, United Kingdom.
2
Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom.
3
Department of Ophthalmology, Leeds Institute of Molecular Medicine, St James' University Hospital, Leeds, United Kingdom.
4
Ophthalmology Department, University of California San Francisco Medical School, San Francisco, California.

Abstract

PURPOSE:

To evaluate the electrooculogram (EOG) in a large series of patients with Best disease and autosomal recessive bestrophinopathy.

METHODS:

A retrospective review of consecutive cases at Moorfields Eye Hospital, London, United Kingdom. Patients with Best disease or autosomal recessive bestrophinopathy who, after electrophysiologic testing, had a normal or atypical EOG light rise were identified. Main outcome measure was EOG amplitude, clinical phenotype and genotype.

RESULTS:

One hundred thirteen patients were identified with likely disease-causing sequence variants in BEST1 (99 Best disease and 14 autosomal recessive bestrophinopathy). Electrooculograms had been performed in 75 patients. Twenty patients (27%) had no detectable light rise (Arden ratio of 100%) and 49 (65%) had Arden ratios of between 100% to 165%. Six patients (8%) were found to have an EOG light rise of >165%. No cases demonstrated significant interocular asymmetry in EOG amplitude.

CONCLUSION:

The current work provides significant clinical evidence that the EOG phenotype in Best disease and autosomal recessive bestrophinopathy is more variable than currently appreciated. As a normal EOG may occur in the presence of a classical fundus appearance, the consequences of BEST1 mutation may be independently expressed, possibly mediated through differential effects on intracellular calcium homeostasis.

PMID:
28590961
DOI:
10.1097/IAE.0000000000001523
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center