Unilateral BEST1-Associated Retinopathy.
OBJECTIVE
To describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation.


METHODS
Retrospective observational case series.


METHODS



METHODS
Moorfields Eye Hospital and Great Ormond Street Hospital, London (United Kingdom).


METHODS
Five patients (10 eyes) with uniocular manifestation of BEST1 mutation causing Best disease were ascertained retrospectively from the clinical and genetic databases.


METHODS
Patients had full ophthalmologic examination, color fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, and detailed electrophysiological assessment. Genetic testing was performed.


RESULTS
All cases had a clinical appearance typical of and consistent with Best disease at various stages, except that the presentation was unilateral. The reduced electrooculogram light rise was bilateral and in the context of normal electroretinograms therefore indicates generalized dysfunction at the level of the retinal pigment epithelium.


CONCLUSIONS
Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular. The clinical and electrophysiological features described assist targeted mutational screening and alert to the potential diagnosis even when there is an atypical unilateral presentation.
Moorfields Eye Hospital, London, United Kingdom; Salisbury District Hospital, Salisbury, United Kingdom.
Rashi
R
Arora
Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, London, United Kingdom.
Kamron
K
Khan
Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, London, United Kingdom.
Melissa L
ML
Kasilian
Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, London, United Kingdom.
Rupert W
RW
Strauss
Moorfields Eye Hospital, London, United Kingdom.
Graham E
GE
Holder
Moorfields Eye Hospital, London, United Kingdom.
Anthony G
AG
Robson
Great Ormond Street Hospital, London, United Kingdom.
Dorothy A
DA
Thompson
Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, London, United Kingdom; Department of Ophthalmology, University of California San Francisco School of Medicine, San Francisco, California.
Anthony T
AT
Moore
Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, London, United Kingdom. Electronic address: michel.michaelides@ucl.ac.uk.
Michel
M
Michaelides
D000293:Adolescent; D000328:Adult; D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D004585:Electrooculography; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics*
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins