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Case Reports
. 2016 Sep:169:24-32.
doi: 10.1016/j.ajo.2016.05.024. Epub 2016 Jun 7.

Unilateral BEST1-Associated Retinopathy

Rashi Arora  1 , Kamron Khan  2 , Melissa L Kasilian  2 , Rupert W Strauss  2 , Graham E Holder  3 , Anthony G Robson  3 , Dorothy A Thompson  4 , Anthony T Moore  5 , Michel Michaelides  6
Affiliations
Case Reports

Unilateral BEST1-Associated Retinopathy

Rashi Arora et al. Am J Ophthalmol. 2016 Sep.

Abstract

Purpose: To describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation.

Design: Retrospective observational case series.

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

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

Main outcome measures: 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.

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Figures

Figure 1
Figure 1
Multimodal imaging of (Left column) the right eye and (Right column) the left eye of patient (Case 1) with unilateral BEST1-associated retinopathy. Color fundus photographs (Top row), infrared reflectance images (Second row), horizontal B-scans derived from spectral-domain optical coherence tomography through the foveal region (Third row), and fundus autofluorescence images (Bottom row) of both eyes are shown. The left eye presents with a typical yolk-like elevated lesion at the central macula that was hyperautofluorescent on fundus autofluorescence; spectral-domain optical coherence tomography revealed subretinal fluid in addition to the subretinal deposit.
Figure 2
Figure 2
Multimodal imaging of (Left column) the right eye and (Right column) the left eye of patient (Case 2; mother of patient in Case 1) with unilateral BEST1-associated retinopathy. Color fundus photography (Top row), infrared reflectance imaging (Second row), horizontal B-scan through the foveal region by spectral-domain optical coherence tomography (Third row), and fundus autofluorescence (Bottom row) are presented. Subretinal deposit as detected by spectral-domain optical coherence tomography was present only in the right macula. Fundus autofluorescence showed bilateral, relatively symmetrical areas of increased autofluorescence in the nasal retina.
Figure 3
Figure 3
Multimodal imaging of (Left column) the right eye and (Right column) the left eye of patient (Case 3) with unilateral BEST1-associated retinopathy. Infrared reflectance imaging (Top row), horizontal B-scan through the foveal region by spectral-domain optical coherence tomography (Middle row), and fundus autofluorescence (Bottom row) are shown. The right eye shows macular atrophy, yellow subretinal and subretinal pigment epithelium deposition, and subretinal fluid.
Figure 4
Figure 4
Multimodal imaging of (Left column) the right eye and (Right column) the left eye of patient (Case 4) with unilateral BEST1-associated retinopathy. Color fundus photographs (Top row), infrared reflectance images (Second row), horizontal B-scans derived from spectral-domain optical coherence tomography through the foveal region (Third row), and fundus autofluorescence images (Bottom row) of both eyes are presented. The right eye shows vitelliform changes associated with increased autofluorescence on fundus autofluorescence and subretinal and subretinal pigment epithelium deposition on spectral-domain optical coherence tomography.
Figure 5
Figure 5
Multimodal imaging of (Left column) the right eye and (Right column) the left eye of patient (Case 5) with unilateral BEST1-associated retinopathy. Color fundus photographs (Top row), infrared reflectance images (Second row), horizontal B-scans derived from spectral-domain optical coherence tomography through the foveal region (Third row), and fundus autofluorescence images (Bottom row) of both eyes are presented. In color fundus photography, there is a macular scar in the right eye that corresponds to a large area of macular hypoautofluorescence on fundus autofluorescence imaging and subretinal fibrosis on spectral-domain optical coherence tomography.
See this image and copyright information in PMC

Comment in

  • Unilateral BEST1-Associated Retinopathy.
    Cicinelli MV, Sacconi R, Querques G. Cicinelli MV, et al. Am J Ophthalmol. 2017 Jan;173:148-149. doi: 10.1016/j.ajo.2016.08.040. Epub 2016 Nov 18. Am J Ophthalmol. 2017. PMID: 27871622 No abstract available.

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