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Unilateral BEST1 -Associated Retinopathy

View Article: PubMed Central - PubMed

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.

Methods: 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.

No MeSH data available.


Related in: MedlinePlus

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.
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fig3: 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.

Mentions: A 16-year-old male subject presented with reduced vision in his right eye (Table). His father had been diagnosed with Best disease at an early age based on the presence of bilateral vitelliform lesions, but remained asymptomatic until the age of 30. Two paternal aunts were known to have Best disease. Best-corrected logMAR visual acuity was -0.1 in the right eye and 0.0 in the left. Funduscopy, fundus autofluorescence, and spectral-domain optical coherence tomography of the right eye revealed macular atrophy, yellow subretinal and subretinal pigment epithelium deposition, and subretinal fluid (FigureĀ 3). The left eye was normal on funduscopy and imaging. The pattern electroretinogram was significantly reduced in the right eye but normal in the left eye. Full-field electroretinograms were normal in both eyes. Electrooculogram light rise was subnormal in both eyes. BEST1 screening identified that both father and son were heterozygous for a previously reported sequence variant, c.47C>T, p.Ser16Phe, in exon 2 of BEST1.7


Unilateral BEST1 -Associated Retinopathy
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.
© Copyright Policy - CC BY
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5016077&req=5

fig3: 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.
Mentions: A 16-year-old male subject presented with reduced vision in his right eye (Table). His father had been diagnosed with Best disease at an early age based on the presence of bilateral vitelliform lesions, but remained asymptomatic until the age of 30. Two paternal aunts were known to have Best disease. Best-corrected logMAR visual acuity was -0.1 in the right eye and 0.0 in the left. Funduscopy, fundus autofluorescence, and spectral-domain optical coherence tomography of the right eye revealed macular atrophy, yellow subretinal and subretinal pigment epithelium deposition, and subretinal fluid (FigureĀ 3). The left eye was normal on funduscopy and imaging. The pattern electroretinogram was significantly reduced in the right eye but normal in the left eye. Full-field electroretinograms were normal in both eyes. Electrooculogram light rise was subnormal in both eyes. BEST1 screening identified that both father and son were heterozygous for a previously reported sequence variant, c.47C>T, p.Ser16Phe, in exon 2 of BEST1.7

View Article: PubMed Central - PubMed

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.

Methods: 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.

No MeSH data available.


Related in: MedlinePlus