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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 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.
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fig5: 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.

Mentions: A 27-year-old male patient was reviewed with longstanding poor vision in the right eye (Table). Best-corrected logMAR visual acuity was hand movements in the right eye and 0.0 in the left. Fundus examination showed a macular scar in the right eye, but was normal on the left. Fundus autofluorescence imaging showed a large area of macular hypofluorescence and corresponding area of subretinal fibrosis on spectral-domain optical coherence tomography (FigureĀ 5). Full-field electroretinograms were normal bilaterally. Unfortunately, electrooculography was technically unsatisfactory on 2 occasions. His mother and sister were reported to be affected but family members were not available for examination. Genetic testing revealed a heterozygous previously reported variant in BEST1, c.892T>G, p.Phe298Val. Other mutations of codon 298 have previously been reported.9, 10


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

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

fig5: 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.
Mentions: A 27-year-old male patient was reviewed with longstanding poor vision in the right eye (Table). Best-corrected logMAR visual acuity was hand movements in the right eye and 0.0 in the left. Fundus examination showed a macular scar in the right eye, but was normal on the left. Fundus autofluorescence imaging showed a large area of macular hypofluorescence and corresponding area of subretinal fibrosis on spectral-domain optical coherence tomography (FigureĀ 5). Full-field electroretinograms were normal bilaterally. Unfortunately, electrooculography was technically unsatisfactory on 2 occasions. His mother and sister were reported to be affected but family members were not available for examination. Genetic testing revealed a heterozygous previously reported variant in BEST1, c.892T>G, p.Phe298Val. Other mutations of codon 298 have previously been reported.9, 10

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