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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 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.
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fig1: 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.

Mentions: A 12-year-old boy (Case 1, Table) presented to the eye clinic with recent onset of blurred distance vision in the left eye. Best-corrected logMAR visual acuity was 0.02 in the right eye and 0.06 in the left. Near vision was N5 in each eye and no distortion was reported using an Amsler grid. There was a family history of macular dystrophy affecting his grandmother, who was registered blind, and his maternal uncle, who maintained driving vision. Funduscopy of the left eye showed a yolk-like elevated lesion at the central macula that was hyperautofluorescent on fundus autofluorescence imaging (Figure 1). Spectral-domain optical coherence tomography revealed subretinal fluid in addition to the subretinal deposit. Fundus examination, fundus autofluorescence, and spectral-domain optical coherence tomography of the right eye were normal. His mother (Case 2, Table) had similar uniocular features on funduscopy at the posterior pole of the right eye but was asymptomatic. Fundus autofluorescence showed bilateral, relatively symmetrical areas of increased autofluorescence in the nasal retina, but spectral-domain optical coherence tomography abnormality was present only at the right macula (Figure 2). Electrophysiological testing showed absence of the electrooculogram light rise in both eyes of both mother and son. Full-field electroretinography was normal in both patients. Pattern electroretinograms were within normal limits in both eyes of the son, showing minimal interocular difference with lower amplitudes in the left eye using a 15-degree field stimulus. Pattern electroretinography was not performed in Case 2 (mother). In both patients, genetic testing identified a previously reported heterozygous sequence variant, c.692G>C, p.Ser231Thr, in BEST1.6


Unilateral BEST1 -Associated Retinopathy
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.
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getmorefigures.php?uid=PMC5016077&req=5

fig1: 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.
Mentions: A 12-year-old boy (Case 1, Table) presented to the eye clinic with recent onset of blurred distance vision in the left eye. Best-corrected logMAR visual acuity was 0.02 in the right eye and 0.06 in the left. Near vision was N5 in each eye and no distortion was reported using an Amsler grid. There was a family history of macular dystrophy affecting his grandmother, who was registered blind, and his maternal uncle, who maintained driving vision. Funduscopy of the left eye showed a yolk-like elevated lesion at the central macula that was hyperautofluorescent on fundus autofluorescence imaging (Figure 1). Spectral-domain optical coherence tomography revealed subretinal fluid in addition to the subretinal deposit. Fundus examination, fundus autofluorescence, and spectral-domain optical coherence tomography of the right eye were normal. His mother (Case 2, Table) had similar uniocular features on funduscopy at the posterior pole of the right eye but was asymptomatic. Fundus autofluorescence showed bilateral, relatively symmetrical areas of increased autofluorescence in the nasal retina, but spectral-domain optical coherence tomography abnormality was present only at the right macula (Figure 2). Electrophysiological testing showed absence of the electrooculogram light rise in both eyes of both mother and son. Full-field electroretinography was normal in both patients. Pattern electroretinograms were within normal limits in both eyes of the son, showing minimal interocular difference with lower amplitudes in the left eye using a 15-degree field stimulus. Pattern electroretinography was not performed in Case 2 (mother). In both patients, genetic testing identified a previously reported heterozygous sequence variant, c.692G>C, p.Ser231Thr, in BEST1.6

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