Abstract
PurposeTo describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation.DesignRetrospective observational case series.MethodsSetting: 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.ResultsAll 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.ConclusionsMutation 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.
Highlights
To describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation
Best disease is an early-onset macular dystrophy typically characterized by bilateral accumulation of subretinal deposit resulting from heterozygous mutations in the BEST1 gene (OMIM 153700)
The retinal changes are typically bilateral and relatively symmetrical, but rarely, inherited BEST1 mutations may be associated with unilateral maculopathy, with only 3 cases reported in the literature to date.[1,2]
Summary
To describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation. B EST DISEASE WAS FIRST DESCRIBED BY ADAMS IN 1883, but was named after Dr Friedrich Best, who identified an autosomal dominant mode of inheritance after examining 7 members of a pedigree segregating this disorder.[1] Best disease (vitelliform macular dystrophy) is an early-onset macular dystrophy typically characterized by bilateral accumulation of subretinal deposit resulting from heterozygous mutations in the BEST1 gene (OMIM 153700). It is a slowly progressive macular dystrophy with usual onset in childhood but sometimes in later teenage years. The retinal changes are typically bilateral and relatively symmetrical, but rarely, inherited BEST1 mutations may be associated with unilateral maculopathy, with only 3 cases reported in the literature to date.[1,2] The present report describes a series of 5 molecularly proven cases with unilateral presentation of Best disease
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