A Homozygous Frameshift Mutation in<i>BEST1</i>Causes the Classical Form of Best Disease in an Autosomal Recessive Mode

Bitner, Hanna; Mizrahi-Meissonnier, Liliana; Griefner, Gabriel; Erdinest, Inbar; Sharon, Dror; Banin, Eyal

doi:10.1167/iovs.11-7174

Cited by 42 publications

(49 citation statements)

References 24 publications

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“…As far as we are aware, in addition to this study, SD-OCT findings in young patients (equal or less than 10 years old) with Best disease were described previously by others as follows: 1 case (imaging presented) [19], in 2 cases (imaging presented) [3], in 3 cases (1 case with imaging presented) [20], and in 2 cases (imaging presented) [21]. In the study by Querques et al [20], it seems that after a period of 63 months follow-up, subretinal fluid replaced vitelliform hyper-reflective material located between the photoreceptors and the retinal pigment epithelium, in a patient who presented with the latter finding at the age of 8 years.…”

Section: Discussionsupporting

confidence: 66%

“…2 Bottom), a finding which may represent the earliest noticeable structural alteration by SD-OCT in Best disease. In 1 of the 2 cases presented by Bitner et al [3], a pronounced bilateral thickening at the level of the retinal pigment epithelium-photoreceptor interdigitation line was seen already at the age of 2.5 years. Similar imaging findings were present in 2 patients, one of whom presented in the previtelliform stage, described by Ferrara et al [21].…”

Section: Discussionmentioning

confidence: 80%

“…Mutations in the BEST1 gene can cause a variety of ocular phenotypes ranging from isolated vitelliform macular dystrophy to widespread retinal dystrophy as in autosomal recessive bestrophinopathy and further to widespread ocular manifestations as in autosomal dominant vitreoretinochoroidopathy [1][2][3][4][5]. Among these, the most common manifestation is the classical Best vitelliform macular dystrophy or Best disease, characterized by an autosomal dominant inheritance, variable penetrance and expressivity, mostly reduced electro-oculogram and vitelliform alterations in the macula.…”

Section: Introductionmentioning

confidence: 99%

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Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

Schatz

Sharon

Al-Hamdani

et al. 2015

Graefes Arch Clin Exp Ophthalmol

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Section: Discussionsupporting

confidence: 66%

Section: Discussionmentioning

confidence: 80%

Section: Introductionmentioning

confidence: 99%

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Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

Schatz

Sharon

Al-Hamdani

et al. 2015

Graefes Arch Clin Exp Ophthalmol

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“…Primer sequences for BEST1 amplification from genomic DNA were previously reported as follows: exons 2-3 and 5-11 (6) and exon 4. 4 To estimate the pathogenicity of novel missense changes, we used the following in-silico tools: Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/index.shtml) and MutationTaster (http://neurocore.charite.de/MutationTaster/index.html).…”

Section: Molecular Genetic Methodsmentioning

confidence: 99%

“…Autosomal recessive BEST1 mutations are usually associated with more severe retinal dystrophies, such as autosomal recessive bestrophinopathy (ARB) [1][2][3][4][5] and retinitis pigmentosa. 6 Best disease is considered a rare genetic disease, but the prevalence in still unknown.…”

Section: Introductionmentioning

confidence: 99%

Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark

Bitner

Schatz

Mizrahi-Meissonnier

et al. 2012

American Journal of Ophthalmology

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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

et al. 2020

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IMPORTANCE Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited.OBJECTIVE To report a detailed phenotypic and genetic analysis of a patient cohort with sequence variations in BEST1. DESIGN, SETTING, AND PARTICIPANTSThis retrospective case series took place at the Oxford Eye Hospital in Oxford, UK. Thirty-six patients from a single center with disease-causing sequence variations in BEST1 from 25 different families were analyzed. Data were collected from November 2017 to June 2018, and analysis began April 2018.MAIN OUTCOMES AND MEASURES Results of ocular phenotyping and genetic testing using targeted next-generation sequencing to identify BEST1 sequence variations. RESULTSThirty-six patients from 25 families with disease-causing sequence variations in BEST1 were included. Of 36 patients, 20 (55.6%) were female. Three distinct clinical phenotypes were identified: autosomal recessive bestrophinopathy (ARB), best vitelliform macular dystrophy (BVMD), and adult-onset vitelliform macular dystrophy. The ARB phenotype group comprised 18 patients from 9 families with age in years at symptom onset ranging from less than 10 to 40s. All patients showed a common phenotype of fundus autofluorescence abnormalities, and spectral-domain optical coherence tomography features were similar in all patients with schitic and cystoid changes. A phenotype of a beaten metallic retinal appearance extending from the mid periphery to the far periphery was identified in 8 patients. Four patients from 1 family with ARB were previously reported to have autosomal recessive retinitis pigmentosa but were reclassified as having ARB as part of this study. The BVMD phenotype group comprised 16 patients from 14 families with age at symptom onset ranging from less than 10 to 70s. Fundus features were localized to the macula and consistent with the stage of BVMD. In the adult-onset vitelliform macular dystrophy phenotype group, the age in years at symptom onset varied from 50s to 70s in 2 patients from 2 families. Fundus features included small vitelliform lesions. Where available, electro-oculogram results demonstrated a reduced or absent light rise in all patients with ARB and BVMD. Genetic testing identified 22 variants in BEST1.CONCLUSIONS AND RELEVANCE These findings support the notion that ARB, BVMD, and adult-onset vitelliform macular dystrophy are clinically distinct and recognizable phenotypes and suggest that the association of autosomal recessive retinitis pigmentosa with sequence variations in BEST1 should be rereviewed.

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A Homozygous Frameshift Mutation inBEST1Causes the Classical Form of Best Disease in an Autosomal Recessive Mode

Abstract: We show here that the typical vitelliform phenotype of Best disease, usually transmitted in an autosomal dominant fashion, can be inherited as an autosomal recessive disease due to homozygosity for a frameshift mutation.

Cited by 42 publications

References 24 publications

Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

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