Clinical and genetic heterogeneity in Slovenian patients with BEST disease

Abstract

Two previously unreported disease-associated variants in the BEST1 gene (p.Gly15Arg and p.Arg105Gly) were found in Slovenian patients with Best disease. Our data expand the mutation spectrum of the BEST1 gene and further support the broad phenotypic variability observed clinically and with optical coherence tomography (OCT) and AF imaging.

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

“…This reflected the variability in the RPGR variants and the regional genetic specificity of the RPGR patients. The latter was observed previously for other retinal dystrophy genes in Slovenia; i.e., USH2A [ 46 ], BEST1 [ 47 ], ABCA4 [ 48 ], and DRAM2 [ 49 ]. Reports on small cohorts of specific ethnicities can add important information to the known landscape of genetic variants in specific genes.…”

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

“…This reflected the variability in the RPGR variants and the regional genetic specificity of the RPGR patients. The latter was observed previously for other retinal dystrophy genes in Slovenia; i.e., USH2A [ 46 ], BEST1 [ 47 ], ABCA4 [ 48 ], and DRAM2 [ 49 ]. Reports on small cohorts of specific ethnicities can add important information to the known landscape of genetic variants in specific genes.…”

Intravitreal bevacizumab treatment for exudative choroidal neovascularisation in best vitelliform macular dystrophy

“…European Journal of Ophthalmology 33 (2) important to regularly screen all the family members who may carry a mutation in BEST 1 gene for CNV and disease progression from an early age. In paediatric patients, amblyopic therapy should be considered when treating CNV for the best outcome.…”

“…Best vitelliform macular dystrophy (BVMD) is an autosomal dominant retinal disease with incomplete penetrance and variable phenotypic expression which can affect patients at any age. 1,2 It is associated with mutations of the BEST1 gene, encoding the bestrophin-1 protein, which is assumed to be a Ca 2+ activated Cl − channel located at the basolateral membrane of retinal pigment epithelium (RPE). 1 The channel malfunction leads to the accumulation of RPE metabolic residues between RPE and Bruch's membrane causing the characteristic egg-yolk appearance in the macula.…”

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population

“…The BEST1 gene (OMIM 607854, formerly named VMD2 : OMIM 153700), which contains 11 exons and is located on chromosome 11q12-13, has been identified as the disease-causing gene for a variety of diseases called bestrophinopathies, such as BVMD, ARB, retinitis pigmentosa, and autosomal dominant vitreoretinochoroidopathy (ADVIRC) [ 13 , 14 ]. It is expressed predominantly in retinal pigment epithelium (RPE), and the mRNA encodes the 585-amino acid protein bestrophin-1 [ 15 ].…”

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

“…This reflected the variability in the RPGR variants and the regional genetic specificity of the RPGR patients. The latter was observed previously for other retinal dystrophy genes in Slovenia; i.e., USH2A [ 46 ], BEST1 [ 47 ], ABCA4 [ 48 ], and DRAM2 [ 49 ]. Reports on small cohorts of specific ethnicities can add important information to the known landscape of genetic variants in specific genes.…”

Intravitreal bevacizumab treatment for exudative choroidal neovascularisation in best vitelliform macular dystrophy

“…European Journal of Ophthalmology 33 (2) important to regularly screen all the family members who may carry a mutation in BEST 1 gene for CNV and disease progression from an early age. In paediatric patients, amblyopic therapy should be considered when treating CNV for the best outcome.…”

“…Best vitelliform macular dystrophy (BVMD) is an autosomal dominant retinal disease with incomplete penetrance and variable phenotypic expression which can affect patients at any age. 1,2 It is associated with mutations of the BEST1 gene, encoding the bestrophin-1 protein, which is assumed to be a Ca 2+ activated Cl − channel located at the basolateral membrane of retinal pigment epithelium (RPE). 1 The channel malfunction leads to the accumulation of RPE metabolic residues between RPE and Bruch's membrane causing the characteristic egg-yolk appearance in the macula.…”

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population

“…The BEST1 gene (OMIM 607854, formerly named VMD2 : OMIM 153700), which contains 11 exons and is located on chromosome 11q12-13, has been identified as the disease-causing gene for a variety of diseases called bestrophinopathies, such as BVMD, ARB, retinitis pigmentosa, and autosomal dominant vitreoretinochoroidopathy (ADVIRC) [ 13 , 14 ]. It is expressed predominantly in retinal pigment epithelium (RPE), and the mRNA encodes the 585-amino acid protein bestrophin-1 [ 15 ].…”

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

“…This reflected the variability in the RPGR variants and the regional genetic specificity of the RPGR patients. The latter was observed previously for other retinal dystrophy genes in Slovenia; i.e., USH2A [ 46 ], BEST1 [ 47 ], ABCA4 [ 48 ], and DRAM2 [ 49 ]. Reports on small cohorts of specific ethnicities can add important information to the known landscape of genetic variants in specific genes.…”

Intravitreal bevacizumab treatment for exudative choroidal neovascularisation in best vitelliform macular dystrophy

“…European Journal of Ophthalmology 33 (2) important to regularly screen all the family members who may carry a mutation in BEST 1 gene for CNV and disease progression from an early age. In paediatric patients, amblyopic therapy should be considered when treating CNV for the best outcome.…”

“…Best vitelliform macular dystrophy (BVMD) is an autosomal dominant retinal disease with incomplete penetrance and variable phenotypic expression which can affect patients at any age. 1,2 It is associated with mutations of the BEST1 gene, encoding the bestrophin-1 protein, which is assumed to be a Ca 2+ activated Cl − channel located at the basolateral membrane of retinal pigment epithelium (RPE). 1 The channel malfunction leads to the accumulation of RPE metabolic residues between RPE and Bruch's membrane causing the characteristic egg-yolk appearance in the macula.…”

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population

“…The BEST1 gene (OMIM 607854, formerly named VMD2 : OMIM 153700), which contains 11 exons and is located on chromosome 11q12-13, has been identified as the disease-causing gene for a variety of diseases called bestrophinopathies, such as BVMD, ARB, retinitis pigmentosa, and autosomal dominant vitreoretinochoroidopathy (ADVIRC) [ 13 , 14 ]. It is expressed predominantly in retinal pigment epithelium (RPE), and the mRNA encodes the 585-amino acid protein bestrophin-1 [ 15 ].…”