Clinical and genetic heterogeneity in Slovenian patients with <scp>BEST</scp> disease

Glavač, Damjan; Jarc-Vidmar, Martina; Vrabec, Katarina; Ravnik‐Glavač, Metka; Fakin, Ana; Hawlina, Marko

doi:10.1111/aos.13202

Cited by 14 publications

(5 citation statements)

References 30 publications

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“…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.…”

Section: Discussionsupporting

confidence: 78%

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

Hadalin

Buscarino

Sajovic

et al. 2023

IJMS

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Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patients from 10 families with retinitis pigmentosa (RP) or cone/cone-rod dystrophy (COD/CORD) are reported. RP (eight families) was associated with two already known (p.(Ser407Ilefs*46) and p.(Glu746Argfs*23)) and five novel variants (c.1245+704_1415-2286del, p.(Glu660*), p.(Ala153Thr), c.1506+1G>T, and p.(Arg780Serfs*54)). COD (two families) was associated with p.(Ter1153Lysext*38). The median age of onset in males with RP (N = 9) was 6 years. At the first examination (median age of 32 years), the median best corrected visual acuity (BCVA) was 0.30 logMAR, and all patients had a hyperautofluorescent ring on fundus autofluorescence (FAF) encircling preserved photoreceptors. At the last follow-up (median age of 39 years), the median BCVA was 0.48 logMAR, and FAF showed ring constriction transitioning to patch in 2/9. Among females (N = 6; median age of 40 years), two had normal/near-normal FAF, one had unilateral RP (male pattern), and three had a radial and/or focal pattern of retinal degeneration. After a median of 4 years (4–21) of follow-up, 2/6 exhibited disease progression. The median age of onset in males with COD was 25 years. At first examination (median age of 35 years), the median BCVA was 1.00 logMAR, and all patients had a hyperautofluorescent FAF ring encircling foveal photoreceptor loss. At the last follow-up (median age of 42 years), the median BCVA was 1.30 logMAR, and FAF showed ring enlargement. The majority of the identified variants (75%; 6/8) had not been previously reported in other RPGR cohorts, which suggested the presence of distinct RPGR alleles in the Slovenian population.

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Section: Discussionsupporting

confidence: 78%

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

Hadalin

Buscarino

Sajovic

et al. 2023

IJMS

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“…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 ].…”

Section: Introductionmentioning

confidence: 99%

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

Gao

Tian

et al. 2018

BioMed Research International

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Mutations in the gene BEST1 usually cause bestrophinopathies, such as the rare progressive diseases Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). This study aimed to investigate the clinical characteristics of patients with BVMD or ARB carrying BEST1 mutations. A total of 12 probands including 9 patients with a clinical diagnosis of BVMD and 3 patients with a clinical diagnosis of ARB were recruited for genetics analysis. All patients underwent detailed ophthalmic examination. All coding exons of the BEST1 gene were screened by PCR-based DNA sequencing. Programs of PolyPhen-2, SIFT, and MutationTaster were used to analyze the potential pathogenicity of the mutations in BEST1. In the 9 unrelated patients with BVMD, one heterozygous BEST1 mutation was revealed in 8 patients and two compound heterozygous mutations in 1 patient. In the 3 unrelated patients with ARB, two compound heterozygous mutations were revealed in 2 patients and three compound heterozygous mutations in 1 patient. Molecular analyses identified a total of 15 mutations, including 3 novel mutations (c.424A>G p.S142G, c.436G>A p.A146T, and c.155T>C p.L52P). Antivascular endothelial growth factor (VEGF) drugs were given to two affected eyes, especially those also exhibiting choroidal neovascularization (CNV), and no serious adverse events occurred. Our study indicates that there is wide genotypic and phenotypic variability in patients with BVMD or ARB in China. The screening of BEST1 gene is significant for the precise diagnosis of BVMD and ARB.

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“…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.…”

Section: Np48mentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Jarc-Vidmar

Sega

Jaki-Mekjavic

2021

European Journal of Ophthalmology

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Purpose To describe results of intravitreal bevacizumab treatment of the secondary choroidal neovascularisation in Best vitelliform macular dystrophy in an adult and paediatric patient, and present the management of three asymptomatic patients with confirmed BEST1 gene mutation. Case series description Five patients from the same family with the Best vitelliform macular dystrophy are presented. In two patients (aged 63 and 4 years) secondary choroidal neovascularisation caused a rapid decline in visual acuity. In the adult patient with advanced Best vitelliform macular dystrophy, visual acuity did not improve despite eight intravitreal bevacizumab injections to the right eye. The formation of a central scar and rapid reoccurrence of choroidal neovascularisation three months after completing the initial treatment affected the outcome. As for the paediatric patient with bilateral choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy, a complete recovery of visual acuity was observed after two (left eye) and three (right eye) bevacizumab injections, with adjunctive amblyopia treatment. The other three patients with an abnormal electrooculogram reported no visual problems during more than 10 years of follow-up. Minimal changes were seen on optical coherence tomography in the youngest patient. Conclusions Intravitreal bevacizumab seems to be an effective treatment for exudative choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy; however, it may not be beneficial in the advanced stages of Best vitelliform macular dystrophy. It is important to regularly screen all family members with an abnormal electrooculogram and confirmed mutation for vitelliform changes and choroidal neovascularisation from an early age. The decision for anti-vascular endothelial growth factor treatment should be made on a case-to-case basis as complications may arise.

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Clinical and genetic heterogeneity in Slovenian patients with BEST disease

Cited by 14 publications

References 30 publications

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

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

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

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

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