当前位置: X-MOL 学术BMJ Open Ophthalmol. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree
BMJ Open Ophthalmology ( IF 2.0 ) Pub Date : 2021-10-01 , DOI: 10.1136/bmjophth-2021-000813
Mariana Matioli da Palma 1, 2 , Maurício E Vargas 1 , Amanda Burr 1 , Rui Chen 3, 4 , Mark E Pennesi 1 , Richard G Weleber 1 , Paul Yang 5
Affiliation  

Objective Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is associated with pathogenic variants in BEST1 , which typically causes visual impairment in the late stage of disease. We present a pedigree with variable expressivity and the youngest case in the literature with visual impairment in early childhood. Methods and analysis This is a retrospective, observational, case series describing multigenerational members of one family affected with ADVIRC. Patients underwent examination, ultra-widefield fundus photography and angiography, optical coherence tomography, full-field electroretinography (ffERG) and full-field perimetry. Results Three affected members of the pedigree, one from each successive generation, were found to harbour a mutation, c.715G>A:p.Val239Met, in BEST1 . The proband characterised in this report is, to our knowledge, the youngest documented case of ADVIRC in early childhood. Yet, this patient has the most severe retinal dysfunction compared with the father and paternal grandmother, whom exhibit classic characteristics of ADVIRC. Longitudinal data from the paternal grandmother showed that there was a rapid decline in ffERG responses (photopic decline worse than scotopic) from the fourth to fifth decade of life, which correlated with severe concentric constriction of visual fields. Conclusion This multigenerational case series provides new insights into the ADVIRC disease spectrum and rate of progression. While ADVIRC typically causes a slowly progressive disease, we show that variable phenotypic expressivity is possible among affected members of the same family with the same mutation in BEST1 . Thus, ADVIRC must also be considered in the differential diagnosis of paediatric patients with severe retinal dystrophy in early childhood. Data are available upon reasonable request.

中文翻译:

三代家系中 BEST1 相关常染色体显性玻璃体视网膜脉络膜病变 (ADVIRC) 的可变表达

目的 常染色体显性遗传性玻璃体视网膜脉络膜病变 (ADVIRC) 与 BEST1 的致病性变异相关,通常会导致疾病晚期的视力障碍。我们提出了一个具有不同表现力的谱系,以及文献中最年轻的儿童早期视力障碍病例。方法和分析 这是一个回顾性、观察性病例系列,描述了一个受 ADVIRC 影响的家庭的多代成员。患者接受了检查、超广角眼底摄影和血管造影、光学相干断层扫描、全视野视网膜电图(ffERG)和全视野视野检查。结果 家谱中的三名受影响成员(每一代都有一名)被发现在 BEST1 中携带突变 c.715G>A:p.Val239Met。据我们所知,本报告中描述的先证者是有记录的最年轻的儿童早期 ADVIRC 病例。然而,与父亲和祖母相比,该患者的视网膜功能障碍最为严重,表现出 ADVIRC 的典型特征。来自祖母的纵向数据显示,从四岁到五岁,ffERG 反应迅速下降(明视下降比暗视下降更严重),这与视野的严重同心收缩相关。结论 这个多代病例系列为 ADVIRC 疾病谱和进展速度提供了新的见解。虽然 ADVIRC 通常会导致缓慢进展的疾病,但我们表明,在 BEST1 具有相同突变的同一家族的受影响成员中,可能存在不同的表型表达。因此,在儿童早期患有严重视网膜营养不良的儿科患者的鉴别诊断中也必须考虑 ADVIRC。数据可根据合理要求提供。
更新日期:2021-10-22
down
wechat
bug