da Palma Mariana Matioli, Vargas Maurício E, Burr Amanda, Chen Rui, Pennesi Mark E, Weleber Richard G, Yang Paul
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Department of Ophthalmology and Visual Sciences, Federal University of Sao Paulo Department of Ophthalmology and Visual Sciences, Sao Paulo, Brazil.
BMJ Open Ophthalmol. 2021 Oct 21;6(1):e000813. doi: 10.1136/bmjophth-2021-000813. eCollection 2021.
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is associated with pathogenic variants in , 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.
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.
Three affected members of the pedigree, one from each successive generation, were found to harbour a mutation, c.715G>A:p.Val239Met, in . 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.
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 . Thus, ADVIRC must also be considered in the differential diagnosis of paediatric patients with severe retinal dystrophy in early childhood.
常染色体显性遗传性玻璃体视网膜脉络膜病变（ADVIRC）与[基因名称]中的致病变异相关，该病通常在疾病晚期导致视力损害。我们展示了一个具有可变表达性的家系，以及文献中最年幼的在儿童早期即出现视力损害的病例。
这是一项回顾性观察性病例系列研究，描述了一个受ADVIRC影响的多代家系成员。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。
在家系的三名受影响成员中，每一代各有一名被发现携带[基因名称]中的一个突变，即c.715G>A:p.Val239Met。据我们所知，本报告中描述的先证者是文献记载中最年幼的儿童期ADVIRC病例。然而，与表现出ADVIRC典型特征的父亲和祖母相比，该患者的视网膜功能障碍最为严重。来自祖母的纵向数据显示，从生命的第四个十年到第五个十年，ffERG反应迅速下降（明视觉下降比暗视觉更严重），这与视野严重向心性收缩相关。
这个多代病例系列为ADVIRC的疾病谱和进展速度提供了新的见解。虽然ADVIRC通常导致一种缓慢进展的疾病，但我们表明，在具有相同[基因名称]突变的同一家系受影响成员中，可变的表型表达是可能的。因此，在对儿童早期患有严重视网膜营养不良的儿科患者进行鉴别诊断时，也必须考虑ADVIRC。
