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先天性静止性夜盲症:沙特阿拉伯疾病谱的更新与回顾。

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

机构信息

Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

King Khalid University Hospital, Riyadh, Saudi Arabia.

出版信息

Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26.

Abstract

Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone-rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.

摘要

先天性静止性夜盲症(CSNB)是一组罕见的、主要影响视网膜的静止性疾病,由几种特定和必需的视觉处理机制的功能障碍引起。遗传通常是隐性的,因此,CSNB 在具有高度近亲结婚的人群中可能更为常见。在这里,我们介绍了 CSNB 在沙特阿拉伯的临床和分子遗传学研究的最新进展和综述。自 2015 年发表了一篇关于 CSNB 的主要综述文章以来,描述了 17 个导致 CSNB 的基因,另外还有 4 个基因被牵连到常染色体隐性 CSNB 中:RIMS2、GNB3、GUCY2D 和 ABCA4。这些基因与综合征性圆锥-杆突触疾病、ON 双极细胞功能障碍导致的锥体细胞敏感性降低、光转导功能障碍导致的 CSNB(Riggs 型)和圆锥-杆营养不良型 CSNB 相关。在沙特阿拉伯,通过文献检索和对以前未发表病例的回顾性研究,共发现 24 名 CSNB 患者。TRPM1 和 CABP4 的隐性突变占大多数(每个基因分别为 5 和 13)。这些基因分别与完全性(cCSNB)和不完全性(icCSNB)相关,前者与高度近视有关,后者与远视有关。发现了四个新的突变。我们首次描述了来自沙特阿拉伯的两名患者的眼底白点症,这是由 RDH5 和 RPE65 的隐性突变引起的,前者还具有与圆锥细胞营养不良相符的发现。没有发现任何显性遗传的 CSNB 病例。

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