Weill Cornell Medicine-Qatar, Qatar Foundation, Education City, Doha, Qatar.
Faculty of Health Sciences, Khyber Medical University, Peshawar, Pakistan.
BMC Med Genomics. 2023 Nov 23;16(1):301. doi: 10.1186/s12920-023-01739-w.
Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS.
A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted from saliva samples. Corneal confocal microscopy (CCM) and retinal spectral domain optical coherence tomography (SD-OCT) were used to identify novel ophthalmic features in these patients. The two affected individuals had a homozygous variant in C8orf37 (p.Trp185*). SD-OCT and CCM demonstrated a marked and patchy reduction in the retinal nerve fiber layer thickness and loss of corneal nerve fibers, respectively.
This report highlights the use of ophthalmic imaging to identify novel retinal and corneal abnormalities that extend the phenotype of BBS in a patient with syndromic type 2 diabetes.
Bardet-Biedl 综合征（BBS）是一种常染色体隐性遗传、基因异质性、多效性疾病，由参与初级纤毛功能的基因变异引起。我们利用基因组学来识别 BBS，并利用眼科技术来描述 BBS 的新特征。
一名患有不明原因的 2 型综合征糖尿病、另一名受影响的兄弟姐妹和未受影响的兄弟姐妹及父母，使用从唾液样本中提取的 DNA 进行测序。使用角膜共聚焦显微镜（CCM）和视网膜频域光相干断层扫描（SD-OCT）来识别这些患者的新眼科特征。这两名受影响的个体在 C8orf37 中存在纯合变异（p.Trp185*）。SD-OCT 和 CCM 分别显示视网膜神经纤维层厚度明显且呈斑片状减少以及角膜神经纤维丧失。
本报告强调了使用眼科成像来识别新的视网膜和角膜异常，这些异常扩展了 2 型综合征糖尿病患者的 BBS 表型。
