Lee Brian J H, Sun Christopher Z Y, Ong Charles J T, Jain Kanika, Tan Tien-En, Chan Choi Mun, Mathur Ranjana S, Tang Rachael W C, Bylstra Yasmin, Kam Sylvia P R, Lim Weng Khong, Fenner Beau J
Singapore National Eye Centre, Singapore Eye Research Institute, Singapore.
Ophthalmology and Visual Sciences Clinical Academic Program, Duke-NUS Graduate Medical School, Singapore.
Taiwan J Ophthalmol. 2024 Dec 3;14(4):486-496. doi: 10.4103/tjo.TJO-D-24-00066. eCollection 2024 Oct-Dec.
Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes. Clinical phenotyping provides a foundation for understanding disease progression and informing subsequent genetic investigations. Establishing a clear clinical phenotype for IRD cases is required to corroborate the data obtained from exome and genome sequencing, which often yields numerous variants in genes associated with IRD. In the current work, we review the use of contemporary retinal imaging modalities, including ultra-widefield and autofluorescence imaging, optical coherence tomography, and multispectral imaging, in the diagnosis of IRD.
遗传性视网膜变性(IRD)是一组具有不同发病时间和严重程度的遗传性疾病,在大多数情况下,视力丧失是常见的最终结局。已描述了50多种不同的IRD表型和280多个致病基因。由于即使在基因型相似的患者中也存在临床变异性,因此为IRD患者确定临床表型尤其具有挑战性。临床表型分析为理解疾病进展和为后续基因研究提供信息奠定了基础。为IRD病例建立明确的临床表型对于证实从外显子组和基因组测序获得的数据是必要的,这些测序通常会在与IRD相关的基因中产生大量变异。在当前的工作中,我们回顾了当代视网膜成像模式,包括超广角和自发荧光成像、光学相干断层扫描和多光谱成像,在IRD诊断中的应用。