Optogenetics is an emerging biological approach with the unique capability of specific targeting due to the precise light control with high spatial and temporal resolution. It uses selected light wavelengths to control and modulate the biological functions of cells, tissues, and organ levels. Optogenetics has been instrumental in different biomedical applications, including neuroscience, diabetes, and mitochondria, based on distinctive optical biomedical effects with light modulation. Nowadays, optogenetics in cardiology is rapidly evolving for the understanding and treatment of cardiovascular diseases. Several in vitro and in vivo research for cardiac optogenetics demonstrated visible progress. The optogenetics technique can be applied to address critical cardiovascular problems such as heart failure and arrhythmia. To this end, this paper reviews cardiac electrophysiology and the technical progress about experimental and clinical cardiac optogenetics and provides the background and evolution of cardiac optogenetics. We reviewed the literature to demonstrate the servo type, transfection efficiency, signal recording, and heart disease targets in optogenetic applications. Such literature review would hopefully expedite the progress of optogenetics in cardiology and further expect to translate into the clinical terminal in the future.

Objective: aaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort. Methods: aaMedical records of WD patients diagnosed from 2006–2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes. Results: aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations. Conclusion aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.