Association of retinal microvascular density and complexity with incident coronary heart disease.

BACKGROUND AND AIMS: The high mortality rate and huge disease burden of coronary heart disease (CHD) highlight the importance of its early detection and timely intervention. Given the non-invasive nature of fundus photography and recent development in the quantification of retinal microvascular parameters with deep learning techniques, our study aims to investigate the association between incident CHD and retinal microvascular parameters. METHODS: UK Biobanks participants with gradable fundus images and without a history of diagnosed CHD at recruitment were included for analysis. A fully automated artificial intelligence system was used to extract quantitative measurements that represent the density and complexity of the retinal microvasculature, including fractal dimension (Df), number of vascular segments (NS), vascular skeleton density (VSD) and vascular area density (VAD). RESULTS: A total of 57,947 participants (mean age 55.6 ± 8.1 years; 56% female) without a history of diagnosed CHD were included. During a median follow-up of 11.0 (interquartile range, 10.88 to 11.19) years, 3211 incident CHD events occurred. In multivariable Cox proportional hazards models, we found decreasing Df (adjusted HR = 0.80, 95% CI, 0.65-0.98, p = 0.033), lower NS of arteries (adjusted HR = 0.69, 95% CI, 0.54-0.88, p = 0.002) and venules (adjusted HR = 0.77, 95% CI, 0.61-0.97, p = 0.024), and reduced arterial VSD (adjusted HR = 0.72, 95% CI, 0.57-0.91, p = 0.007) and venous VSD (adjusted HR = 0.78, 95% CI, 0.62-0.98, p = 0.034) were related to an increased risk of incident CHD. CONCLUSIONS: Our study revealed a significant association between retinal microvascular parameters and incident CHD. As the lower complexity and density of the retinal vascular network may indicate an increased risk of incident CHD, this may empower its prediction with the quantitative measurements of retinal structure.

Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole­exome sequencing.

Retinitis pigmentosa (RP) is a common form of inherited retinal degeneration that causes progressive loss of vision or adult blindness, characterized by the impairment of rod and cone photoreceptors. At present, mutations in >60 pathogenic genes have been confirmed to cause RP. The predominant modes of inheritance are autosomal dominant, autosomal recessive and X­linked. In addition, other modes of inheritance, including digenic or mitochondrial inheritance, have been reported. In previous decades, with the development of sequencing techniques, significant advances in identifying novel RP pathogenic genes and screening mutations have been made. In the present study, whole­exome sequencing was performed on samples from two Chinese pedigrees diagnosed with RP. A compound heterozygous mutation in the gene usherin 2A (USH2A; c.6,485+5G>A/c.11,156G>A) and a heterozygous X­linked mutation in the gene retinitis pigmentosa 2 (RP2) ARL3 GTPase­activating protein (RP2; c.358C>T) were identified by Sanger sequencing and co­segregation analysis, of which the pathogenic mutation (c.6,485+5G>A) in USH2A has not been previously reported among Chinese patients. The findings of the present study may expand on current knowledge of RP among the Chinese population, providing essential assistance in the molecular diagnosis and screening of RP, and promoting further investigation of the pathogenesis of RP.