A semantic segmentation method to analyze retinal vascular parameters of diabetic nephropathy.

Introduction: By using spectral domain optical coherence tomography (SD-OCT) to measure retinal blood vessels. The correlation between the changes of retinal vascular structure and the degree of diabetic nephropathy is analyzed with a full-pixel Semantic segmentation method.

Methods: A total of 120 patients with diabetic nephropathy who were treated in the nephrology department of Quzhou People's Hospital from March 2023 to March 2024 were selected and divided into three groups according to the urinary albumin creatinine ratio (UACR).

A rare missense mutation causes atypical aniridia in a three-generation Chinese family.

Aim: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a missense mutation in members with atypical aniridia.

Methods: Eleven family members with and without atypical aniridia were recruited. All family members underwent comprehensive ophthalmic examinations.

Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.

High myopia (HM) is a leading cause of mid-way blindness with a high heritability in East Asia. Although only a few disease genes have been reported, a small proportion of patients could be identified with genetic predispositions. In order to expand the mutation spectrum of the causative genes in Chinese adult population, we investigated three genes, SLC39A5, LEPREL1 and LRPAP1, in a cohort of 187 independent Chinese patients with high myopia.

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.

The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to -6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations using whole-exome sequencing.

Toll-Like Receptor 3 Activation Initiates Photoreceptor Cell Death In Vivo and In Vitro.

Purpose: Accumulating evidence has demonstrated that excessive immunoreaction plays a prominent role in the pathogenesis of dry AMD. Toll-like receptor 3 (TLR3) can be activated by double-stranded (ds)RNA in retinal pigment epithelia and trigger an innate immunity-mediated inflammatory response. However, its role in photoreceptor cells, the effectors of AMD geographic atrophy, remains unclear.