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ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.

Invest Ophthalmol Vis Sci

January 2025

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.

Purpose: The purpose of this study was to investigate the contribution and natural progression of ABCA4 deep intronic variants (DIVs) among a Chinese Stargardt disease (STGD) cohort.

Methods: For unsolved STGD probands, DIVs in ABCA4 were detected by next-generation sequencing, and splicing effects were evaluated by in silico tools and validated through minigene experiments. Comprehensive ocular examinations, especially fundus changes, were carried out and analyzed.

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Diabetic retinopathy, a retinal disorder resulting from diabetes mellitus, is a prominent cause of visual degradation and loss among the global population. Therefore, the identification and classification of diabetic retinopathy are of utmost importance in the clinical diagnosis and therapy. Currently, these duties are extensively carried out by manual examination utilizing the human visual system.

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Background: The aim of the study was to investigate the quantitative differences between severe stage 3 and stage 4A retinopathy of prematurity (ROP) by evaluating the pre-treatment fundus photographs.

Methods: Thirty-three eyes with clinical diagnosed as severe stage 3 were classified as severe stage 3 group. Twenty-two eyes with retinal detachment without foveal involvement were classified as stage 4A group.

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Multi scale multi attention network for blood vessel segmentation in fundus images.

Sci Rep

January 2025

Department of Data Science and Artificial Intelligence, Sunway University, 47500, Petaling Jaya, Selangor Darul Ehsan, Malaysia.

Precise segmentation of retinal vasculature is crucial for the early detection, diagnosis, and treatment of vision-threatening ailments. However, this task is challenging due to limited contextual information, variations in vessel thicknesses, the complexity of vessel structures, and the potential for confusion with lesions. In this paper, we introduce a novel approach, the MSMA Net model, which overcomes these challenges by replacing traditional convolution blocks and skip connections with an improved multi-scale squeeze and excitation block (MSSE Block) and Bottleneck residual paths (B-Res paths) with spatial attention blocks (SAB).

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The relationship between retinal fundus hemorrhage and the severity of coronary artery lesions remains unclear. This study aimed to explore the incidence of fundus hemorrhage in patients at high risk of coronary heart disease (CHD) and to examine its correlation with the SYNTAX score, a tool used to assess the complexity of coronary artery disease. This retrospective study consecutively enrolled patients undergoing coronary angiography (CAG) at Beijing Anzhen Hospital Hospital from June 2019 to January 2020.

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