Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.

Hereditary optic neuropathies (HON) are a group of diseases due to genetic defects either in mitochondria or in nuclear genomes. The increasing availability of genetic testing has expanded a broader genetic and phenotypic spectrum of HON than previously recognized. To provide systematic insight into the genetic and phenotypic landscape of HON attributed to 50 nuclear genes, we conducted genetic analysis on part of 4776 index patients with clinical diagnosis of HON following our previous study on 1516 probands with Leber hereditary optic neuropathy (LHON) and mitochondrial DNA variants.

Neuropeptide Precursor VGF Promotes Liver Metastatic Colonization of Gαq Mutant Uveal Melanoma by Facilitating Tumor Microenvironment via Paracrine Loops.

Uveal melanoma (UM), the predominant primary ocular malignancy, often progresses to liver metastasis with limited therapeutic options. The interplay of the tumor microenvironment, encompassing secreted soluble factors, plays a crucial role in facilitating liver metastasis. In this study, the role is elucidated of the neural growth factor-inducible gene (VGF), a secreted neuropeptide precursor, in Gαq mutant UM.

Chirp excitation for natural frequency optical coherence elastography.

Optical coherence elastography (OCE) has recently been used to characterize the natural frequencies of delicate tissues (e.g., the human cornea) with sub-micron tissue oscillation magnitudes.

IL-33 protects retinal structure and function via mTOR/S6 signaling pathway in optic nerve crush.

This study demonstrated the functions and molecular mechanisms of the IL-33/ST2 axis in experimental optic neuropathy. C57BL/6J mice were used to establish an optic nerve crush (ONC) model. ONC mice were administered with IL-33 intraperitoneal injection, with PBS vehicle as control.

Global, regional, and national burden of retinoblastoma in infants and young children: findings from the global burden of disease study 1990-2021.

Background: Retinoblastoma is considered a lethal but curable malignancy often presenting in childhood. We investigated its global, regional, and national burden among infants and young children from 1990 to 2021.

Methods: We obtained data on retinoblastoma incidence, prevalence, mortality, and disability-adjusted life years (DALYs) from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021.

Structure features of FabG and virtual screening of allosteric inhibitors.

, a gram-positive bacterium, is responsible for diverse infections globally, and its antibiotic resistance presents significant challenges to medical advancements. It is imperative to employ various strategies to identify antibiotics. 3-oxoacyl-[acyl-carrier-protein] reductase (FabG) is a key component in the type II fatty acid synthase (FAS II) system, which is a developing target for new anti-streptococcal drugs.

Cytarabine chemotherapy induces meibomian gland dysfunction.

Purpose: Cytarabine (Ara-C) chemotherapy causes symptoms resembling meibomian gland dysfunction (MGD), suggesting potential associations between Ara-C and MGD. In this study, the pathological effects of Ara-C on MGD were investigated in a rodent model.

Methods: Mice received Ara-C with or without rosiglitazone (PPARγ agonist) for 7 consecutive days.

Widefield indocyanine green angiography evaluating choroidal vein drainage pattern and choroidal vein alterations in acute and chronic central serous chorioretinopathy.

Purpose: To access the distribution of choroidal vein drainage pattern and the choroidal vein alterations in choroidal vascular hyperpermeability (CVH) areas in eyes with acute and chronic central serous chorioretinopathy (CSC) using widefield indocyanine green angiography (WF-ICGA).

Methods: In this retrospective observational study, medical records and multimodal imaging of 127 patients (165 eyes) with CSC were reviewed. The number and location of dominant vortex veins and CVH areas on WF-ICGA images were evaluated.

Relationships between Frailty and the Risk of Glaucoma in Middle-aged and Older Adults.

Purpose: Increased frailty in older individuals increases health risks, but its relationship with glaucoma, the leading cause of irreversible blindness in middle-aged and older adults, is unclear. We investigated the association between frailty and glaucoma in a large-scale representative sample and explored possible causal relationships.

Design: Combined cross-sectional and Mendelian randomization (MR) study.

Initial Retinal Nerve Fiber Layer Loss and Risk of Diabetic Retinopathy Over a Four-Year Period.

Purpose: The purpose of this study was to investigate whether the rapid rate of peripapillary retinal nerve fiber layer (pRNFL) thinning in short-term is associated with the future risk of developing diabetic retinopathy (DR).

Methods: This prospective cohort study utilized 4-year follow-up data from the Guangzhou Diabetic Eye Study. The pRNFL thickness was measured by optical coherence tomography (OCT).

Prediction of testicular histology in azoospermia patients through deep learning-enabled two-dimensional grayscale ultrasound.

Testicular histology based on testicular biopsy is an important factor for determining appropriate testicular sperm extraction surgery and predicting sperm retrieval outcomes in patients with azoospermia. Therefore, we developed a deep learning (DL) model to establish the associations between testicular grayscale ultrasound images and testicular histology. We retrospectively included two-dimensional testicular grayscale ultrasound from patients with azoospermia (353 men with 4357 images between July 2017 and December 2021 in The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China) to develop a DL model.

Subtyping stage 3 epiretinal membrane: a comprehensive study of ectopic inner foveal layers architecture and its clinical implications.

Aims: To evaluate the visual function and foveal architecture in patients with stage 3 idiopathic epiretinal membrane (iERM).

Methods: A cross-sectional observational study included 56 eyes of 52 patients with stage 3 iERM. The patients were classified into type A ectopic inner foveal layers (EIFL) and type B EIFL based on the presence of a continuous hyporeflective band.