Causal role of immune cells in uveitis: Mendelian randomization study.

Background: Uveitis, characterized by inflammation of the iris, ciliary body, and choroid, presents a significant global clinical challenge, contributing substantially to visual impairment. Risk factors include autoimmune diseases and immune cell dysfunctions, yet many remain unidentified. Immune cells, notably T cells, B cells, and monocytes, play pivotal roles in uveitis pathogenesis.

Intravitreal Dexamethasone Implant (Ozurdex) for Ocular Toxocariasis.

This study aimed to evaluate the efficacy and safety of intravitreal dexamethasone implants in the treatment of ocular toxocariasis (OT). A retrospective analysis was performed on 6 cases in which laboratory tests diagnosed OT. All patients were administered with intravitreal dexamethasone implants with or without vitrectomy.

Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.

Congenital acorea is a rare disease with the absence of a pupil in the eye. To date, only one family and two isolated cases with congenital acorea have been reported. The gene associated with acorea has not been identified.

Leukemia Inhibitory Factor Protects against Degeneration of Cone Photoreceptors Caused by RPE65 Deficiency.

Background: Retinal pigment epithelium (RPE) 65 is a key enzyme in the visual cycle involved in the regeneration of 11-cis-retinal. Mutations in the human RPE65 gene cause Leber's congenital amaurosis (LCA), a severe form of an inherited retinal disorder. Animal models carrying Rpe65 mutations develop early-onset retinal degeneration.

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Rhodopsin is a light-sensitive G protein-coupled receptor that initiates the phototransduction cascade in rod photoreceptors. Mutations in the rhodopsin-encoding gene are the leading cause of autosomal dominant retinitis pigmentosa (ADRP). To date, more than 200 mutations have been identified in .

A retrospective analysis on comparison of optical coherence tomography manifestations among AMD, CEC, PM and ICN and its relationship with vision.

Background: Both macular choroidal neovascularization (MCN) and visual changes can occur in age-related macular degeneration (AMD), central exudative chorioretinopathy (CEC), pathological myopia (PM) and idiopathic choroidal neovascularization (ICN), but whether the optical coherence tomography (OCT) manifestations of the four diseases are different and their relationships with vision are not clear. This study clarifies this problem and can guide clinicians to prevent vision changes of patients according to OCT performance.

Methods: 76 patients with MCN, included 25 AMD, 21 CEC, 18 PM and 12 ICN [refer to Chinese Ophthalmology (3rd Edition)], detected by OCT instrument, were enrolled in this study from June 2020 to June 2022.

Ferrostatin-1 alleviates tissue and cell damage in diabetic retinopathy by improving the antioxidant capacity of the Xc-GPX4 system.

Diabetic retinopathy (DR) is a common microvascular complication leading to a high blindness rate among patients with diabetes. Ferroptosis is a type of cell death caused by the accumulation of iron-dependent lipid peroxides. Studies have shown that ferroptosis plays an important role in DR.

Identification of a novel compound heterozygous variant in a patient with autosomal recessive retinitis pigmentosa.

Retinitis pigmentosa (RP) belongs to a family of retinal disorders that is characterized by the progressive degeneration of rod and cone photoreceptors. The aim of the present study was to screen for possible disease-causing genetic variants in a non-consanguineous Chinese family with non-syndromic autosomal recessive RP. Whole-exome sequencing (WES) was performed in samples from the affected individual (the proband) and those from the two children of the proband.

Exogenous PDE5 Expression Rescues Photoreceptors in Mice.

Background: Catalytic hydrolysis of cyclic guanosine monophosphate (cGMP) by phosphodiesterase 6 (PDE6) is critical in phototransduction signalling in photoreceptors. Mutations in the genes encoding any of the three PDE6 subunits are associated with retinitis pigmentosa, the most common form of inherited retinal diseases. The RD1 mouse carries a naturally occurring nonsense mutation in the Pde6b gene.

Exploring Minimum Secondary Injury for the Treatment of Ocular Trauma With Giant Intraocular Foreign Bodies.

Purpose: To investigate the clinical therapy for giant intraocular foreign bodies (IOFBs) and evaluate the best treatment method with minimum secondary injury.

Methods: We retrospectively analyzed the data of 73 eyes of 73 patients with ocular trauma caused by giant IOFBs between January 2016 and December 2018. The IOFB size, localization, shape, and magnetic properties were recorded.

Leukemia inhibitory factor protects photoreceptor cone cells against oxidative damage through activating JAK/STAT3 signaling.

Background: The present study aimed to investigate the protective role of leukemia inhibitory factor (LIF) against oxidative damage in photoreceptor cone cells.

Methods: , dark-adapted mice were injected with LIF or phosphate-buffered saline (PBS) intravitreously prior to being exposed to 5,000 lux bright light to determine the protective effect of LIF against light damage in cone cells. Oxidative damage to cone cells was analyzed using electroretinograms, immunostaining, Western blotting and reverse transcription quantitative polymerase chain reaction (RT-qPCR).

[Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract].

Objective: To identify the disease-causing gene mutations in three Chinese pedigrees affected with congenital inherited cataract, in ordre to provide genetic counseling and prenatal diagnosis.

Methods: Using exons combined target region capture sequencing chip to screen the candidate disease-causing mutations, Sanger sequencing was used to confirm the disease-causing mutations.

Results: Family 1 was polymorphic cataract, family 2 was cerulean cataract, family 3 was coralliform cataract.