21 Results Found

Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in ch...

The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic...

Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members...

Recessive Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) mutations can cause early onset muscle–eye–brain disease but have also more recently been associated with non-syndromic Retinitis Pigmentosa. In this...

The VCAN/versican gene encodes an important component of the extracellular matrix, the chondroitin sulfate proteoglycan 2 (CSPG2/versican). Heterozygous variants targeting exon 8 of VCAN have been shown to cause Wagner disease, a rare autosomal domin...

Hereditary cataracts are characterized by significant clinical and genetic heterogeneity, which can pose challenges for early DNA diagnosis. To comprehensively address this problem, it is essential to investigate the epidemiology of the disease, perf...

The Lens Dysfunction Syndrome includes two widespread ocular disorders: presbyopia and cataract. Understanding its etiology, onset, progression, impact, prevention, and treatment remains a significant scientific challenge. The lens is a fundamental s...

Background: This study aims to evaluate changes in the central retina in patients with type 2 diabetes mellitus (T2DM) undergoing uncomplicated small incision cataract surgery with or without pseudoexfoliation syndrome (PEXS) using optical coherence...

Background: This paper will identify the potential genetic causes of multimorbidity associated with autosomal dominant congenital cataract (ADCC). Methods: Whole exome sequencing (WES) was performed on 13 individuals affected with ADCC. Subsequent bi...

Background/Objectives: Inherited retinal diseases (IRDs) are a heterogeneous group of rare eye disorders characterized by progressive photoreceptor degeneration, leading to severe visual impairment or even blindness. This study aims to investigate th...

This study compared the biometric accuracy and refractive outcomes, and ocular surface changes after cataract surgery in patients with Sjögren’s syndrome (SS, S group), non-SS dry eye patients (D group), and healthy controls (C group). The...

The MYH9 gene encodes the heavy chain (MHCII) of non-muscle myosin II A (NMII-A). This is an actin-binding molecular motor essential for development that participates in many crucial cellular processes such as adhesion, cell migration, cytokinesis an...

Oxidative stress is an imbalance between the increased production of reactive species and reduced antioxidant activity, which can cause a variety of disturbances including ocular diseases. Lycium barbarum polysaccharides (LBPs) are complex polysaccha...

Objective: To investigate any relationships between exfoliation syndrome or exfoliation glaucoma and age-related macular degeneration utilizing the Utah population database. Design: This was a retrospective, case–control cohort study. Subjects,...

Background and objective: This study sought to evaluate anterior capsulorhexis opening (ACO) reductions after surgery for a subluxated lens. Significant reduction of an ACO supports direct zonular involvement (capsular factors excluded by use of caps...

Eye diseases are associated with visual impairment, reduced quality of life, and may even lead to vision loss. The efficacy of available treatment of eye diseases is not satisfactory. The unique environment of the eye related to anatomical and physio...

Lowe Syndrome (LS) is a condition due to mutations in the OCRL1 gene, characterized by congenital cataracts, intellectual disability, and kidney malfunction. Unfortunately, patients succumb to renal failure after adolescence. This study is centered i...

Background: WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a...

Irvine–Gass syndrome (IGS) is a macular edema that is mostly observed after cataract surgery, also known as pseudophakic cystoid macular edema (PCME). To date, there are still no standardized guidelines for its treatment. Background/Objectives:...

Irvine–Gass syndrome (IGS) remains one of the most common complications following uneventful cataract surgery. In most cases, macular edema (ME) in IGS is benign, self-limiting, and resolves spontaneously without visual impairment; however, persisten...

Background/Objectives: We report the development of a novel intraocular sustained-release implantable pharmaceutical formulation, designed to be placed in the anterior chamber of the eye after cataract surgery. The device is intended to reduce postop...