Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report.

Background: Corneal dystrophies (CDs) significantly affect quality of life. However, their progression and characteristics remain unclear. This study aimed to report a case of a unilateral variant of lattice corneal dystrophy (LCD) with c.

In Vivo Confocal Microscopy in Avellino Corneal Dystrophy.

Corneal dystrophies are a group of rare genetic eye disorders characterized by the accumulation of abnormal material in different layers of the cornea, potentially leading to vision impairment. In vivo confocal microscopy (IVCM) is an emerging non-invasive imaging and diagnostic tool that helps study the ocular surface microstructure. This case report examines the clinical characteristics of Avellino corneal dystrophy in a young patient through the use of slit lamp examination, IVCM, and optical coherence tomography (OCT) in order to assess the effectiveness of these non-invasive tests as diagnostic tools.

Polymerizing laminins in development, health, and disease.

Polymerizing laminins are multi-domain basement membrane (BM) glycoproteins that self-assemble into cell-anchored planar lattices to establish the initial BM scaffold. Nidogens, collagen-IV and proteoglycans then bind to the scaffold at different domain loci to create a mature BM. The LN domains of adjacent laminins bind to each other to form a polymer node, while the LG domains attach to cytoskeletal-anchoring integrins and dystroglycan, as well as to sulfatides and heparan sulfates.

Ophthalmic drug effects on the amyloidogenesis of a transforming growth factor β-induced protein (TGFBIp) peptide fragment.

Drugs that can treat one disease may either be detrimental or beneficial toward another due to possible cross-interactions. Therefore, care in choosing a suitable drug for patients with multiple diseases is crucial in successful patient management. This study explores several currently available ophthalmic drugs used to treat common ocular diseases to understand how they can affect the amyloidogenesis of a transforming growth factor β-induced protein (TGFBIp) peptide fragment found in abundance in the corneal protein aggregation deposits of lattice corneal dystrophy (LCD) patients.

Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy.

Introduction: Genetic mutations or inflammatory, degenerative, or neoplastic conditions can trigger amyloidosis. Hereditary gelsolin amyloidosis is a genetic disorder primarily marked by amyloid fibrils composed of misfolded gelsolin fragments.

Case Report: We present three sisters with AGel amyloidosis, illustrating its clinical diversity.

Corneal amyloid staining after trypan blue in Descemet's membrane endothelial keratoplasty.

Purpose: This case report seeks to highlight impressive photographs of amyloid staining with trypan blue that persisted after DMEK surgery with 3 years follow-up. This has only been reported in the literature twice previously, and may have contributed to visual symptoms in the early post-operative period of this patient.

Observations: We report a case of an 82-year-old patient with concurrent Fuchs' corneal endothelial dystrophy and lattice corneal dystrophy who suffered permanent trypan blue staining of the amyloid deposits after descemet's membrane endothelial keratoplasty (DMEK) surgery.

IC3D Classification of Corneal Dystrophies-Edition 3.

Purpose: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature.

Methods: Peer-reviewed publications from 2014 to 2023 were evaluated.

Low-Carbohydrate Diet Macronutrient Quality and Weight Change.

Importance: The associations of low-carbohydrate diets (LCDs) with long-term weight management remains unclear, and the source and quality of macronutrients within LCDs are less explored.

Objectives: To prospectively examine associations between changes in LCD indices and weight change among US adults.

Design, Setting, And Participants: This prospective cohort study included initially healthy participants at baseline from the Nurses' Health Study (NHS; 1986-2010), Nurses' Health Study II (NHSII; 1991-2015), and Health Professionals Follow-up Study (HPFS; 1986-2018).

Microbial keratitis in lattice corneal dystrophy: microsporidia as a new cause.

A patient in his sixth decade presented to us with redness, pain and a deterioration of vision in his left eye. He had previously been diagnosed with lattice corneal dystrophy (LCD). He was diagnosed with microbial keratitis, and mixed infection was confirmed on culture (bacteria and fungus) with a protracted healing period before resolution of keratitis.

Classic lattice corneal dystrophy: a brief review and summary of treatment modalities.

Purpose: To provide a brief summary and comparison of the most recent literature on available and theorized treatment modalities for classic lattice corneal dystrophy (LCD). This paper aims to support practitioners in their management of this disease.

Methods: A search was carried out on available literature through PubMed and Google Scholar of English language articles up to January 2023 that relate to the treatment of LCD.

A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.

Purpose: To investigate the gene mutations and relationship of clinical manifestation in a Chinese family with familial lattice corneal dystrophy (LCD).

Design: Single-family case-control study.

Methods: A family with familial LCD was recruited for this study.

Effects of the pharmaceutical formulation of topical medications on corneal epithelial healing after phototherapeutic keratectomy.

Purpose: To determine the effect of the formulation of topical medications on the healing of corneal epithelial cells after phototherapeutic keratectomy (PTK).

Study Design: Retrospective cohort study.

Methods: We studied 271 eyes of 189 consecutive patients (aged 67.

Combined Topography-Guided Trans-Epithelial PRK and PTK for Recalcitrant Recurrent Corneal Erosions in Lattice Corneal Dystrophy.

Purpose: To report morphologic and functional changes after topography-guided trans-epithelial photorefractive keratectomy (PRK) combined with phototherapeutic keratectomy (PTK) for recalcitrant recurrent corneal erosions in Lattice Corneal Dystrophy (LCD).

Methods: One case report.

Results: A 78-year-old man presented us with decreased visual acuity [20/100 in right eye (RE), and 20/400 in left eye (LE)], and redness with foreign body sensation in both eyes.

Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.

Losartan is an angiotensin II receptor blocker (ARB) that impedes transforming growth factor (TGF) beta signaling by inhibiting activation of signal transduction molecule extracellular signal-regulated kinase (ERK). Studies supported the efficacy of topical losartan in decreasing scarring fibrosis after rabbit Descemetorhexis, alkali burn, and photorefractive keratectomy injuries, and in case reports of humans with scarring fibrosis after surgical complications. Clinical studies are needed to explore the efficacy and safety of topical losartan in the prevention and treatment of corneal scarring fibrosis, and other eye diseases and disorders where TGF beta has a role in pathophysiology.

Clinical and Histopathologic Characteristics and Template of the TGFBI p.(His626Arg) Missense Variant Lattice Corneal Dystrophy.

Purpose: The aim of this study was to define, following the IC3D template format, the clinical and histopathologic phenotype of the p.(His626Arg) missense variant lattice corneal dystrophy (LCDV-H626R), the most common variant lattice dystrophy, and to record long-term outcome of corneal transplantation in this dystrophy.

Methods: A database search and a meta-analysis of published data on LCDV-H626R were conducted.

Paraproteinemic Keratopathy in a Patient With Previous LASIK Procedure Mimicking Lattice Corneal Dystrophy.

Purpose: The aim of this study was to report a unique clinical presentation of paraproteinemic keratopathy after a myopic uneventful laser in situ keratomileusis (LASIK) procedure that led to the diagnosis of gammopathy of undetermined significance.

Methods: This was an interventional case report. A 55-year-old woman present with bilateral branching opacities limited to the optical zone of myopic LASIK.

A case of lattice corneal dystrophy type 1 with bilateral Mooren's ulcer.

Purpose: To report a rare case of lattice corneal dystrophy type 1 (LCD1) with bilateral Mooren's ulcer.

Observations: This case involved a 62-year-old male patient with LCD1 who presented with the primary complaint of experiencing pain and photophobia in both eyes for 2 months prior to his initial visit. Upon examination, a peripheral corneal ulcer was observed in both eyes covering more than 3 of the 4 quadrants, accompanied with ciliary injection and severe corneal infiltration.

A Case of Clinically Atypical Gelatinous Drop-like Corneal Dystrophy With Unilateral Recurrent Amyloid Depositions.

Purpose: The purpose of this article was to describe the successful diagnosis and management of clinically atypical, unilateral, gelatinous drop-like corneal dystrophy (GDLD) in a pediatric patient.

Methods: This study was a case report.

Results: A 7-year-old Japanese girl was referred to our clinic with right corneal opacity for over 3 years.

Myofibrillar Lattice Remodeling Is a Structural Cytoskeletal Predictor of Diaphragm Muscle Weakness in a Fibrotic () Model.

Duchenne muscular dystrophy (DMD) is a degenerative genetic myopathy characterized by complete absence of dystrophin. Although the mouse lacks dystrophin, its phenotype is milder compared to DMD patients. The incorporation of a null mutation in the gene led to a more DMD-like phenotype (i.

Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure.

A 56-year-old male with family background of corneal dystrophy presents with poor subjective vision. Biomicroscopy reveals bilateral reticular stromal dystrophy and facial inspection shows signs of muscle dysfunction, such as eyebrow ptosis, weakness and sagging of the frontal muscles, redundant skin on the forehead and skin hyperelasticity. The patient is referred to Plastic Surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure.