Functional impairment of reading in patients with dry eye

BACKGROUND/AIMS: To evaluate the impact of dry eye on reading performance. METHODS: Out-loud and silent reading in patients with clinically significant dry eye (n=41) and controls (n=50) was evaluated using standardised texts. Dry eye measures included tear film break-up time, Schirmer's test and corneal epithelial staining. Symptoms were assessed by the Ocular Surface Disease Index (OSDI). RESULTS: The dry eye group had a greater proportion of women as compared with the control group but did not differ in age, race, education level or visual acuity (p≥0.05 for all). Out-loud reading speed averaged 148 words per minute (wpm) in dry eye subjects and 163 wpm in controls (p=0.006). Prolonged silent reading speed averaged 199 wpm in dry eye subjects versus 226 wpm in controls (p=0.03). In multivariable regression models, out-loud and sustained silent reading speeds were 10 wpm (95% CI −20 to −1 wpm, p=0.039) and 14% (95% CI −25% to −2%, p=0.032) slower, respectively, in dry eye subjects as compared with controls. Greater corneal staining was associated with slower out-loud (−2 wpm/1 unit increase in staining score, 95% CI =−3 to −0.3 wpm) and silent (−2%, 95% CI −4 to −0.6 wpm) reading speeds (p<0.02 for both). Significant interactions were found between OSDI score and word-specific features (longer and less commonly used words) on out-loud reading speed (p<0.05 for both). CONCLUSIONS: Dry eye is associated with slower out-loud and silent reading speeds, providing direct evidence regarding the functional impact of dry eye. Reading speed represents a measurable clinical finding that correlates directly with dry eye severity

Clinical anatomy: cornea and ocular surface

Background: The cornea and ocular surface serve as a vital barrier and the eye’s primary refractive medium, requiring precise coordination to maintain transparency, structural integrity, and immune protection. Constantly exposed to environmental stressors, this interface relies on the stability of the tear film, epithelial architecture, mucin layers, and limbal stem cells to preserve function. Disruption in any component can impair vision and increase vulnerability to disease. Advances in imaging and molecular diagnostics have deepened our understanding of these structures, offering new avenues for early detection and personalized treatment strategies. A comprehensive review is needed to integrate recent findings and assess their clinical relevance. Methods: A targeted literature search was conducted using PubMed/MEDLINE and Google Scholar to identify English-language publications from 1 January 2000 to 30 May 2025. Keywords included “anatomy,” “histology,” “cornea,” “ocular surface,” “epithelium,” “Bowman’s layer,” “stroma,” “Descemet’s membrane,” “endothelium,” “conjunctiva,” “lacrimal functional unit,” and “eyelids.” Studies were selected irrespective of design, and reference lists of included articles were manually screened for additional relevant sources. Results: Eighty-six publications were reviewed. Findings highlight that the cornea and ocular surface constitute an integrated anatomical and physiological continuum essential for optical clarity, visual acuity, and ocular health. This dynamic unit comprises the cornea, conjunctiva, tear film (mucin, aqueous, and lipid layers), meibomian glands, goblet cells, and the limbal stem cell niche. Collectively, these elements provide lubrication, immune defense, epithelial homeostasis, and structural integrity. Disruption in any component—such as in dry eye disease, limbal stem cell deficiency, or meibomian gland dysfunction—can precipitate epithelial breakdown, neovascularization, or stromal scarring, ultimately compromising vision. Recognizing this interdependence has reframed ocular surface disease as a multifactorial condition rather than an isolated disorder. A comprehensive understanding of the structural and immunological dynamics of this system is therefore critical for refining surgical strategies and developing targeted therapies. Conclusions: The cornea and ocular surface components function synergistically to maintain a transparent, stable refractive surface essential for vision. Their coordinated roles in protection, lubrication, immune defense, and tissue repair reveal the importance of anatomical understanding for developing targeted therapies and improving clinical outcomes. A comprehensive understanding of this anatomy is essential for clinicians and researchers aiming to develop more precise therapeutic strategies and surgical techniques to enhance patient outcomes and preserve visual function. Future research should focus on advancing regenerative strategies and personalized treatments to address complex ocular surface disorders more effectively

Metabolomics analysis of iPSCs derived organoids

Regenerative medicine is focused on functional restoration of a particular tissue and organs. Stem cell based miniaturized heterogenous cellular clusters named organoids, exhibit features of organ functionality, self-organization, multicellularity, and utility. Induced pluripotent stem cells (iPSCs), have great potential to develop organoids of specific tissues and utilized in regenerative medicine. Organoid technologies have revolutionized the approach to human development and diseases, providing outstanding tools for research and in vitro disease modeling. The goal of this study is to investigate potential metabolites of lacrimal gland organoids from human iPSC-derived multi zonal ocular cells. With the use of metabolomics technologies, we aimed to identify the metabolites present in iPSC derived lacrimal gland (LG) organoids to better understand developmental phases in vitro. Additionally, we investigate the secretion profiles of functional LG organoids upon chemical stimulation. To achieve that we collected cell and supernatant samples of undifferentiated iPSCs, immature and mature LG organoids and analyzed with GC-MS. We identify total 128 and 179 metabolites from cell lysates and from culture supernatant respectively. The data clearly demonstrate the metabolic shifts during the differentiation, maturation and stimulation. Profiling of energy, lipid and amino acid metabolisms of organoids within defined conditions and time course has been successfully elucidated. This work can serve as a model for future organoid research

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

<p>Abstract</p> <p>Background</p> <p>Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.</p> <p>Methods</p> <p>Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.</p> <p>Results</p> <p>The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.</p> <p>Conclusion</p> <p>A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region.</p

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings

Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype. Autosomal dominant mutations and deletions of the nuclear receptor set domain gene (NSD1), which is located at chromosome 5q35, are responsible for most of the cases. We describe a six-year old boy who had tall stature, macrocephaly, typical facial appearance, learning disability, megaloencephaly, corpus callosum dysgenesis, and colpocephaly. Although he had normal bone age, the diagnosis of Sotos syndrome was suspected with these clinical findings, and fluorescence in situ hybridization analysis of the patient showed a heterozygous deletion covering the NSD1 region in the 5q35 locus. A brief overview of the syndrome is presented

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategie

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. However, few studies have tested this assumption. Here we determined the origin of CNVs which coexist with a normal cell line in nine individuals. We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses

Influence of Reduced Folate Carrier and Aminoimidazole Carboxamide Ribonucleotide Transformylase gene polymorphisms on the efficacy of methotrexate in juvenile idiopathic arthritis

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