Pilot Programme for Keratoconus Screening and Management in Adolescents with Down Syndrome

Diagnostics, Journal Year: 2025, Volume and Issue: 15(6), P. 683 - 683

Published: March 10, 2025

Background/Objectives: To screen a group of adolescents with Down Syndrome (Trisomy 21) for keratoconus and assess the feasibility setting up national screening service. Methods: Twenty-seven patients between 9 18 years age attended our pilot clinic. We recorded demographics, medical history, risk factors, best-corrected distance visual acuity, clinical examination results corneal tomography results. The presence was confirmed by one three specialists based on tomographic findings. Tomographic analysis included zonal Kmax, thinnest point, inferior–superior asymmetry (IS Values), Belin/Ambrosio deviation value (BAD-D) anterior posterior elevation maps. Results: Early detected in 8 out 54 eyes (15%) at first review. These were listed crosslinking. mean diagnosis 14.6. Corneas thinner steeper (mean central thickness (CCT) 479 µm vs. 536 Kmax 49.2D 45.8D, respectively) than healthy, age-matched controls from literature. Conclusions: Fifteen percent (5 27 patients) screened had evidence requiring treatment their found an increased incidence European individuals Syndrome. Screening this vulnerable, high-risk population can diagnose early enable crosslinking to safely effectively stabilise disease. advocate mid-teens.

Language: Английский

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Genotype–Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights

Clinical and Experimental Ophthalmology, Journal Year: 2025, Volume and Issue: unknown

Published: March 13, 2025

ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification is based on slit‐lamp appearance, affected layer histological features. Molecular genetics has provided ultimate proof for the existence distinct discarded duplicates in their terminology. Currently, there at least 16 genes with identified pathogenic variants implicated dystrophies. Herein, we summarise contemporary knowledge genotype–phenotype correlations dystrophies, including critical review some reported variants, along understanding underlying dystrophic process; essential development targeted therapies.

Language: Английский

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The Underlying Relationship between Keratoconus and Down Syndrome

International Journal of Molecular Sciences, Journal Year: 2022, Volume and Issue: 23(18), P. 10796 - 10796

Published: Sept. 16, 2022

Keratoconus (KC) is one of the most significant corneal disorders worldwide, characterized by progressive thinning and cone-shaped protrusion cornea, which can lead to severe visual impairment. The prevalence KC varies greatly ethnic groups geographic regions has been observed be higher in recent years. Although studies reveal a possible link between genetics, hormonal disturbances, environmental factors, specific comorbidities such as Down Syndrome (DS), exact cause remains unknown. incidence ranges from 0% 71% DS patients, implying that worldwide population patients grows, number may continue rise significantly. As result, this review aims shed more light on underlying relationship examining genetics relating central thickness (CCT), mechanical forces vigorous eye rubbing. Furthermore, discusses diagnostic treatment strategies help detect well available mouse models could used modeling patients. In summary, will provide improved clinical knowledge promote additional KC-related research these enhance their eyesight suitable targets.

Language: Английский

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Causal Links Between Systemic Disorders and Keratoconus in European Population

American Journal of Ophthalmology, Journal Year: 2024, Volume and Issue: 265, P. 189 - 199

Published: May 3, 2024

Language: Английский

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Pathogenesis of keratoconus: NRF2-antioxidant, extracellular matrix and cellular dysfunctions

Experimental Eye Research, Journal Year: 2022, Volume and Issue: 219, P. 109062 - 109062

Published: April 3, 2022

Language: Английский

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Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data

American Journal of Ophthalmology, Journal Year: 2022, Volume and Issue: 240, P. 321 - 329

Published: April 22, 2022

Language: Английский

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Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations

Internal Medicine, Journal Year: 2024, Volume and Issue: 63(5), P. 687 - 692

Published: Feb. 29, 2024

17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous of chromosome 17q12. We herein report 35-year-old Japanese patient identified de novo 1.46 Mb segment at band genetic analyses. He exhibited wide range such as maturity-onset diabetes young (MODY) type 5, structural or functional abnormalities kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; keratoconus, acquired perforating dermatosis. This case provides valuable resources concerning clinical spectrum syndrome.

Language: Английский

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Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study

Investigative Ophthalmology & Visual Science, Journal Year: 2024, Volume and Issue: 65(5), P. 29 - 29

Published: May 20, 2024

Purpose: Keratoconus (KC) is a progressive corneal disease that can lead to blindness if not properly managed. The purpose of this study was identify genetic associations with KC in China and investigate whether these variants are associated thickness curvature cases. Methods: A genome-wide association conducted on 853 patients 6248 controls. cases were genotyped the Illumina Infinium Human Asian Screening Array BeadChip, controls Global BeadChip. Genetic KC, as well correlations between positive parameters including central (CCT) mean keratometry (Km), compared using PLINK version 1.90. Results: Our present identified four single-nucleotide polymorphisms (SNPs) within risk loci (PTGER3: rs2300163, EYA1: rs1077435, ASS1: rs141365191, CHTF8: rs3743680) Chinese reached significance. Among SNPs P < 1.00 × 10−4, seven (FOSL2-PLB1: rs12622211, RXRA-COL5A1: rs3118515, rs3132306, rs1536482, rs3118520, KAT6B: rs192187772, RAP2A-IPO5: rs41361245) observed be CCT, one SNP (USP13: rs6767552) found Km. Conclusions: In first relatively large population China, we disease. findings enriched understanding susceptibility provided new insights into etiology

Language: Английский

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Identification of Keratoconus-Related Phenotypes in Three Ppip5k2 Mouse Models

Investigative Ophthalmology & Visual Science, Journal Year: 2024, Volume and Issue: 65(6), P. 22 - 22

Published: June 13, 2024

Purpose: It is necessary to establish a mouse model of keratoconus (KC) for research and therapy. We aimed determine corneal phenotypes in 3 Ppip5k2 models. Methods: Central thickness (CCT) was determined using spectral domain optical coherence tomography (SD-OCT) Ppip5k2+/K^ (n = 41 eyes), Ppip5k2K^/K^ 17 eyes) 2 knock-in mice, Ppip5k2S419A/+ 54 Ppip5k2S419A/S419A 18 Ppip5k2D843S/+ 42 Ppip5k2D843S/D843S 44 at 6 months. Pachymetry maps were generated the Mouse Corneal Analysis Program (MCAP) process OCT images. Slit lamp biomicroscopy used any abnormalities, and, last, hematoxylin eosin (H&E) staining sections from these animals examine morphological changes. Results: CCT significantly decreased months mice compared their littermate controls. OCT-based pachymetry revealed abnormally localized thinning all three models wild-type (WT) examinations abnormalities form bullous keratopathy, stromal edema, scarring, deep neovascularization, opacities heterozygous/homozygous comparison with histological such as epithelial thickening layer damage, observed WT Conclusions: have identified phenotypic changes corneas lines that could be relevant development animal KC.

Language: Английский

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Whole-exome Sequencing Screening for Candidate Genes and Variants Associated with Primary Sporadic Keratoconus in Chinese Patients

Experimental Eye Research, Journal Year: 2024, Volume and Issue: 245, P. 109978 - 109978

Published: June 21, 2024

Language: Английский

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