The Underlying Relationship between Keratoconus and Down Syndrome

Keratoconus: An updated review

(2022) Jacinto Santodomingo-Rubido et al.   Contact Lens & Anterior Eye

Down syndrome and the eye: Ocular characteristics and ocular assessment

(2022) Joyce John Mathan et al.   SURVEY OF OPHTHALMOLOGY

Aqueous Misdirection After Trabeculectomy in a Down Syndrome Patient with Angle-closure Glaucoma

(2021) Austin Fox et al.   JOURNAL OF GLAUCOMA

Prevalence of Keratoconus in Persons With Down Syndrome in a National Registry in Norway

(2021) Olav Kristianslund et al.   JAMA Network Open

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

(2021) Alison J. Hardcastle et al.   Communications Biology

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes

(2021) Erik Fransen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Keratoconus in Africa: A systematic review and meta‐analysis

(2021) Prince Kwaku Akowuah et al.   OPHTHALMIC AND PHYSIOLOGICAL OPTICS

Management of Keratoconus in Down Syndrome and Other Intellectual Disability

(2021) Kirk A. J. Stephenson et al.   CORNEA

Application of a scheimpflug-based biomechanical analyser and tomography in the early detection of subclinical keratoconus in chinese patients

(2021) Yan Liu et al.   BMC Ophthalmology

Anterior pituitary, sex hormones, and keratoconus: Beyond traditional targets

(2021) Dimitrios Karamichos et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Corneal ectasia in mothers of Down syndrome children

(2021) Hassan Hashemi et al.   Scientific Reports

Posterior corneal features in patients with Down syndrome and their relation with keratoconus

(2020) Alfredo Vega-Estrada et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Keratoconus detection by novel indices in patients with Down syndrome: a cohort population-based study

(2020) Hassan Hashemi et al.   JAPANESE JOURNAL OF OPHTHALMOLOGY

Down syndrome

(2020) Stylianos E. Antonarakis et al.   Nature Reviews Disease Primers

Keratoconus and corneal morphology in patients with Down syndrome at a pediatric hospital

(2020) Lauren M. Imbornoni et al.   JOURNAL OF AAPOS

Genetic and Environmental Risk Factors for Keratoconus

(2020) Sionne E.M. Lucas et al.   Annual Review of Vision Science

The keratoconus enigma: A review with emphasis on pathogenesis

(2020) Giulio Ferrari et al.   Ocular Surface

Effect of Down syndrome and keratoconus on corneal density and volume: a triple comparative study

(2020) Soheila Asgari et al.   Scientific Reports

A non-mosaic transchromosomic mouse model of Down syndrome carrying the long arm of human chromosome 21

(2020) Yasuhiro Kazuki et al.   eLife

Ophthalmological abnormalities in Down syndrome among Brazilian patients

(2020) Beatriz Elizabeth Bagatin Veleda Bermudez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The sociodemographic and risk factors for keratoconus: Nationwide matched case-control study in Taiwan, 1998-2015

(2020) Ken-Kuo Lin et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Topographic screening reveals keratoconus to be extremely common in Down syndrome

(2020) Joyce J. Mathan et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin’s family by multi-omics analysis

(2020) Xiao-dan Hao et al.   Orphanet Journal of Rare Diseases

Tomography-based definition of keratoconus for Down syndrome patients

(2020) Soheila Asgari et al.   Eye and Vision

The Proteins of Keratoconus: a Literature Review Exploring Their Contribution to the Pathophysiology of the Disease

(2019) Eleftherios Loukovitis et al.   ADVANCES IN THERAPY

Keratoconus Prevalence Among High School Students in New Zealand

(2019) Alistair T. Papaliʼi-Curtin et al.   CORNEA

Application of Topographical Keratoconus Detection Metrics to Eyes of Individuals with Down Syndrome

(2019) Jason D. Marsack et al.   OPTOMETRY AND VISION SCIENCE

The correlation between keratoconus and eye rubbing: a review

(2019) Hatim Najmi   International Journal of Ophthalmology

Mechanisms of Collagen Crosslinking in Diabetes and Keratoconus

(2019) McKay et al.   Cells

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

(2019) Mariam Lofty Khaled et al.   Scientific Reports

Collagen fibrils and proteoglycans of peripheral and central stroma of the keratoconus cornea - Ultrastructure and 3D transmission electron tomography

(2019) Aljoharah Alkanaan et al.   Scientific Reports

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

(2018) Antonella Izzo et al.   MOLECULAR MEDICINE

Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein

(2018) Rabab Sharif et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Corneal Morphologic Characteristics in Patients With Down Syndrome

(2018) Jorge L. Alio et al.   JAMA Ophthalmology

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo and Wnt pathways in keratoconus corneas

(2017) Michal Kabza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A review of keratoconus: Diagnosis, pathophysiology, and genetics

(2017) Veronica Mas Tur et al.   SURVEY OF OPHTHALMOLOGY

Keratoconus associated with Williams-Beuren syndrome: a new case report

(2017)   International Journal of Ophthalmology

Aberrations in circulating inflammatory cytokine levels in patients with Down syndrome: a meta-analysis

(2017) Yan Zhang et al.   Oncotarget

Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

(2017) Kelly D. Sullivan et al.   Scientific Reports

Molecular and Histopathological Changes Associated with Keratoconus

(2017) Mariam Lotfy Khaled et al.   Biomed Research International

Pediatric keratoconus: a review of the literature

(2017) Sabrina Mukhtar et al.   INTERNATIONAL OPHTHALMOLOGY

Oxidant production and SOD1 protein expression in single skeletal myofibers from Down syndrome mice

(2017) Patrick M. Cowley et al.   Redox Biology

Topographic, tomographic and biomechanical corneal changes during pregnancy in patients with keratoconus: a cohort study

(2016) Mohammad Naderan et al.   ACTA OPHTHALMOLOGICA

Using the mouse to model human disease: increasing validity and reproducibility

(2016) Monica J. Justice et al.   Disease Models & Mechanisms

Clinical profile and main comorbidities of Spanish adults with Down syndrome

(2015) Diego Real de Asua et al.   European Journal of Internal Medicine

Regulation of corneal stroma extracellular matrix assembly

(2015) Shoujun Chen et al.   EXPERIMENTAL EYE RESEARCH

Keratoconus: an inflammatory disorder?

(2015) V Galvis et al.   EYE

Elevated Expression of Matrix Metalloproteinase-9 and Inflammatory Cytokines in Keratoconus Patients Is Inhibited by Cyclosporine A

(2015) R. Shetty et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Collagen VI at a glance

(2015) M. Cescon et al.   JOURNAL OF CELL SCIENCE

Corneal structure and transparency

(2015) Keith M. Meek et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Treatment options for advanced keratoconus: A review

(2015) Jack S. Parker et al.   SURVEY OF OPHTHALMOLOGY

The Genetic and Environmental Factors for Keratoconus

(2015) Ariela Gordon-Shaag et al.   Biomed Research International

Ethnic Variations in Central Corneal Thickness in a Rural Population in China: The Yunnan Minority Eye Studies

(2015) Chen-Wei Pan et al.   PLoS One

Cataract surgery outcomes in adult patients with Down's syndrome: Table 1

(2014) Emmy Y Li et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Analysis of theSOD1Gene in Keratoconus Patients from Saudi Arabia

(2014) Abdulrahman M. Al-Muammar et al.   OPHTHALMIC GENETICS

Impaired Corneal Biomechanical Properties and the Prevalence of Keratoconus in Mitral Valve Prolapse

(2014) Emine Kalkan Akcay et al.   Journal of Ophthalmology

Age-related changes in central corneal thickness in normal eyes among the adult Lithuanian population

(2014) Saulius Galgauskas et al.   Clinical Interventions in Aging

Prevalence of ocular abnormalities in adults with Down syndrome in Hong Kong

(2013) Angie Hon Chi Fong et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Insights into keratoconus from a genetic perspective

(2013) Kathryn P Burdon et al.   Clinical and Experimental Optometry

Keratoglobus

(2013) B S Wallang et al.   EYE

New insights into the pathobiology of Down syndrome - hyaluronan synthase-2 overexpression is regulated by collagen VIα2 chain

(2013) Evgenia Karousou et al.   FEBS Journal

Corneal thickness measured by Scheimpflug imaging in children with Down syndrome

(2013) Lokman Aslan et al.   JOURNAL OF AAPOS

Polymorphism Analysis ofVSX1andSOD1Genes in Greek Patients with Keratoconus

(2013) Marilita M. Moschos et al.   OPHTHALMIC GENETICS

Evaluation of early corneal topographic changes in children with Down syndrome

(2013) Murat ASLANKURT et al.   Turkish Journal Of Medical Sciences

Proteases, proteolysis and inflammatory molecules in the tears of people with keratoconus

(2012) Sivaraman Arumugam Balasubramanian et al.   ACTA OPHTHALMOLOGICA

What Causes Keratoconus?

(2012) Joel Sugar et al.   CORNEA

Central and Peripheral Corneal Thinning in Keratoconus

(2012) Rune L. Brautaset et al.   CORNEA

Effect of oxidative stress on respiratory epithelium from children with Down syndrome

(2012) Martijn Bruijn et al.   EUROPEAN RESPIRATORY JOURNAL

Progression of Keratoconus and Efficacy of Corneal Collagen Cross-linking in Children and Adolescents

(2012) Nico Chatzis et al.   JOURNAL OF REFRACTIVE SURGERY

Mouse Models of Down Syndrome as a Tool to Unravel the Causes of Mental Disabilities

(2012) Noemí Rueda et al.   NEURAL PLASTICITY

Reduction in Corneal Volume with Severity of Keratoconus

(2011) Luisa Simo Mannion et al.   CURRENT EYE RESEARCH

The use of mouse models to understand and improve cognitive deficits in Down syndrome

(2011) I. Das et al.   Disease Models & Mechanisms

Over-Expression of DSCAM and COL6A2 Cooperatively Generates Congenital Heart Defects

(2011) Tamar R. Grossman et al.   PLoS Genetics

Management of keratoconus: current scenario

(2010) V. Jhanji et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse

(2010) Louisa Dunlevy et al.   CARDIOVASCULAR RESEARCH

Central Corneal Thickness in Children With Intellectual Disability: A Controlled Study

(2010) Arsen Akinci et al.   CORNEA

OPHTHALMIC DISORDERS IN CHILDREN WITH DOWN SYNDROME

(2010) Nancy J. Roizen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Biochemical studies of normal and keratoconus corneas

(2009) Hans Oxlund et al.   ACTA OPHTHALMOLOGICA

The expanding role of mouse genetics for understanding human biology and disease

(2008) D. Nguyen et al.   Disease Models & Mechanisms

Refractive errors and strabismus in Asian patients with Down syndrome

(2008) U Kim et al.   EYE