Results 61 to 70 of about 64,976 (308)

Validation of a New Test for Measuring the Contrast Sensitivity Function (Optopad-CSF) at Near Vision

Diagnostics
Our purpose is to develop and validate a new iPad-based contrast sensitivity (CS) test for measuring the contrast sensitivity function at near vision (Optopad-CSF).
Dolores de Fez, Celia García, Maria Josefa Luque-Cobija, Kevin J. Mena-Guevara, Paula Daudén, David P. Piñero   +5 more
doaj   +1 more source

Cataract extraction surgery in patients with uveitis in Taiwan: Risk factors and outcomes

Journal of the Formosan Medical Association, 2014
To analyze the preoperative conditions and postoperative outcomes of phacoemulsification and intraocular lens implantation in Taiwanese patients with uveitis.
Chang-Pin Lin, Po-Ting Yeh, Ping-Fang Chen, Chung-May Yang, Fung-Rong Hu   +4 more
doaj   +1 more source

Cerebrotendinous xanthomatosis and infertility: A case report

Clinical Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues.
Narges Karimi, Zahra Amiri, Sima Naeini, Ali Asghar Okhovat   +3 more
doaj   +1 more source

Genetic models for cataracts.

, 2013
Opacities of the eye lens (cataracts) are well known as congenital (and mainly hereditary) disorders and as age-related and rather complex diseases. For the hereditary, congenital forms, the mouse is actually the model of choice; however, for the rather ...
Graw, J.
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Visual outcomes with a non-diffractive enhanced depth-of-focus IOL in patients with age-related macular degeneration

Frontiers in Medicine
PurposeTo evaluate visual function in eyes with age-related macular degeneration (AMD) implanted with a non-diffractive enhanced depth-of-focus (EDOF) intraocular lens (IOL) after cataract surgery.DesignProspective, observational, non-randomized clinical
Juan Carlos Elvira, Patricia Devesa, Belén Elvira-Giner, Pedro Tañá-Sanz, Paz Orts-Vila, Pedro Tañá-Rivero   +5 more
doaj   +1 more source

The regulatory role of microRNAs in common eye diseases: A brief review

Frontiers in Genetics, 2023
MicroRNAs (miRNAs) are highly conserved, small non-coding RNA molecules (∼21 nucleotides) that regulate numerous biological processes, including developmental timing, hematopoiesis, organogenesis, apoptosis, cell differentiation, and proliferation either
Javier A. Benavides-Aguilar, Jonathan I. Morales-Rodríguez, Héctor Ambriz-González, Luis M. Ruiz-Manriquez, Luis M. Ruiz-Manriquez, Antara Banerjee, Surajit Pathak, Asim K. Duttaroy, Sujay Paul   +8 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Restoring Glutathione Homeostasis in Glycation-Related Eye Diseases: Mechanistic Insights and Therapeutic Interventions Beyond VEGF Inhibition

Antioxidants
Advanced glycation end-products (AGEs) and oxidative stress are recognized as central contributors to the pathogenesis of age-related or diabetic cataracts, diabetic retinopathy (DR), and age-related macular degeneration (AMD).
Yong Chool Boo
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source