Results 91 to 100 of about 43,285 (257)

Risk Factors for Strabismus Surgery after Pediatric Cataract Surgery in the United States

open access: yesOphthalmology Science, 2023
Purpose: To determine the cumulative incidence of strabismus surgery after pediatric cataract surgery and identify the associated risk factors. Design: US population-based insurance claims retrospective cohort study. Participants: Patients ≤ 18 years old
Bryce Hwang, MD   +2 more
doaj  

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

open access: yesClinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut   +7 more
wiley   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

open access: yesClinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl   +15 more
wiley   +1 more source

Effect of Trabeculodescemetic Window Perforation in Deep Sclerectomy on Intraocular Pressure in Primary Congenital Glaucoma

open access: yesOphthalmology and Therapy
Introduction Primary congenital glaucoma causes vision loss if intraocular pressure is uncontrolled. Nonpenetrating deep sclerectomy is effective in treating primary congenital glaucoma.
Abdulaziz AlQattan   +4 more
doaj   +1 more source

CONVERGENT STRABISMUS. [PDF]

open access: green, 1897
ALFRED HINDE
openalex   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

open access: yesClinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman   +11 more
wiley   +1 more source

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

open access: yesClinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm   +24 more
wiley   +1 more source

Systolic hypertension as side effect of topical low dose atropine drops

open access: yesAmerican Journal of Ophthalmology Case Reports
Purpose: To present a case of increased systemic hypertension and pupil dilation related to low dose atropine eyedrops. Observations: A thirteen-year-old male with progressive myopia received atropine 0.05% ophthalmic drops to slow down myopia ...
Barry N. Wasserman   +3 more
doaj  

Home - About - Disclaimer - Privacy