Results 121 to 130 of about 309,795 (229)

A Review of Artificial Intelligence in Ophthalmology: Key Aspects, Challenges, and Future Directions

open access: yesEye &ENT Research, Volume 3, Issue 3, Page 125-154, September 2026.
ABSTRACT Artificial intelligence (AI) is increasingly reshaping ophthalmology because the specialty depends heavily on structured imaging, quantitative measurements, and repeatable diagnostic workflows. This review provides a clinically grounded and translationally oriented synthesis of AI in ophthalmology, covering methodological foundations ...
Partha Pratim Ray
wiley   +1 more source

Congenital Cataract a review of the literature

open access: yes, 2014
This article explores congenital cataract with emphasis on the effectiveness of early screening, diagnosis, pre-assessment and the timing of surgery. Congenital cataract is a rare condition.
Cooney, Alison, McCutcheon, Karen
core   +1 more source

Hippocampal Subfield Volumetry and Navigation in Congenital Blindness

open access: yesHippocampus, Volume 36, Issue 5, September 2026.
ABSTRACT The hippocampus is essential for efficient navigation. Although lack of visual experience from birth induces volumetric and structural modifications to the hippocampus, tactile and auditory navigation remain partially preserved in congenitally blind (CB) individuals.
Daniel‐Robert Chebat   +3 more
wiley   +1 more source

Genomic Profiling of Anophthalmia/Microphthalmia‐Associated CNVs Reveals Complex Genotype–Phenotype Correlations and Incomplete Penetrance

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Genomic profiling of four families with anophthalmia/microphthalmia‐associated copy number variations (CNVs) revealed marked phenotypic variability, including incomplete penetrance of OTX2‐related microphthalmia. These findings highlight the importance of phenotype‐driven interpretation of CNVs beyond standard pathogenicity scoring.
Dong Wu   +7 more
wiley   +1 more source

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Addressing the Gap: First trio‐based WES study of ASD in Rwanda, addressing African underrepresentation in global genomics. Diagnostic Yield: 12.9% yield of clinically relevant variants, consistent with global benchmarks (10%–30%). Genetic Findings: Confirmed de novo likely pathogenic variants identified in high‐impact ASD genes, including SYNGAP1 and ...
Olivier Hakizimana   +16 more
wiley   +1 more source

MEDICAL SOCIAL CHARACTERISTICS OF REHABILITATION OPPORTUNITIES IN MODERN SURGERY OF CONGENITAL CATARACT WITH A PRIMARY IOL IMPLANTATION IN CHILDREN OF THE FIRST YEAR OF LIFE

open access: yesОфтальмохирургия, 2015
Purpose. To study medical social rehabilitation possibilities of the congenital cataract surgery with primary IOL implantation in children of thoracal age.Material and methods.
A. V. Vasiliev   +2 more
doaj  

Individuals born with congenital cataracts exhibit both persisting impairment and considerable recovery of white matter microstructure after sight restoration

open access: yesAperture Neuro
Individuals born with dense bilateral cataracts, for whom sight was restored later in life (congenital cataract reversal individuals), provide a unique opportunity to explore the impact of early (visual) experience on the development of the human brain.
Jordan D. Hassett   +4 more
doaj   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

open access: yesThe Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan   +9 more
wiley   +1 more source

Development of Secondary Glaucoma After Congenital Cataract Surgery and the Underlying Risk Factors

open access: yes, 2011
Pur po se: To determine the risk factors and incidence of glaucoma following congenital cataract surgery in our case series. Patients and Methods: Records of children who underwent cataract surgery between January 2001 and December 2009 were reviewed ...
Feyza Önder   +2 more
core   +1 more source

Decoding neurodevelopment risks of exposures to intoxication, infection, and trauma during pregnancy

open access: yesPregnancy, Volume 2, Issue 5, September 2026.
Abstract The maternal environment plays a pivotal role in fetal neurodevelopment, but adverse conditions during pregnancy may disrupt key developmental processes. Conditions such as intoxication, infection, or trauma during pregnancy have been associated with impaired fetal oxygenation, altered immune signaling, and disrupted placental function, which ...
Brenda E. Lujan   +7 more
wiley   +1 more source

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