Results 111 to 120 of about 60,803 (278)

Predictive Correction Model for Corneal Back Surface Astigmatism With IOLMaster700 Keratometry Data in a Cataractous Population

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To develop and validate various models to predict total keratometry (TK) power vector components TKC0 and TKC45 from classical keratometry (K) KC0 and KC45 based on a large dataset of pre cataract surgery IOLMaster 700 measurements.
Achim Langenbucher   +10 more
wiley   +1 more source

Corneal Curvature, Astigmatism, and Aberrations in Marfan Syndrome with Lens Subluxation: Evaluation by Pentacam HR System

open access: yesScientific Reports, 2018
Marfan syndrome (MFS) is associated with abnormalities of corneal biometric characteristics. We conducted a retrospective case-control study including 55 eyes of the MFS patients with lens subluxation and 53 normal eyes of the control subjects to ...
Jiahui Chen   +5 more
semanticscholar   +1 more source

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

open access: yesClinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti   +17 more
wiley   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

open access: yesClinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel   +10 more
wiley   +1 more source

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

open access: yesClinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao   +4 more
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

open access: yesClinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart   +17 more
wiley   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

open access: yesClinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams   +14 more
wiley   +1 more source

Selective suture cutting for control of astigmatism following cataract surgery

open access: yesIndian Journal of Ophthalmology, 1992
Use of 10-0 monofilament nylon in ECCE cataract surgery leads to high with the rule astigmatism. Many intraoperative and post operative methods have been used to minimise post operative astigmatism.
Bansal R, Gupta Amod, Grewal SPS
doaj  

Combined Femtosecond Laser-Assisted Keratotomy and Cataract Surgery for Enhancing Refractive Outcomes. An Indonesian Case Study

open access: yesClinical Ophthalmology, 2023
Viona Viona,1,* Iwan Soebijantoro,2,* Tjahjono D Gondhowiardjo3,* 1Department of Research, Jakarta Eye Center (JEC) Eye Hospitals and Clinics, Jakarta, Indonesia; 2Department of Glaucoma, Jakarta Eye Center (JEC) Eye Hospitals and Clinics ...
Viona V   +2 more
doaj  

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