Results 231 to 240 of about 153,900 (312)

Association Between Pupil Area and the Efficacy of Peripheral Defocus Spectacle Lenses in Myopia Control. [PDF]

Transl Vis Sci Technol
Zhu J, Yang Z, Sun D, He T, Lin J, Dong Y, Xu J.   +6 more
europepmc   +1 more source

Analysis of biological characteristics of corneal endothelium in old patients with high myopia

, 2014
Yaqiong Chen, Min Zhang, Ming Yue
openalex   +2 more sources

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

Clinical 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, Xin Jin, Jing‐Rao Wang, Shu Wang, Hong Zhang   +4 more
wiley   +1 more source

Heritability of Refractive Error and Familial Aggregation of Myopia in an Elderly American Population

, 2005
Robert Wojciechowski, Nathan Congdon, Heidi Bowie, Beatriz Muñoz, Donna Gilbert, Sheila K. West   +5 more
openalex   +2 more sources

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

Clinical 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, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Evaluating retinal image quality for myopia control lenses in a synthetic accommodative wavefront model. [PDF]

Biomed Opt Express
Mechó-García M, Fernandes P, González-Méijome JM, Faria-Ribeiro M.   +3 more
europepmc   +1 more source

Orthokeratology in Moderate Myopia: A Study of Predictability and Safety

, 2020
Kirti Singh, Mainak Bhattacharyya, Abhishek Goel, Ritu Arora, Nikhil Gotmare, Himshikha Aggarwal   +5 more
openalex   +2 more sources

Embodied myopia. [PDF]

Schmitt, Julien, Van den Bergh, Bram, Warlop, Luk   +2 more
core  

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical 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, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source