Results 141 to 150 of about 9,790 (283)

Pathological myopia classification with simultaneous lesion segmentation using deep learning [PDF]

, 2020
Ruben Hemelings, Bart Elen, Matthew B. Blaschko, Julie A. Jacob, Ingeborg Stalmans, Patrick De Boever   +5 more
openalex   +1 more source

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

Clinical Profile of posterior segment in high Myopia

Journal of Nepal Health Research Council
Background: Myopia is a growing global health concern, with prevalence surging, especially in East and Southeast Asia. The World Health Organization identifies high myopia as -5.00 diopter or less, carrying an elevated risk of irreversible blindness. In
Raju Kaiti, Birkha Bogati, Ranjila Shyangbo, Simanta Khadka, Priya Bajgai   +4 more
doaj   +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

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Spontaneously Myopic Guinea Pig: Model of Early Pathologic Myopia. [PDF]

Invest Ophthalmol Vis Sci, 2023
Zhang Y, Tang W, Liang J, Zhou X, Chen S, Zhi Z.   +5 more
europepmc   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source

Intravitreal aflibercept for the treatment of choroidal neovascularization associated with pathologic myopia: a pilot study

Clinical Ophthalmology, 2016
Andrii R Korol, Oleg S Zadorozhnyy, Volodymyr O Naumenko, Taras B Kustryn, Nataliya V Pasyechnikova The Filatov Institute of Eye Diseases and Tissue Therapy of the National Academy of Medical Sciences of Ukraine, Odessa, Ukraine Purpose: To determine ...
Korol AR, Zadorozhnyy OS, Naumenko VO, Kustryn TB, Pasyechnikova NV   +4 more
doaj  

Profuse nocturnal eyelid haemorrhage from a spider angioma

Acta Ophthalmologica, EarlyView.
Ype P. de Jong, Paulus T. V. M. de Jong
wiley   +1 more source

Should Firms Avoid Relying on Key Employees? Evidence From Inventors

European Financial Management, EarlyView.
ABSTRACT Analysing inventor careers in U.S. public firms, we find that higher inventor‐base concentration enhances corporate innovation productivity in subsequent years, a relationship that remains consistent across various model specifications. Concentration improves the retention of individual inventors and teams, supporting the employee retention ...
Jin Wang
wiley   +1 more source