Results 131 to 140 of about 9,726 (289)

Health Economic Considerations for the Implementation of Artificial Intelligence‐Enabled Diabetic Retinopathy Screening: A Review

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Artificial intelligence (AI) has comparable accuracy to ophthalmologists for diabetic retinopathy (DR) screening, yet its cost‐effectiveness is crucial for implementation. Our review of 18 health economic analyses of AI versus manual grading for DR found significant methodological variation, with cost‐utility analysis and Markov modelling ...
James Leigh, Jocelyn Drinkwater, Angus Turner, Elizabeth‐Ann Schroeder   +3 more
wiley   +1 more source

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

Intravitreal Avastin for choroidal neovascularisation in pathological myopia: the controversy continues [PDF]

, 2007
Philip J. Rosenfeld
openalex   +1 more source

Topiramate‐induced acute angle closure with suprachoroidal effusion: Insights from a novel ultra‐wide‐field OCT device

Acta Ophthalmologica, EarlyView.
Michael Hafner, Nicolas Pensel, Nicolas C. D. Scherer, Marc J. Mackert, Siegfried G. Priglinger, Leonie F. Keidel, Maximilian J. Gerhardt   +6 more
wiley   +1 more source

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

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

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

Angiographic features after photodynamic therapy for choroidal neovascularisation in age related macular degeneration and pathological myopia [PDF]

, 2003
Maurízio Battaglia Parodi
openalex   +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