Results 91 to 100 of about 60,943 (273)

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene

Scientific Reports
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance.
Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, Francesco Parmeggiani   +12 more
doaj   +1 more source

Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report

Journal of Medical Case Reports, 2008
Introduction Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.
Jayaram Hari, Downes Susan M
doaj   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Artificial intelligence‐quantified schisis volume as a structural endpoint for gene therapy clinical trials in X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose To use artificial intelligence (AI) for quantifying schisis volume (ASV) in X‐linked retinoschisis (XLRS) for use as a structural endpoint in gene therapy clinical trials. Methods We used data from Singapore, the United Kingdom, the Netherlands, and the United States. The AI model was developed on 250 optical coherence tomography (OCT)
Tien‐En Tan, Peilun Dai, Jonathan Hensman, Peter Kiraly, Beau J. Fenner, Yong Liu, Rick S. M. Goh, Ian C. Han, Daniel S. W. Ting, Camiel J. F. Boon, M. Dominik Fischer   +10 more
wiley   +1 more source

Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa.

Investigative Ophthalmology and Visual Science, 2018
Purpose We investigated whether fundus autofluorescence (FAF) lifetimes in patients with retinitis pigmentosa display a disease-specific lifetime pattern.
C. Dysli, Kaspar Schürch, Escher Pascal, S. Wolf, M. Zinkernagel   +4 more
semanticscholar   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, EarlyView.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source

Validation of a deep learning model for the automated detection and quantification of cystoid macular oedema on optical coherence tomography in patients with retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Accurate assessment of cystoid macular oedema (CMO) in patients with retinitis pigmentosa (RP) on spectral‐domain optical coherence tomography (SD‐OCT) is crucial for tracking disease progression and may serve as a therapeutic endpoint. Manual CMO segmentation is labour‐intensive and prone to variability, making artificial intelligence
Hind Almushattat, Jonathan Hensman, Yasmine el Allali, Coen de Vente, Clara I. Sánchez, Camiel J. F. Boon   +5 more
wiley   +1 more source

Test–retest variability of the full‐field stimulus test in patients with retinitis pigmentosa: REPEAT Study Report No. 4

Acta Ophthalmologica, EarlyView.
Abstract Purpose To evaluate test–retest variability (TRV) of the full‐field stimulus test (FST) in patients with retinitis pigmentosa (RP) and poor best‐corrected visual acuity (BCVA; ≤20/50 Snellen; ≥0.40 logMAR), and to assess the reliability of FST as a clinical endpoint in future RP trials.
J. S. Karuntu, S. B. A. E. Tulp, C. J. F. Boon   +2 more
wiley   +1 more source

Photobiomodulation therapy as a new hope therapy for retinitis pigmentosa: a systematic review

Revista Brasileira de Oftalmologia
Retinitis pigmentosa is one of the leading causes of hereditary blindness in developed countries and unfortunately there is currently no cure. Photobiomodulation therapy can penetrate the retina and optic nerve and restore the function of damaged ...
Ivana Beatrice Alberta, Yufilia Suci Amelia, Airina Stefanie   +2 more
doaj   +1 more source

Phosphodiesterase 3 inhibitors boost bone outgrowth

British Journal of Pharmacology, EarlyView.
Background and Purpose C‐type natriuretic peptide (CNP) stimulates skeletal growth by acting on the growth plates of long bones, and a CNP variant is clinically used for achondroplasia treatment. We previously reported that CNP stimulates the autonomic Ca2+ influx mediated by TRPM7 channels in growth plate chondrocytes to facilitate extracellular ...
Takaaki Kawabe, Atsuhiko Ichimura, Tomoki Yasue, Jianhong Li, Haruki Ishikawa, Ga Eun Kim, Hiroki Nagatomo, Naoto Minamino, Yohei Ueda, Hiromu Ito, Miyuki Nishi, Hiroshi Takeshima   +11 more
wiley   +1 more source