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HSP90 stabilizes visual cycle retinol dehydrogenase 5 in the endoplasmic reticulum by inhibiting its degradation during autophagy.
J Biol Chem
December 2024
The Laboratory of Ophthalmology and Vision Science, Department of Ophthalmology, The Joint National Laboratory of Antibody Drug Engineering, Henan Province Engineering Research Center of Fundus Disease and Ocular Trauma Prevention and Treatment, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China; Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Zhengzhou, China; Kaifeng Key Lab for Cataracts and Myopia, Kaifeng Central Hospital, Kaifeng, China; Eye Institute, Henan Academy of Innovations in Medical Science, Zhengzhou, China. Electronic address:
Genetic mutations in retinol dehydrogenase 5 (RDH5), a rate-limiting enzyme of the visual cycle, is associated with nyctalopia, AMD and stationary congenital fundus albipunctatus (FA). A majority of these mutations impair RDH5 protein expression and intracellular localization. However, the regulatory mechanisms underlying RDH5 metabolism remain unclear.
View Article and Find Full Text PDFCase report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFModeling monocular form deprivation in rabbits using a simulated-cataract intraocular lens.
Int J Ophthalmol
December 2024
Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou 325003, Zhejiang Province, China.
Aim: To establish an animal model of form deprivation amblyopia based on a simulated cataract intraocular lens (IOLs).
Methods: Poly(dimethyl siloxane)-SiO thin films (PSF) with different degrees of opacity as IOL materials were prepared. The light transmission of the PSF-IOL was measured, and its biosafety was determined by cell counting kit (CCK)-8 assay using the HLEC-B3 cell line and ARPE-19 cell line.
Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
J Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
View Article and Find Full Text PDFA brief effective screening protocol for identifying cataract patients with binocular vision anomalies.
BMC Ophthalmol
December 2024
Pennsylvania College of Optometry at Drexel University, Elkins Park, PA, USA.
Background: To compare the effectiveness of a brief binocular vision screening protocol to a comprehensive examination for detecting binocular vision anomalies before and after cataract surgery.
Methods: A comprehensive binocular vision test battery as a gold standard were administered on recruited patients before the first surgery and at the third visit after surgery on the second eye. A receiver operating characteristic (ROC) curve was plotted to illustrate the diagnostic ability of each test.
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