Results 31 to 40 of about 12,750 (179)

Improved electroretinographic responses following dietary intervention in a patient with Refsum disease

JIMD Reports, 2020
Refsum disease is a rare inherited metabolic disorder arising from a defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl‐CoA hydroxylase, resulting in perturbed alpha oxidation of fatty acids.
Matthew D. Benson, Ian M. MacDonald, Melissa Sheehan, Shailly Jain   +3 more
doaj   +1 more source

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 more
wiley   +1 more source

Electroretinography in glaucoma diagnosis [PDF]

Current Opinion in Ophthalmology, 2016
Electrophysiological measures of vision function have for decades generated interest among glaucoma researchers and clinicians alike because of their potential to help elucidate pathophysiological processes and sequence of glaucomatous damage, as well as to offer a potential complementary metric of function that might be more sensitive than standard ...
Laura J, Wilsey, Brad, Fortune
openaire   +2 more sources

Single‐Cell Annotation and Localization via Integrating Spatial Transcriptomics Maps the Mouse Ocular Atlas and RAO Dynamics

Advanced Science, EarlyView.
We developed the ASCAL pipeline, integrating complementary spatial transcriptomics, to construct a high‐fidelity mouse whole‐eye single‐cell atlas. Applying ASCAL to a retinal artery occlusion (RAO) model revealed spatially restricted immune activation localized to the ganglion cell layer and the selective depletion of a translationally active, outer ...
Chen Du, Yinming Li, Ziyue Li, Yuedan Wang, Shaopeng Li, Yijie Wang, Yingying Qu, Bingyang Lv, Ying Li, Ting Chen, Yu Zhou, Xuan Xiao   +11 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Subcellular localization of mutant P23H rhodopsin in an RFP fusion knock-in mouse model of retinitis pigmentosa

Disease Models & Mechanisms, 2022
The P23H mutation in rhodopsin (Rho), the rod visual pigment, is the most common allele associated with autosomal-dominant retinitis pigmentosa (adRP). The fate of misfolded mutant Rho in rod photoreceptors has yet to be elucidated.
Michael A. Robichaux, Vy Nguyen, Fung Chan, Lavanya Kailasam, Feng He, John H. Wilson, Theodore G. Wensel   +6 more
doaj   +1 more source

Bile acid metabolism and signaling in human and animal health: A One Health perspective

iMetaOmics, EarlyView.
Bile acids maintain host homeostasis through enterohepatic circulation, microbial transformation, and bile acid receptor signaling, thereby regulating glucose and lipid metabolism, intestinal barrier integrity, and immunity. These effects support human disease intervention and health‐oriented animal production, reducing drug dependence and residue ...
Lei Li, Shuai Liu, Zhijun Cao, Yangchun Cao, Shengru Wu, Lu Deng, Junhu Yao, Jun Zhang   +7 more
wiley   +1 more source

Rituximab Monotherapy versus Rituximab and Bortezomib Combination Therapy for Treatment of Non-paraneoplastic Autoimmune Retinopathy

Journal of Ophthalmic & Vision Research, 2022
Purpose: To study whether rituximab and bortezomib combination therapy is more effective than rituximab monotherapy in the treatment of non-paraneoplastic autoimmune retinopathy (npAIR).
Arash Maleki, Amanda Colombo, Sydney Look-Why, BA; Peter Y Chang, Stephen D Anesi, Stephen D Anesi   +5 more
doaj   +1 more source

Artificial intelligence, equity, and pediatric neurodevelopmental disorders: A scoping review of clinical practice applications

Pediatric Investigation, EarlyView.
Artificial intelligence (AI) is being explored to support diagnosis and care for pediatric neurodevelopmental disorders, yet most tools remain in early stages of development. This scoping review identifies limited external validation, narrow population representation, and sparse equity considerations, underscoring the need for inclusive, clinically ...
Florida Uzoaru, Obinna O. Oleribe, Ucheoma Nwaozuru, Parichart Sabado   +3 more
wiley   +1 more source

Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease

Acta Ophthalmologica, EarlyView.
Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor, Amandeep S. Josan, Daniel A O Adeyoju, Isabella Farrance, Robert E. MacLaren   +4 more
wiley   +1 more source