Results 41 to 50 of about 15,974 (222)

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

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

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

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, EarlyView.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Responses to standardized electroretinography in Green Monkeys.

, 2014
Data are reported as mean ± SEM (standard error of the mean).Responses to standardized electroretinography in Green Monkeys.
Joseph Bouskila (484984), Maurice Ptito (443825), Jean-François Bouchard (443826), Roberta M. Palmour (652760), Pasha Javadi (117592)   +4 more
core   +1 more source

Intravitreal GD2‐Specific Chimeric Antigen Receptor T‐Cell Therapy for Refractory Retinoblastoma

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Effective treatments for advanced, treatment‐resistant retinoblastoma (RB) remain limited. GD2‐specific chimeric antigen receptor (CAR) T cells show potent antitumor activity with minimal toxicity but have not previously been evaluated in RB.
Subongkoch Subhadhirasakul, Jatuporn Sujjitjoon, Pa‐thai Yenchitsomanus, Kridtin Jarutatsanangkoon, Ng Wei Loon, Kleebsabai Sanpakit, Jassada Buaboonnam, Chayamon Takpradit, Pornpimon Yuti, Nunghathai Sawasdee, Piriya Luangwattananun, Siripakorn Sangkitporn, Arnan Limmahachai, La‐ongsri Atchaneeyasakul   +13 more
wiley   +1 more source

Impaired Ganglion Cell Function Objectively Assessed by the Photopic Negative Response in Affected and Asymptomatic Members From Brazilian Families With Leber's Hereditary Optic Neuropathy

Frontiers in Neurology, 2021
Purpose: The photopic negative response (PhNR) is an electrophysiological method that provides retinal ganglion cell function assessment using full-field stimulation that does not require clear optics or refractive correction.
Gabriel Izan Santos Botelho, Solange Rios Salomão, Célia Harumi Tengan, Rustum Karanjia, Rustum Karanjia, Rustum Karanjia, Rustum Karanjia, Felipo Victor Moura, Daniel Martins Rocha, Paula Baptista Eliseo da Silva, Arthur Gustavo Fernandes, Sung Eun Song Watanabe, Paula Yuri Sacai, Rubens Belfort, Rubens Belfort, Valerio Carelli, Alfredo Arrigo Sadun, Alfredo Arrigo Sadun, Adriana Berezovsky   +18 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Two Cases of Fibrin Membrane‐Induced Pupillary Block Treated With Neodymium‐Doped Yttrium Aluminium Garnet (Nd:YAG) Laser After Cataract Surgery in Dogs

Veterinary Medicine and Science, Volume 12, Issue 4, July 2026.
This study evaluates the clinical efficacy of Nd:YAG laser membranotomy in dogs with fibrin membrane‐induced pupillary block (FMPB). Targeted application of the Nd:YAG laser safely disrupts the obstructive pupillary membrane, thereby restoring normal aqueous humour outflow and effectively resolving secondary intraocular pressure (IOP) elevation without
Haerin Yoon, Jiyi Hwang, Ji Seung Jung, Myeon‐Jee Kwon, Jungyeon Yong, Sungin Lee, Kyung‐Mee Park   +6 more
wiley   +1 more source

Retinal Screening of Workers Exposed to Mercury Vapor Using Electroretinography

, 2022
Background: Mercury vapor is a harmful agent affecting the nervous, digestive, and immune systems. The visual system may also be affected due to exposure to mercury vapor.
Adhami-Moghadam, Farhad, Talebi-Bidhendi, Shima, Shushtarian, Seyed Mohammad Masoud   +2 more
core   +1 more source