Antioxidants, 2020 Endogenous antioxidants protect cells from reactive oxygen species (ROS)-related deleterious effects, and an imbalance in the oxidant/antioxidant systems generates oxidative stress.
Luigi Donato +6 more
doaj +1 more source
Retinitis pigmentosa: evaluation of the vestibular system with cervical and ocular vestibular evoked myogenic potentials and the video head impulse test [PDF]
, 2015 OBJECTIVE: Retinitis pigmentosa (RP) represents a group of inherited disorders in which abnormalities of the photoreceptors lead to progressive visual loss.
GAGLIARDI, SILVIA +6 more
core +1 more source
Mesopic microperimetry in Stargardt disease: Application and reliability
Acta Ophthalmologica, EarlyView.Abstract Purpose Mesopic microperimetry (mMP) is a promising functional endpoint in clinical trials for Stargardt disease type 1 (STGD1). This study evaluated the test–retest variability of mMP and influencing factors, which is essential for ensuring reliability in future STGD1 trials.
Sybren H. Kootstra +12 more
wiley +1 more source
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]
, 2016 PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed +11 more
core +5 more sources
Revista Cubana de Oftalmología, 1999 Con el objetivo de clasificar a los pacientes con Retinosis Pigmentaria y a sus respectivas familias según la herencia y exponer el valor de dicha clasificación, se realizó un estudio descriptivo con 354 individuos afectados, distribuidos en 191 familias
Elisa Dyce Gordon +2 more
doaj
Peripheral Inflammatory Yellow Exudative Retinal Coats-Like Vitreoretinopathy Misdiagnosed as Acute Retinal Necrosis in a Retinitis Pigmentosa Patient after Cataract Surgery [PDF]
, 2021 Lara Tran +3 more
openalex +1 more source
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 +11 more
wiley +1 more source
Unilateral retinitis pigmentosa: case report
Revista de Medicina da UFC, 2015 Unilateral retinitis pigmentosa (URP) is a rare tapetoretinal dystrophy affecting only one eye. Criteria are necessary to make a correct diagnosis of URP: exclude all infective etiologies, check that the clinical signs of retinitis are present in the ...
Ricardo Evangelista Marrocos de Aragao +4 more
doaj +1 more source
Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing [PDF]
, 2021 Ting‐Yi Lin +14 more
openalex +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source