4.6 Article

RP2-Associated X-linked Retinopathy Clinical Findings, Molecular Genetics, and Natural History

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Ophthalmology

Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy

Evgenia Anikina et al.

Summary: The study on microperimetry testing of RPGR-associated retinopathy found high reproducibility and strong interocular correlation, indicating its utility in accurately monitoring disease progression and assessing gene therapy clinical trial outcomes.

AMERICAN JOURNAL OF OPHTHALMOLOGY (2022)

Article Ophthalmology

ISCEV Standard for full-field clinical electroretinography (2022 update)

Anthony G. Robson et al.

Summary: This document presents an updated and revised ISCEV Standard for clinical electroretinogram (ERG) testing. It specifies minimum protocols for ERG stimuli, recording methods, and reporting to ensure consistency and facilitate diagnosis, monitoring, and inter-laboratory comparisons. The main changes include allowing ERGs to meet the Standard without mydriasis and providing more detail on analyzing oscillatory potentials (OPs).

DOCUMENTA OPHTHALMOLOGICA (2022)

Article Ophthalmology

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1

Michalis Georgiou et al.

Summary: Through a study of genetics, electrophysiology, and clinical course in 117 patients, KCNV2-associated retinopathy was found to have early onset, leading to decreased visual acuity and various other symptoms. Full-field ERGs are crucial for diagnosis of the disease, patients require long-term follow-up, and further trials of novel therapeutics are needed.

AMERICAN JOURNAL OF OPHTHALMOLOGY (2021)

Review Ophthalmology

Inherited retinal diseases: Therapeutics, clinical trials and end points-A review

Michalis Georgiou et al.

Summary: Inherited retinal diseases are a group of disorders characterized by photoreceptor degeneration or dysfunction, leading to severe vision loss. The advancements in genetics, retinal imaging, and molecular biology have paved the way for the development of treatments such as gene therapy and ongoing clinical trials targeting various retinal dystrophies. The current research aims to explore novel therapies for these diseases and improve patient outcomes.

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2021)

Article Ophthalmology

Enhanced S-Cone Syndrome Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients

Emanuel R. de Carvalho et al.

Summary: This retrospective study analyzed the clinical data of 56 patients with enhanced S-cone syndrome (ESCS), revealing highly variable phenotype among patients with relative clinical and imaging stability over time. Most electroretinography findings have pathognomonic features, but quantitative assessment shows variability and a normal mean rate of age-related decline, consistent with largely nonprogressive peripheral retinal dysfunction.

OPHTHALMOLOGY RETINA (2021)

Article Cell & Tissue Engineering

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

Amelia Lane et al.

STEM CELL REPORTS (2020)

Article Ophthalmology

Retinal Structure in RPE65-Associated Retinal Dystrophy

Neruban Kumaran et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2020)

Article Ophthalmology

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES A Long-Term Follow-up Study

Mays Talib et al.

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2019)

Article Ophthalmology

Deep Phenotyping of PDE6C-Associated Achromatopsia

Michalis Georgiou et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2019)

Article Ophthalmology

QUANTITATIVE ANALYSIS OF HYPERAUTOFLUORESCENT RINGS TO CHARACTERIZE THE NATURAL HISTORY AND PROGRESSION IN RPGR-ASSOCIATED RETINOPATHY

James J. L. Tee et al.

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2018)

Article Ophthalmology

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

Artur V. Cideciyan et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)

Review Ophthalmology

Adaptive optics imaging of inherited retinal diseases

Michalis Georgiou et al.

BRITISH JOURNAL OF OPHTHALMOLOGY (2018)

Article Biochemistry & Molecular Biology

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Nele Schwarz et al.

HUMAN MOLECULAR GENETICS (2017)

Article Ophthalmology

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa

Julia-Sophia Bellingrath et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)

Review Ophthalmology

RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options

James J. L. Tee et al.

BRITISH JOURNAL OF OPHTHALMOLOGY (2016)

Article Ophthalmology

Reliability of a Manual Procedure for Marking the EZ Endpoint Location in Patients with Retinitis Pigmentosa

Rithambara Ramachandran et al.

TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2016)

Article Biochemistry & Molecular Biology

Mistrafficking of prenylated proteins causes retinitis pigmentosa 2

Houbin Zhang et al.

FASEB JOURNAL (2015)

Article Ophthalmology

Visual Function in Carriers of X-Linked Retinitis Pigmentosa

Jason Comander et al.

OPHTHALMOLOGY (2015)

Article Biochemistry & Molecular Biology

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

Nele Schwarz et al.

HUMAN MOLECULAR GENETICS (2015)

Article Ophthalmology

ISCEV standard for clinical pattern electroretinography (PERG): 2012 update

Michael Bach et al.

DOCUMENTA OPHTHALMOLOGICA (2013)

Article Ophthalmology

A Phenotype-Genotype Correlation Study of X-Linked Retinoschisis

Ajoy Vincent et al.

OPHTHALMOLOGY (2013)

Article Ophthalmology

Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease

Kari Branham et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)

Article Ophthalmology

Resolving the clinical acuity categories hand motion and counting fingers using the Freiburg Visual Acuity Test (FrACT)

C. Lange et al.

GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2009)

Review Medicine, General & Internal

Retinitis pigmentosa

Dyonne T. Hartong et al.

LANCET (2006)

Article Genetics & Heredity

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

D Sharon et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)