Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

Purpose: To investigate the clinical features, natural course, and genetic characteristics of Koreans with rhodopsin-associated retinitis pigmentosa (RHO-associated RP).Design: We conducted a retrospective, multicenter, observational cohort study.Participants: We reviewed the medical records of 42 p...

Full description

Bibliographic Details
Main Authors:	Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon Woo
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-08-01
Series:	Frontiers in Genetics
Subjects:	retinitis pigmentosa rhodopsin generalized retinitis pigmentosa sector retinitis pigmentosa Koreans
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1240067/full

Similar Items

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa
by: Brian G. Ballios, et al.
Published: (2021-11-01)

Neuroinflammation as a Therapeutic Target in Retinitis Pigmentosa and Quercetin as Its Potential Modulator
by: Joseph Thomas Ortega, et al.
Published: (2021-11-01)

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in <i>Rhodopsin</i>
by: Maria Kaukonen, et al.
Published: (2022-07-01)

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies
by: Fangyuan Zhen, et al.
Published: (2023-04-01)

Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa
by: T.J. Hollingsworth, et al.
Published: (2021-08-01)

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report
by: Hyun Woo Lee, et al.
Published: (2023-05-01)

Retinitis Pigmentosa Masquerades: Case Series and Review of the Literature
by: Abinaya Thenappan, et al.
Published: (2023-08-01)

Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa
by: Mei Nakahara, et al.
Published: (2021-03-01)

Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy
by: T.J. Hollingsworth, et al.
Published: (2020-03-01)

Retinitis pigmentosa: A Case Report with Thr17Arg as a Novel Mutation in RHO Gene.
by: sajjad Rafiee Komachali, et al.
Published: (2022-03-01)

Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas
by: Izabella Karska-Basta, et al.
Published: (2021-08-01)

Comparative Analysis of Functional and Structural Decline in Retinitis Pigmentosas
by: Thiago Cabral, et al.
Published: (2020-04-01)

Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa
by: Laura Kuehlewein, et al.
Published: (2021-02-01)

X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review
by: Aoi Kuroda, et al.
Published: (2023-12-01)

Thicknesses of the retina and choroid in children with retinitis pigmentosa
by: Cheng Li, et al.
Published: (2023-01-01)

Effects of Epigenetic Modification of PGC-1α by a Chemical Chaperon on Mitochondria Biogenesis and Visual Function in Retinitis Pigmentosa
by: Yoko Ozawa, et al.
Published: (2022-04-01)

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
by: Dong Geun Kim, et al.
Published: (2023-05-01)

Detailed Evaluation of Chromatic Pupillometry and Full-Field Stimulus Testing to Assess Ultralow Vision in Retinitis Pigmentosa
by: Midori Yamamoto, et al.
Published: (2023-12-01)

Effect of Sodium Valproate on the Conformational Stability of the Visual G Protein-Coupled Receptor Rhodopsin
by: Neda Razzaghi, et al.
Published: (2021-05-01)

Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa
by: Samantha R. De Silva, DPhil, FRCOphth, et al.
Published: (2024-03-01)

Polyphenols and Visual Health: Potential Effects on Degenerative Retinal Diseases
by: Pol Fernandez-Gonzalez, et al.
Published: (2021-06-01)

Development of all-in-one CRISPR/Cas9 and CRISPRi AAV constructs to treat autosomal dominant retinitis pigmentosa
by: Peddle, CF
Published: (2021)

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
by: Wei Xu, et al.
Published: (2023-01-01)

Retinitis Pigmentosa (RP): The Role of Oxidative Stress in the Degenerative Process Progression
by: Enzo M. Vingolo, et al.
Published: (2022-03-01)

Intravitreal Dexamethasone Implant (Ozurdex) for Refractory Macular Edema Secondary to Retinitis Pigmentosa
by: Nurgül Örnek, et al.
Published: (2016-08-01)

Genetic and Clinical Evaluation of Retinitis Pigmentosa
by: Leyla Eryiğit Eroğul, et al.
Published: (2022-09-01)

An Argus II Case Report
by: İrfan Perente, et al.
Published: (2017-05-01)

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing
by: Ting-Yi Lin, et al.
Published: (2021-05-01)

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort
by: Yoon-Jeon Kim, et al.
Published: (2021-04-01)

<i>RPE65</i> c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy
by: Mirjana Bjeloš, et al.
Published: (2022-09-01)

Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
by: Cathrine Jespersgaard, et al.
Published: (2020-12-01)

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
by: Yi-shuang Xiao, et al.
Published: (2023-06-01)

Mechanisms of Photoreceptor Death in Retinitis Pigmentosa
by: Fay Newton, et al.
Published: (2020-09-01)

A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report
by: Nasrin Mansouri, et al.
Published: (2023-11-01)

Metabolic rescue of cone photoreceptors in retinitis pigmentosa
by: Henry J Kaplan, et al.
Published: (2021-01-01)

Retinitis Pigmentosa: From Pathomolecular Mechanisms to Therapeutic Strategies
by: Enzo Maria Vingolo, et al.
Published: (2024-01-01)

A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases
by: Hong-Dou Luo, et al.
Published: (2023-12-01)

The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies
by: Valentina Becherucci, et al.
Published: (2023-09-01)

An Optical Coherence Tomography-Based Measure as an Independent Estimate of Retinal Function in Retinitis Pigmentosa
by: Manuel Paez-Escamilla, et al.
Published: (2023-11-01)

Amoeboid pattern of posterior subcapsular cataract – Novel morphology in retinitis pigmentosa!
by: Shalin Shah, et al.
Published: (2023-01-01)