Results 71 to 80 of about 1,104 (159)

Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy

Ophthalmic Genetics, 2020
The GUCY2D gene encodes the photoreceptor guanylate cyclase (GC-E) and different pathogenic variants can lead to Leber congenital amaurosis (LCA) or cone-rod dystrophy (CRD). In this study, we describe three unrelated families who carried different mutations at codon 838 of the GUCY2D gene, and presented different phenotypes of retinal degeneration ...
Shijing Wu, Tian Zhu, Hui Li, Zixi Sun, Hong Du, Ruifang Sui, Xing Wei   +6 more
openaire   +3 more sources

Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel

Molecular Genetics &Genomic Medicine, Volume 12, Issue 12, December 2024.
A gene panel, supplemented by deep intronic variant screening, genetically resolved 56% of South African inherited retinal disease patients, including 49% of indigenous Africans. This approach was successfully applied in a low‐resource setting, and contributes knowledge from the understudied, genetically diverse African population.
Nicole Midgley, George Rebello, Lara K. Holtes, Raj Ramesar, Lisa Roberts   +4 more
wiley   +1 more source

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. [PDF]

PLoS ONE, 2011
BACKGROUND: Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far, full spectrum of variations in the 15 genes known to cause LCA has not been systemically evaluated in East Asians. Therefore,
Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J Fielding Hejtmancik   +8 more
doaj   +1 more source

Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Dual sensory impairment, commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting with its unique set of clinical characteristics. Our understanding of dual sensory impairment has expanded significantly in the past decade, broadening the scope of genetic differential diagnoses ...
Yi Zhai, Brian G. Ballios
wiley   +1 more source

Genetic testing for Leber congenital amaurosis

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Leber congenital amaurosis (LCA).
Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Exploring the Potential and Challenges of CRISPR Delivery and Therapeutics for Genetic Disease Treatment

Advanced Functional Materials, Volume 34, Issue 38, September 18, 2024.
The review outlines CRISPR's historical progression and highlights advancements in gene editing methods and delivery vehicles. It discusses CRISPR's therapeutic applications for genetic diseases affecting multiple systems like the muscular, cardiovascular, and neurological systems with a focus on inherited blood disorders and eye diseases.
Xinpu Yang, Thuy Anh Bui, Haoqi Mei, Yagiz Alp Aksoy, Fei Deng, Gyorgy Hutvagner, Wei Deng   +6 more
wiley   +1 more source

Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort

Clinical Genetics, Volume 106, Issue 3, Page 258-266, September 2024.
The objective of this study is to clarify the genetic foundation of hereditary retinal diseases in a Turkish population by gathering data from 354 probands. Using the panel‐based NGS method, 103 genes were assessed, resulting in a diagnostic success rate of 58.1%.
Busra Ozguc Caliskan, Kubra Uslu, Neslihan Sinim Kahraman, Kuddusi Erkilic, Ayse Oner, Munis Dundar   +5 more
wiley   +1 more source

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

Clinical Genetics, Volume 106, Issue 2, Page 127-139, August 2024.
Autozygome‐guided whole exome sequencing (WES) in Saudi families with early‐onset inherited retinal disease revealed a diagnosis in 73%. Genotype‐driven clinical reclassifications showed a novel genotype–phenotype association for non‐syndromic RIMS2‐IRD.
Marta Del Pozo‐Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfride De Baere   +7 more
wiley   +1 more source

Clinical Pharmacology Perspective on Development of Adeno‐Associated Virus Vector‐Based Retina Gene Therapy

Clinical Pharmacology &Therapeutics, Volume 115, Issue 6, Page 1212-1232, June 2024.
Adeno‐associated virus (AAV) vector‐based gene therapy is an innovative modality being increasingly investigated to treat diseases by modifying or replacing defective genes or expressing therapeutic entities. With its unique anatomic and physiological characteristics, the eye constitutes a very attractive target for gene therapy.
Jennifer Lynn Ford, Eleni Karatza, Hardik Mody, Prathap Nagaraja Shastri, Sana Khajeh Pour, Tong‐Yuan Yang, Michael Swanson, Daniel Chao, Damayanthi Devineni   +8 more
wiley   +1 more source

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results

Orphanet Journal of Rare Diseases, 2020
Background Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagnosis compared to when using it ...
Ahra Cho, Jose Ronaldo Lima de Carvalho, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang   +7 more
doaj   +1 more source