Genes, Vol. 13, Pages 1490: Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
Winfrey Peterseim
Inherited retinal dystrophies (IRDs) are a group of rare diseases involving more than 340 genes and a variety of clinical phenotypes that lead to significant visual impairment. The aim of this study is to evaluate the rates and genetic characteristics of IRDs in the southeastern region of the United States (US). A retrospective chart review was performed on 325 patients with a clinical diagnosis of retinal dystrophy. Data including presenting symptoms, visual acuity, retinal exam findings, imaging findings, and genetic test results were compiled and compared to national and international IRD cohorts. ...
Source: Genes - August 20, 2022 Category: Genetics & Stem Cells Authors: Joseph Griffith III Kareem Sioufi Laurie Wilbanks George N. Magrath Emil A. T. Say Michael J. Lyons Meg Wilkes Gurpur Shashidhar Pai Mae Millicent Winfrey Peterseim Tags: Article Source Type: research
Genes, Vol. 13, Pages 1423: Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes
Conclusions: Patients with Usher syndrome, whatever the associated gene in this cohort, tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP. Analysis of genetic variants in USH2A, the commonest gene in our cohort, showed that patients with a more severe genotype were more likely to be diagnosed with USH compared to NS-ARRP. USH2A patients with syndromic features have an earlier onset of symptoms and more severe features on FAF and OCT imaging. However, a third of patients diagnosed with NS-ARRP developed later onset hearing loss. Eighteen novel varia...
Source: Genes - August 10, 2022 Category: Genetics & Stem Cells Authors: Helena M. Feenstra Saoud Al-Khuzaei Mital Shah Suzanne Broadgate Morag Shanks Archith Kamath Jing Yu Jasleen K. Jolly Robert E. MacLaren Penny Clouston Stephanie Halford Susan M. Downes Tags: Article Source Type: research
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
Usher syndrome (USH) is a leading disorder of deaf –blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing ... (Source: BMC Ophthalmology)
Source: BMC Ophthalmology - July 23, 2022 Category: Opthalmology Authors: Dongjun Xing, Rongguo Yu, Linni Wang, Liying Hu, Yang Yang, Chang Li, Zhiqing Li and Xiaorong Li Tags: Research Source Type: research
Phenotypic characterization of retinitis pigmentosa associated with deafness
Conclusions: Family studies are essential in cases where the symptoms do not match the typical Usher’ syndrome. In the cases of retinitis pigmentosa associated with deafness, a correct clinical diagnosis allows for focusing on the molecular analyses to establish a differential diagnosis. The need for nomenclature guidelines on these atypical findings is relevant to aid physicians and researchers in the best approach to these cases.PMID:35866736 | DOI:10.7705/biomedica.6129 (Source: Biomedica : Revista del Instituto Nacional de Salud)
Source: Biomedica : Revista del Instituto Nacional de Salud - July 22, 2022 Category: International Medicine & Public Health Authors: Ángela Camila Paredes Greizy L ópez Nancy Gelvez Marta Luc ía Tamayo Source Type: research
