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Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review

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...

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Autores principales: Griffith, Joseph, Sioufi, Kareem, Wilbanks, Laurie, Magrath, George N., Say, Emil A. T., Lyons, Michael J., Wilkes, Meg, Pai, Gurpur Shashidhar, Peterseim, Mae Millicent Winfrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407983/
https://www.ncbi.nlm.nih.gov/pubmed/36011402
http://dx.doi.org/10.3390/genes13081490
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author Griffith, Joseph
Sioufi, Kareem
Wilbanks, Laurie
Magrath, George N.
Say, Emil A. T.
Lyons, Michael J.
Wilkes, Meg
Pai, Gurpur Shashidhar
Peterseim, Mae Millicent Winfrey
author_facet Griffith, Joseph
Sioufi, Kareem
Wilbanks, Laurie
Magrath, George N.
Say, Emil A. T.
Lyons, Michael J.
Wilkes, Meg
Pai, Gurpur Shashidhar
Peterseim, Mae Millicent Winfrey
author_sort Griffith, Joseph
collection PubMed
description 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. The known ethnic groups included White (64%), African American or Black (30%), Hispanic (3%), and Asian (2%). The most prevalent dystrophies identified clinically were non-syndromic retinitis pigmentosa (29.8%), Stargardt disease (8.3%), Usher syndrome (8.3%), cone-rod dystrophy (8.0%), cone dystrophy (4.9%), and Leber congenital amaurosis (4.3%). Of the 101 patients (31.1%) with genetic testing, 54 (53.5%) had causative genetic variants identified. The most common pathogenic genetic variants were USH2A (n = 11), ABCA4 (n = 8), CLN3 (n = 7), and CEP290 (n = 3). Our study provides initial information characterizing IRDs within the diverse population of the southeastern US, which differs from national and international genetic and diagnostic trends with a relatively high proportion of retinitis pigmentosa in our African American or Black population and a relatively high frequency of USH2A pathogenic variants.
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spelling pubmed-94079832022-08-26 Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review Griffith, Joseph Sioufi, Kareem Wilbanks, Laurie Magrath, George N. Say, Emil A. T. Lyons, Michael J. Wilkes, Meg Pai, Gurpur Shashidhar Peterseim, Mae Millicent Winfrey Genes (Basel) Article 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. The known ethnic groups included White (64%), African American or Black (30%), Hispanic (3%), and Asian (2%). The most prevalent dystrophies identified clinically were non-syndromic retinitis pigmentosa (29.8%), Stargardt disease (8.3%), Usher syndrome (8.3%), cone-rod dystrophy (8.0%), cone dystrophy (4.9%), and Leber congenital amaurosis (4.3%). Of the 101 patients (31.1%) with genetic testing, 54 (53.5%) had causative genetic variants identified. The most common pathogenic genetic variants were USH2A (n = 11), ABCA4 (n = 8), CLN3 (n = 7), and CEP290 (n = 3). Our study provides initial information characterizing IRDs within the diverse population of the southeastern US, which differs from national and international genetic and diagnostic trends with a relatively high proportion of retinitis pigmentosa in our African American or Black population and a relatively high frequency of USH2A pathogenic variants. MDPI 2022-08-20 /pmc/articles/PMC9407983/ /pubmed/36011402 http://dx.doi.org/10.3390/genes13081490 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Griffith, Joseph
Sioufi, Kareem
Wilbanks, Laurie
Magrath, George N.
Say, Emil A. T.
Lyons, Michael J.
Wilkes, Meg
Pai, Gurpur Shashidhar
Peterseim, Mae Millicent Winfrey
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
title Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
title_full Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
title_fullStr Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
title_full_unstemmed Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
title_short Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
title_sort inherited retinal dystrophy in southeastern united states: characterization of south carolina patients and comparative literature review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407983/
https://www.ncbi.nlm.nih.gov/pubmed/36011402
http://dx.doi.org/10.3390/genes13081490
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