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Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases

PURPOSE: We have observed that some preterm infants whose fundus appears very similar to eyes with familial exudative vitreoretinopathy (FEVR) present with atypical retinopathy of prematurity (ROP). To establish a definitive diagnosis and explore the possible genetic mechanism of atypical ROP, we pe...

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Autores principales: Li, Yian, Li, Jiakai, Zhang, Xiang, Peng, Jie, Li, Jing, Zhao, Peiquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455826/
https://www.ncbi.nlm.nih.gov/pubmed/32884843
http://dx.doi.org/10.1155/2020/4212158
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author Li, Yian
Li, Jiakai
Zhang, Xiang
Peng, Jie
Li, Jing
Zhao, Peiquan
author_facet Li, Yian
Li, Jiakai
Zhang, Xiang
Peng, Jie
Li, Jing
Zhao, Peiquan
author_sort Li, Yian
collection PubMed
description PURPOSE: We have observed that some preterm infants whose fundus appears very similar to eyes with familial exudative vitreoretinopathy (FEVR) present with atypical retinopathy of prematurity (ROP). To establish a definitive diagnosis and explore the possible genetic mechanism of atypical ROP, we performed gene sequencing of these cases using next-generation sequencing technology. METHODS: A retrospective review of infants who presented with atypical ROP from October 2013 to February 2017 was performed. The data included gender, gestational age at birth, birth weight, family history, systemic disorders, and age-appropriate ophthalmic examinations. Fundus fluorescein angiography (FFA) of the parents was also performed. Peripheral blood was collected from the patients and their parents to sequence genes. Gene mutations were analysed. RESULTS: Genetic testing revealed that 9 infants had FEVR-related disease-causing gene mutations. Nine gene mutations were detected; 5 had already been reported, and the other 4 were novel. In the 18 eyes of these 9 patients, 9 eyes exhibited severe ROP. 5 cases had a positive family history. CONCLUSIONS: Gene mutations of low-density-lipoprotein receptor-related protein 5(LRP5), frizzled-4(FZD4), Norrie disease protein (NDP), and tetraspanin-12(TSPAN12) may play a role in the pathogenesis of ROP and cause atypical ROP or preterm FEVR. The fundus lesions of ROP patients with disease-causing gene mutations were more serious. ROP cases should be carefully differentiated from preterm FEVR cases.
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spelling pubmed-74558262020-09-02 Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases Li, Yian Li, Jiakai Zhang, Xiang Peng, Jie Li, Jing Zhao, Peiquan J Ophthalmol Research Article PURPOSE: We have observed that some preterm infants whose fundus appears very similar to eyes with familial exudative vitreoretinopathy (FEVR) present with atypical retinopathy of prematurity (ROP). To establish a definitive diagnosis and explore the possible genetic mechanism of atypical ROP, we performed gene sequencing of these cases using next-generation sequencing technology. METHODS: A retrospective review of infants who presented with atypical ROP from October 2013 to February 2017 was performed. The data included gender, gestational age at birth, birth weight, family history, systemic disorders, and age-appropriate ophthalmic examinations. Fundus fluorescein angiography (FFA) of the parents was also performed. Peripheral blood was collected from the patients and their parents to sequence genes. Gene mutations were analysed. RESULTS: Genetic testing revealed that 9 infants had FEVR-related disease-causing gene mutations. Nine gene mutations were detected; 5 had already been reported, and the other 4 were novel. In the 18 eyes of these 9 patients, 9 eyes exhibited severe ROP. 5 cases had a positive family history. CONCLUSIONS: Gene mutations of low-density-lipoprotein receptor-related protein 5(LRP5), frizzled-4(FZD4), Norrie disease protein (NDP), and tetraspanin-12(TSPAN12) may play a role in the pathogenesis of ROP and cause atypical ROP or preterm FEVR. The fundus lesions of ROP patients with disease-causing gene mutations were more serious. ROP cases should be carefully differentiated from preterm FEVR cases. Hindawi 2020-08-20 /pmc/articles/PMC7455826/ /pubmed/32884843 http://dx.doi.org/10.1155/2020/4212158 Text en Copyright © 2020 Yian Li et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Li, Yian
Li, Jiakai
Zhang, Xiang
Peng, Jie
Li, Jing
Zhao, Peiquan
Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
title Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
title_full Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
title_fullStr Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
title_full_unstemmed Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
title_short Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
title_sort identification of gene mutations in atypical retinopathy of prematurity cases
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455826/
https://www.ncbi.nlm.nih.gov/pubmed/32884843
http://dx.doi.org/10.1155/2020/4212158
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