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- Title
Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.
- Authors
Li, Yian; Li, Jiakai; Zhang, Xiang; Peng, Jie; Li, Jing; Zhao, Peiquan
- Abstract
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.
- Subjects
ANGIOGRAPHY; GENETIC techniques; GENETIC mutation; RETROLENTAL fibroplasia; RETROSPECTIVE studies; SEQUENCE analysis
- Publication
Journal of Ophthalmology, 2020, p1
- ISSN
2090-004X
- Publication type
Article
- DOI
10.1155/2020/4212158