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Published on: April 2, 2021
[Genetic susceptibility to retinopathy of prematurity]
1Xinhua College of Clinical Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
Insights
Retinopathy of prematurity (ROP) is a leading cause of childhood blindness. Emerging evidence suggests genetic factors, including ethnicity and gene variations, play a significant role in ROP development and may guide future treatments.
Area of Science:
- Ophthalmology
- Neonatology
- Genetics
Context:
- Retinopathy of prematurity (ROP) is a significant cause of pediatric blindness globally.
- Despite advances, the exact causes and mechanisms of ROP remain incompletely understood.
- Premature birth, low birth weight, and short gestational age are established risk factors.
Purpose:
- To review the current understanding of retinopathy of prematurity (ROP).
- To explore the role of genetic factors in ROP development.
- To discuss the implications of genetic susceptibility for future ROP management.
Summary:
- ROP is a serious eye condition affecting premature infants, leading to potential blindness.
- While prematurity is a primary risk, genetic factors like sex, ethnicity, gene polymorphisms, and mutations are increasingly recognized.
- These genetic predispositions influence individual susceptibility to ROP.
Impact:
- Understanding ROP's genetic basis can refine screening protocols for high-risk infants.
- Genetic insights may pave the way for targeted therapies for advanced ROP.
- This knowledge is crucial for reducing the global burden of childhood blindness caused by ROP.
Abstract:
Retinopathy of prematurity (ROP) is a proliferative disease that affects prematurely born babies. Despite the progress in management and treatment obtained previously, ROP remains a major cause of childhood blindness in both developed and developing countries. The etiology and pathogenesis of ROP is still unclear despite the fact that some progresses have been obtained. Some factors, such as low birth-weight and short gestational age have been consistently shown to be associated with ROP. Recently, numerous studies indicated that ROP shows genetic susceptibility, which includes sex, ethnicity, gene polymorphisms and gene mutations. Genetic susceptibility will play an important role in the screening and treatment of advanced ROP in the future.
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