Ocular phenotype and genetical analysis in patients with retinopathy of prematurity

Abstract

Background Retinopathy of prematurity (ROP) is a multifactorial retinal disease, involving both environmental and genetic factors; The purpose of this study is to evaluate the clinical presentations and genetic variants in Chinese patients with ROP. Methods A total of 36 patients diagnosed with ROP were enrolled in this study, their medical and ophthalmic histories were obtained, and comprehensive clinical examinations were performed. Genomic DNA was isolated from peripheral blood of ROP patients, polymerase chain reaction and direct sequencing of the associated pathogenic genes (FZD4, TSPAN12, and NDP) were performed. Results All patients exhibited the clinical manifestations of ROP. No mutations were detected in the TSPAN12 and NDP genes in all patients; Interestingly, three novel missense mutations were identified in the FZD4 gene (p.A2P, p.L79M, and p.Y378C) in four patients, for a detection rate of 11.1% (4/36). Conclusions This study expands the genotypic spectrum of FZD4 gene in ROP patients, and our findings underscore the importance of obtaining molecular analyses and comprehensive health screening for this retinal disease.

SELENOP rs3877899 Variant Affects the Risk of Developing Advanced Stages of Retinopathy of Prematurity (ROP)

“…The role of Se and genetic variation in enzymes involved in maintaining optimal function of the antioxidant system [6] and susceptibility to complications induced by oxidative stress [17][18][19] in premature infants was previously demonstrated, but the impact of selenoproteins has yet to be investigated. Therefore, this study focused on the role of genetic variants for selenoproteins that act as antioxidants in plasma (SeP) and in the intracellular space, including the endoplasmic reticulum (SelS), cytoplasm (GPX4), and mitochondria (GPX4).…”

Trends in Neonatal Ophthalmic Screening Methods

“…They concluded that ROP stage correlated with flow velocities and proposed blood flow measurement by PWUS as a quantitative, clinically relevant, and easily tolerated means of detecting and assessing the ROP risk in preterm neonates [23]. Also, there are tendencies to identify a possible genetic background of predisposition to ROP [24].…”

Genetic testing of ocular manifestations of proliferative syndrome to provide pathophysiology-oriented treatment

“…Также мы видим, что ретинопатия недоношенных имеет более тяжелое течение при наличии одной из четырех наиболее патогенных мутаций (+13553C>T, -634G>C, +405G>C (rs2010963), -460C>T (rs833061)) в гене VEGFA [14][15][16]. заключение Данное исследование продолжается, в дальнейшем планируется расширить спектр обнаруживаемых нозологий.…”