Abstract
BackgroundRetinopathy 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.MethodsA 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.ResultsAll 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).ConclusionsThis 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.
Highlights
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
Retinopathy of prematurity (ROP) is a complex ocular disease, characterized by abnormal retinal vascularization in premature infants; This disease is firstly described as retrolental fibroplasia in 1940s when a grayish white, opaque membrane behind the lens was observed in preterm infants [1]
The stage of ROP was assessed for each patient following the International Classification of Retinopathy of Prematurity [17]: Stage 0 presents only immature retinal vasculature; Stage 1 presents a demarcation line between vascularized and avascular retina; Stage 2 presents a ridge characterized by the demarcation line with height, width, and volume; Stage 3 presents the extraretinal fibrovascular proliferation or neovascularization extending from the ridge into the vitreous; Stage 4 is divided into extrafoveal (4A) or foveal (4B) partial retinal detachment; Stage 5 presents the total retinal detachment
Summary
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. The exact mechanism of ROP remains unclear, many risk factors have been reported to induce ROP [6,7,8,9], such as low birth weight, young gestational age, supplemental oxygen, mechanical ventilation, apnea, anemia, and blood transfusion. In addition to those environmental factors, genetic mutations are considered to get involved in ROP development, especially Wnt signaling factors: Frizzled-4 (FZD4), Tetraspanin-12 (TSPAN12), and Norrin (NDP), this signaling system. Our study investigated 36 patients diagnosed with ROP, we obtained comprehensive histories of their illnesses, and evaluated the effect of pathogenic genes variants on their ocular features
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