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; Interesting

SUBMITTER: Tao T 

PROVIDER: S-EPMC8753894 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature