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Ocular phenotype and genetical analysis in patients with retinopathy of prematurity
Tianchang Tao1,2,3, Xianfen Meng4, Ningda Xu1,2,3
1Department of Ophthalmology, Peking University People's Hospital, Eye Diseases and Optometry Institute, Beijing, China.
Insights
Genetic analysis of retinopathy of prematurity (ROP) in Chinese patients revealed novel FZD4 gene mutations. This highlights the importance of molecular testing and screening for ROP diagnosis and management.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Retinopathy of prematurity (ROP) is a complex retinal disease influenced by environmental and genetic factors.
- Understanding the genetic basis of ROP is crucial for diagnosis and treatment.
Purpose of the Study:
- To investigate the clinical presentations and genetic variations in Chinese patients diagnosed with ROP.
- To identify specific genetic mutations associated with ROP in this population.
Main Methods:
- Conducted a study involving 36 ROP patients, collecting medical and ophthalmic histories.
- Performed comprehensive clinical examinations and isolated genomic DNA for genetic analysis.
- Utilized polymerase chain reaction and direct sequencing to examine FZD4, TSPAN12, and NDP genes.
Main Results:
- All 36 patients presented with clinical signs of ROP.
- No mutations were found in the TSPAN12 and NDP genes.
- Identified three novel missense mutations in the FZD4 gene (p.A2P, p.L79M, p.Y378C) in four patients (11.1% detection rate).
Conclusions:
- The study expands the known genotypic spectrum of the FZD4 gene in ROP.
- Findings emphasize the significance of molecular analyses for ROP patients.
- Recommends comprehensive health screening and genetic testing for early detection and management of ROP.
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.
