Search Our Scientific Publications & Authors

Publications
find publications by category +
Translate page:

Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.

Authors:
Tianchang Tao Xianfen Meng Ningda Xu Jiarui Li Yong Cheng Yi Chen Lvzhen Huang

BMC Ophthalmol 2022 Jan 12;22(1):22. Epub 2022 Jan 12.

Department of Ophthalmology, Peking University People's Hospital, Eye Diseases and Optometry Institute, Beijing, China.

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.

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s12886-022-02252-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753894PMC
January 2022

Publication Analysis

Top Keywords

retinopathy prematurity
8
rop patients
8
fzd4 gene
8
retinal disease
8
patients
8
tspan12 ndp
8
rop
5
screening retinal
4
rate 111%
4
ocular phenotype
4
patients polymerase
4
polymerase chain
4
peripheral blood
4
chain reaction
4
detection rate
4
reaction direct
4
blood rop
4
dna isolated
4
isolated peripheral
4
111% 4/36conclusions
4

Keyword Occurance

Similar Publications

Self-reported executive function problems in adults born very low birthweight.

Authors:
Hyun Min Kim L John Horwood Sarah L Harris Samudragupta Bora Brian A Darlow Lianne J Woodward

Paediatr Perinat Epidemiol 2022 May 23. Epub 2022 May 23.

Canterbury Child Development Research Group, University of Canterbury, Christchurch, New Zealand.

Background: Executive function difficulties are common among children born very preterm and/or very low birthweight (<1500 g; VLBW), but little is known about whether they persist into adulthood.

Objectives: Examine the nature and pattern of self-reported executive functioning at 23 and 28 years of age using data from a national cohort study of adults born VLBW and a comparison group of same-age full-term (FT) born adults. Also examined were associations between executive function difficulties and socio-economic outcomes. Read More

View Article and Full-Text PDF
May 2022
Similar Publications

Efficacy evaluation of intravitreal ranibizumab therapy for three types of retinopathy of prematurity.

Authors:
Qiong Zou Yan-Qiong Zhu Feng-Jun Zhang Qiu-Ping Liu

Int J Ophthalmol 2022 18;15(5):753-759. Epub 2022 May 18.

Affiliated Eye Hospital of Nanchang University, Nanchang 330000, Jiangxi Province, China.

Aim: To evaluate efficacy of intravitreal ranibizumab (IVR) therapy for aggressive posterior retinopathy of prematurity (ROP), threshold ROP disease and type 1 pre-threshold ROP.

Methods: A retrospective analysis was performed on 40 patients (76 eyes) who had IVR as the primary treatment for ROP from April 2017 to January 2018. According to disease pathogenic features, the 76 eyes were divided into three groups: aggressive posterior ROP (AP-ROP) group (16 eyes), threshold ROP group (28 eyes) and type 1 pre-threshold ROP group (32 eyes). Read More

View Article and Full-Text PDF
May 2022
Similar Publications

[Ocular abnormalities of children born prematurely at the Yaoundé Gynaeco-Obstetrics And Pediatric Hospital].

Authors:
V Takou Tsapmene Y Bilong E Mah Mungyeh L Assumpta Bella

J Fr Ophtalmol 2022 May 18. Epub 2022 May 18.

Faculté de médecine et des sciences biomédicales, université de Yaoundé I, Yaoundé, Cameroun; Hôpital gynéco-obstétrique et pédiatrique de Yaoundé, Yaoundé, Cameroun.

Purpose: To identify ocular abnormalities in premature children in order to treat reversible visual disorders and help prevent low vision and blindness in this population at risk.

Methodology: This was a cross-sectional, analytical study carried out from November 1, 2018 to July 31, 2019 at the Yaoundé Gyneco-Obstetric And Pediatric Hospital, including premature children, aged 3 to 15 years. The variables studied were age, sex, prenatal, birth and past ophthalmological history, visual acuity, oculomotor examination and fundus examination. Read More

View Article and Full-Text PDF
May 2022
Similar Publications

In-hospital outcomes in preterm and small-for-gestational-age newborns: a cohort study.

Authors:
Lo-Ruama Pereira Costa Gleise Aparecida Moraes Costa Cristina Ortiz Sobrinho Valete José Kleber Kobol Machado Mariliza Henrique da Silva

Einstein (Sao Paulo) 2022 16;20:eAO6781. Epub 2022 May 16.

Centro Universitário FMABC, Santo André, SP, Brazil.

Objective: To compare in-hospital outcomes between small-for-gestational-age and appropriate-for-gestational-age preterm neonates who needed intensive care.

Methods: A retrospective cohort study with preterm newborns, from January to December 2017. The results are presented as median, frequency, and odds ratio. Read More

View Article and Full-Text PDF
May 2022
Similar Publications
}