Phenotype-Genotype Correlation In Familial Exudative Vitreoretinopathy

Objective:To study looked back the disease-causing genes and clinical manifestation of familial exudative vitreoretinopathy(FEVR);to analyze the correlation of phenotype-genotype in FEVR.Subjects and Methods:130 patients and their families referred to our department with a diagnosis of FEVR were observed.Patients under 3 years old were adopted by Retcam III to take fundus photogragh and fundus fluorescein angiography(FFA),indirect ophthalmoscope to exam the retina.Patients over 3 years old were adopted by optos 200 TX to take fundus photogragh,slit lamp to exam the anterior,indirect ophthalmoscope to exam the posterior.And all of their parents took FFA.Subjects peripheral blood were collected to do the gene sequencing,including FZD4,NDP,LRP5,TSPAN12,ZNF408.Analysis of the relationship of phenotype and genotype was carry on.Results:130 patients included 89male(68.46%),41 female(31.54%).Among the 130 patients,124 patients(95.38%)were full term infants,6 patients(4.62%)were premature infants.20 patients(15.38%)were unilateral ocular changes,while 110 patients(84.62%)were bilateral.53 patients(40.77%)had family history,21 patients(16.15%)might have family history,53 patients(40.77%)had no family history,2 patients were adoption,1 patient’s parents refused to take FFA.64 patients(49.23%)had disease-causing genes of FEVR,while 66 patients(50.77%)hadn’t.Among the 260 eyes,20 eyes(7.69%)were stage 0,48 eyes(18.46%)were stage 1,18 eyes(6.92%)were stage 2,13 eyes(5.00%)were stage 3,88 eyes(33.85%)were stage 4,72 eyes(27.69%)were stage 5.The stages were compared between parents and offsprings,which had the same gene mutation,P<0.05.Comparison was made between gene positive parents’ retinopathies and gene negative parents’ retinopathies,including the numbers of retinal vessels crossing the peripapillary inner reference circle(PIRC)and peripapillary outer reference circle(PORC),the angle of hemal arch,P<0.05.The stages of different gene mutation compared,P<0.05.Conclusions: FEVR may be bilateral disease.40.77% of the patients had family history,and about half of all the patients found the disease-causing gene of FEVR.Stages related to gene mutations differ in statistics.The retinopathies of offsprings were more serious than parents,though they had the same gene mutation.There were some difference between gene positive parents’ retinopathies and gene negative parents’ retinopathies.Gene has no effect on gestational weeks,and there may be premature FEVR.