title: [Molecular genetic analysis and clinical phenotype of a pedigree with familial dominant drusen].
abstract: OBJECTIVE
  To analyze clinical features and mutations of EFEMP1 gene in a Chinese pedigree with familial dominant drusen.
  
  
  METHODS
  Clinical features of the pedigree were studied with fundus photography, fundus fluorescein angiography and optical coherence tomography. Molecular genetic analysis was performed on the patients and unaffected individuals from the family. All coding exons of the EFEMP1 gene were amplified by polymerase chain reaction (PCR) and sequenced. The results were compared with wild-type sequences from NCBI. The proband who had suffered from choroidal neovascularization and preretinal hemorrhage received an intravitreal injection of an anti-vascular endothelial growth factor (VEGF) preparation.
  
  
  RESULTS
  A heterozygous mutation C>T (R345W) was identified in exon 10 of the EFEMP1 gene in two affected individuals from the family. The same mutation was not detected in unaffected family members and 100 healthy individuals. Postoperative follow-up of the patient receiving intravitreal injection of anti-VEGF drug showed that visual acuity was improved and fundus appeared to be stable.
  
  
  CONCLUSIONS
  The R345W mutation in EFEMP1 is responsible for the dominant drusen in this family. Intravitreal injection of anti-VEGF drug is a promising treatment for the improvement in vision.
authors.affiliation: Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R.China. lufang@medmail.com.cn.
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Xuelu
authors.initials: X
authors.lastname: Xie
authors.forename: Zhibing
authors.initials: Z
authors.lastname: Zeng
authors.forename: Dan
authors.initials: D
authors.lastname: Meng
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D015593:Retinal Drusen / Q000235:genetics* / Q000378:metabolism; D042461:Vascular Endothelial Growth Factor A / Q000378:metabolism; D055815:Young Adult
chemical_list: C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins; D042461:Vascular Endothelial Growth Factor A