title: Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.
abstract: OBJECTIVE
  To characterize the clinical features and molecular genetic findings in a Chinese pedigree with Malattia leventinese/Doyne honeycomb retinal dystrophy.
  
  
  METHODS
  All patients underwent ophthalmologic examinations, including Snellen best-corrected visual acuity, fundus photography, fundus autofluorescence imaging, fundus fluorescein angiography, and optical coherence tomography. Genomic DNA was isolated from blood samples. All exons of EFEMP1 were amplified by polymerase chain reaction and sequenced. Possible structural and functional impacts of the protein because of amino acid substitution were predicted by bioinformatics analysis.
  
  
  RESULTS
  A heterozygous missense mutation comprising C > T in exon 10 of EFEMP1 was identified in all patients of the pedigree; this resulted in an amino acid substitution at position 345 (Arg345Trp, R345W). Clinically, six patients from the Chinese family were ascertained with varying degrees of early onset drusen. Besides the drusen, choroidal neovascularization and retinal pigment epithelium changes were noted in some patients. Increased autofluorescence corresponding to the drusen was detected in the R345W mutation patients. Intrafamilial patients with Malattia leventinese/Doyne honeycomb retinal dystrophy seem to be phenotypically variable in visual loss, ophthalmoscopic findings, autofluorescence imaging, and optical coherence tomography changes. The amino acid change may have an effect on protein structure and function through bioinformatics analysis.
  
  
  CONCLUSIONS
  The R345W mutation in EFEMP1 caused Malattia leventinese/Doyne honeycomb retinal dystrophy in a Chinese family. This is the first report, as per our knowledge, of the R345W mutation in EFEMP1 in a Chinese pedigree of this disease.
authors.affiliation: *Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China; †Molecular Medicine Research Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China; ‡Department of Ophthalmology, University of California San Diego, La Jolla, California; and §Institute for Genomic Medicine, University of California San Diego, La Jolla, California.
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Xuelu
authors.initials: X
authors.lastname: Xie
authors.forename: Guiqun
authors.initials: G
authors.lastname: Cao
authors.forename: Haiou
authors.initials: H
authors.lastname: Jiang
authors.forename: Sisi
authors.initials: S
authors.lastname: Wu
authors.forename: Zhiguang
authors.initials: Z
authors.lastname: Su
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D019295:Computational Biology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D015594:Optic Disk Drusen / Q000151:congenital; D010375:Pedigree; D016133:Polymerase Chain Reaction; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins