title: A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.
abstract: OBJECTIVE
  To describe a novel mutation in the RDS/Peripherin gene that results in a moderately severe form of adult-onset foveomacular dystrophy.
  
  
  METHODS
  Observational case series.
  
  
  METHODS
  Selected members of a family with adult-onset foveomacular dystrophy underwent complete ophthalmic evaluation, including fundus photography and fluorescein angiography, in a tertiary care referral center. The study population consisted of 12 members of a Caucasian kindred. After providing informed consent, patients donated blood for genomic DNA extraction and mutational screening using standard techniques. The main outcome measure were the presence of a RDS/Peripherin gene mutation in a patient with the disease and its absence in unaffected family members and controls.
  
  
  RESULTS
  Eight affected family members and no unaffected family members demonstrated a single guanine base deletion at nucleotide 112 that led to premature termination at amino acid 38 of RDS/Peripherin polypeptide. This frameshift mutation results in truncation of nearly 90% of the gene product, thus probably representing a null allele. That results in a relatively severe phenotype, with choroidal neovascularization developing in two patients and geographic atrophy involving the macula in three patients.
  
  
  CONCLUSIONS
  We describe a frameshift null mutation in the RDS/Peripherin gene associated with a relatively severe manifestation of adult-onset foveomacular dystrophy in affected family members.
authors.affiliation: Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Lin
authors.forename: Darius M
authors.initials: DM
authors.lastname: Moshfeghi
authors.forename: Sukanya
authors.initials: S
authors.lastname: Thirumalaichary
authors.forename: Xi
authors.initials: X
authors.lastname: Li
authors.forename: Li
authors.initials: L
authors.lastname: Jiang
authors.forename: Heidi
authors.initials: H
authors.lastname: Zhang
authors.forename: Sheng
authors.initials: S
authors.lastname: Zhang
authors.forename: Peter K
authors.initials: PK
authors.lastname: Kaiser
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000032:analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D004247:DNA