A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy

Am J Ophthalmol. 2003 Feb;135(2):213-8. doi: 10.1016/s0002-9394(02)01815-9.


Purpose: To describe a novel mutation in the RDS/Peripherin gene that results in a moderately severe form of adult-onset foveomacular dystrophy.

Design: 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Child
  • DNA / analysis
  • Eye Proteins / genetics*
  • Female
  • Fluorescein Angiography
  • Frameshift Mutation*
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins*
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Peripherins
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Sequence Deletion


  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins
  • DNA