Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations

Ophthalmology. 2002 Jun;109(6):1110-7. doi: 10.1016/s0161-6420(02)01029-1.


Purpose: To describe the atypical clinical presentations of pattern dystrophy (PD) in two unrelated families with novel peripherin/RDS mutations.

Design: Observational case reports and family genetic study with review of peripherin/RDS mutations.

Participants: Affected and unaffected members of two families with PD.

Methods: The probands of two families, as well as other family members, underwent an ophthalmologic assessment including slit-lamp biomicroscopy, applanation tonometry, and a dilated fundus examination. Goldmann visual fields and fluorescein angiography were performed, wherever appropriate. Blood samples were obtained from affected and selected unaffected members of the families for DNA analysis.

Results: The proband of family 1 had an acute onset of decreased vision and a yellowish lesion in both maculae that appeared inflammatory. However, resolution of the acute lesion ultimately resulted in fundus changes more typical for PD. Moreover, the proband's sister showed more classic-appearing PD lesions. Screening of the peripherin/RDS gene for sequence variations showed a 2-bp deletion, resulting in a translational frameshift at codon 290 in affected members of the family. The proband's father, who showed this sequence variation, did not have a macular lesion. The proband of family 2 was asymptomatic and showed a fundus phenotype similar to fundus flavimaculatus. The patient had normal visual acuity and did not demonstrate a "dark choroid" on fluorescein angiography. Molecular screening showed a Gln331stop variation in the peripherin/RDS gene.

Conclusions: We describe two novel mutations in the peripherin/RDS gene in two unrelated families with PD. Clinicians should recognize the atypical features that may occur in patients with PD. A suspected diagnosis of PD may be confirmed by the identification of a mutation in the peripherin/RDS gene. In isolated family members with PD, a mutation in this gene may occur even in the absence of a clinically discernible macular lesion.

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Fluorescein Angiography
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins*
  • Middle Aged
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Peripherins
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology*
  • Visual Acuity
  • Visual Fields


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