May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Three Novel Peripherin/RDS Mutations Associated With Pattern Dystrophy
Author Affiliations & Notes
  • A. Reginald
    Radcliffe Infirmary, Oxford Eye Hospital, Oxford, United Kingdom
  • J. Ah-Chan
    Radcliffe Infirmary, Oxford Eye Hospital, Oxford, United Kingdom
  • J. Allard
    Radcliffe Infirmary, Oxford Eye Hospital, Oxford, United Kingdom
  • G. Black
    Radcliffe Infirmary, Oxford Eye Hospital, Oxford, United Kingdom
  • S. M. Downes
    Radcliffe Infirmary, Oxford Eye Hospital, Oxford, United Kingdom
  • Footnotes
    Commercial Relationships A. Reginald, None; J. Ah-Chan, None; J. Allard, None; G. Black, None; S.M. Downes, None.
  • Footnotes
    Support None.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 3777. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      A. Reginald, J. Ah-Chan, J. Allard, G. Black, S. M. Downes; Three Novel Peripherin/RDS Mutations Associated With Pattern Dystrophy. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3777. doi: https://doi.org/.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose:: Phenotype genotype correlation in three novel peripherin/RDS mutations

Methods:: Phenotypic characterisation including symptoms, fundus findings, autofluorescence and optical coherence tomography imaging and electrophysiology of three unrelated probands was carried out. Mutational screening for the peripherin/RDS gene was performed using standard protocols.

Results:: One patient (I ) a mutation was identified in a highly conserved region of coding DNA resulting in a six amino acid sequence change (pGly202-Asp207del6). This was associated with a pattern dystrophy phenotype. In the other two patients mutations resulted in two different frameshift mutations leading to a premature termination codon. In patient II (c259-266del8) a much severer phenotype was noted characterised by pseudofundus flavimaculatus with severe abnormalities of the rod amplitudes and implicit times on electrophysiology testing with no electro-oculogram light rise. An insertion (c.707dupA) in exon 2 was identified in patient (III) and was associated with a pseudofundus flavimaculatus phenotype, with mild rod abnormalities affecting amplitudes and implicit times, and a subnormal EOG light rise.

Conclusions:: This case series presents three novel mutations of the peripherin/RDS gene associated with pattern dystrophy/pseudofundus flavimaculatus, and in one case quite severe rod involvement. There is a wide variation in phenotypic expressivity associated with the peripherin RDS gene, which seems to depend on the type of mutation its location in the protein structure. Identification of a familial mutation allows for the possibility of predictive genetic testing for adult members of the family in which the mutation is identified.

Keywords: retinal degenerations: hereditary • gene screening • inner retina dysfunction: hereditary 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×