May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Phenotype and Genotype of Danish and Swedish Patients With Fundus Albipunctatus/Retinitis Punctata Albescens
Author Affiliations & Notes
  • P. S. Schatz
    Ophthalmology, Lund University Hospital, Lund, Sweden
  • K. Klemp
    Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark
  • N. Christoffersen
    Gordon Norrie Centre for Genetic Eye Diseases, Natl Eye Clin Visually Impaired, Kennedy Center, Denmark
  • B. Sander
    Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark
  • N. Datta
    Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark
  • M. Preising
    University Eye Clinic, Universitätsklinikum Giessen und Marburg, Germany
  • M. Larsen
    Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark
  • T. Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, Natl Eye Clin Visually Impaired, Kennedy Center, Denmark
  • Footnotes
    Commercial Relationships  P.S. Schatz, None; K. Klemp, None; N. Christoffersen, None; B. Sander, None; N. Datta, None; M. Preising, None; M. Larsen, None; T. Rosenberg, None.
  • Footnotes
    Support  Skane County Council Research and Development Foundation
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 6096. doi:
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      P. S. Schatz, K. Klemp, N. Christoffersen, B. Sander, N. Datta, M. Preising, M. Larsen, T. Rosenberg; Phenotype and Genotype of Danish and Swedish Patients With Fundus Albipunctatus/Retinitis Punctata Albescens. Invest. Ophthalmol. Vis. Sci. 2008;49(13):6096.

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

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Abstract

Purpose: : To study the phenotype and genotype of Danish and Swedish patients with fundus albipunctatus/retinitis punctata albescens.

Methods: : Seven unrelated patients were examined with dark adaptometry, full-field ERG, mfERG, OCT. Diagnosis was confirmed using molecular genetic testing, including mutation screening of RDH5, RBP3 and RLBP1 genes. Further characterization of genotype - phenotype relations will include enhanced OCT, autofluorescence fundus photography and prolonged dark adaptometry.

Results: : Striking differences were observed between patients; Dark adaptation thresholds ranged between normal to severely elevated, without any rod adaptation. By full-field ERG, rod function ranged from moderate affection (50% reduction) to no recordable responses. Different degrees of reduction of central responses were seen by mfERG. The R209X mutation was found in RDH5.

Conclusions: : The fundus appearance of homogenously scattered white dots covering the paracentral and peripheral retina, probably results from different pathogenetic events and represents widely varying disorders as to type and extent of retinal dysfunction.

Keywords: retinal degenerations: hereditary • electroretinography: clinical • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) 
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