April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Phenotype of RDH12-related Early-Onset Retinal Dystrophy
Author Affiliations & Notes
  • Julie De Zaeytijd
    Dept of Ophthalmology,
    Ghent University Hospital, Ghent, Belgium
  • Frauke Coppieters
    Center for Medical Genetics,
    Ghent University Hospital, Ghent, Belgium
  • Linda Visser
    Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • Sophie Walraedt
    Dept of Ophthalmology,
    Ghent University Hospital, Ghent, Belgium
  • Rob W. Collin
    Human Genetics, Radboud Univ Nijmegen Med Ctr, Nijmegen, The Netherlands
  • Elfride De Baere
    Center for Medical Genetics,
    Ghent University Hospital, Ghent, Belgium
  • Christian P. Hamel
    U583, INSERM, Montpellier Cedex 05, France
    Ophthalmology, CHU Hôpital Gui de Chaulia, Montpellier, France
  • L I. van den Born
    Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • Bart P. Leroy
    Dept of Ophthalmology,
    Center for Medical Genetics,
    Ghent University Hospital, Ghent, Belgium
  • Footnotes
    Commercial Relationships  Julie De Zaeytijd, None; Frauke Coppieters, None; Linda Visser, None; Sophie Walraedt, None; Rob W. Collin, None; Elfride De Baere, None; Christian P. Hamel, None; L. I. van den Born, None; Bart P. Leroy, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2380. doi:
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      Julie De Zaeytijd, Frauke Coppieters, Linda Visser, Sophie Walraedt, Rob W. Collin, Elfride De Baere, Christian P. Hamel, L I. van den Born, Bart P. Leroy; Phenotype of RDH12-related Early-Onset Retinal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2380.

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

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Abstract

Purpose: : To describe the phenotype in Early-Onset Retinal Dystrophy (EORD) related to RDH12 mutations.

Methods: : Eleven affected individuals from six families with proven RDH12 mutations underwent a detailed ophthalmological examination including fundus photography using white, autofluorescent, near-infrared and red-free light and optical coherence tomography (OCT). In addition, psychophysical and electrophysiological testing (ISCEV-standard ERG) was performed.

Results: : All eleven affected individuals had a history of poor vision from the first few years of life. Fundoscopy showed marked atrophy and yellow discolouration of the macula. Spicular intraretinal pigmentation was present in the (mid)periphery of all fundi. In addition, a remarkable aspect of patchy preservation of functional retina in the retinal periphery was present until relatively late in the disease with additional significant sparing of the peripapillary area in all individuals. OCT confirmed the conservation of the peripapillary retinal structure. ERG revealed very reduced to absent responses under both scotopic and photopic conditions.

Conclusions: : The phenotype of RDH12-related EORD includes an early macular atrophy with yellow discolouration, and patchy preservation of peripheral and peripapillary retina as a specific pathognomonic feature.

Keywords: retinal degenerations: hereditary 
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