May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Retinal Disease in Usher Syndrome III Caused by Mutations in the Clarin-1 Gene
Author Affiliations & Notes
  • W. Herrera
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
  • T. S. Aleman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
  • A. V. Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
  • A. J. Roman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
  • E. Banin
    Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • T. Ben-Yosef
    Department of Genetics and the Rappaport Family Institute for Research in the Medical Sciences, Technion-Israel Institute of Technology, Haifa, Israel
  • L. M. Gardner
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
  • A. Sumaroka
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
  • W. J. Kimberling
    Usher Syndrome Center, Boys Town National Research Hospital, Omaha, Nebraska
  • S. G. Jacobson
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
  • Footnotes
    Commercial Relationships  W. Herrera, None; T.S. Aleman, None; A.V. Cideciyan, None; A.J. Roman, None; E. Banin, None; T. Ben-Yosef, None; L.M. Gardner, None; A. Sumaroka, None; W.J. Kimberling, None; S.G. Jacobson, None.
  • Footnotes
    Support  FFB; NNRI; Hope for Vision; Macula Vision Research Foundation; Macular Disease Foundation; The Chatlos Foundation; RPB; Ruth and Milton Steinbach Fund; Alcon Research Institute
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2165. doi:https://doi.org/
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      W. Herrera, T. S. Aleman, A. V. Cideciyan, A. J. Roman, E. Banin, T. Ben-Yosef, L. M. Gardner, A. Sumaroka, W. J. Kimberling, S. G. Jacobson; Retinal Disease in Usher Syndrome III Caused by Mutations in the Clarin-1 Gene. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2165. doi: https://doi.org/.

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

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Abstract

Purpose: : To determine the retinal phenotype of Usher syndrome type III (USH3A) caused by clarin-1 (CLRN1) gene mutations in a non-Finnish population.

Methods: : USH3A patients (n=13, ages 24-69) representing 11 different families were studied. Patients had ocular examination, kinetic and static perimetry, near-infrared autofluorescence and optical coherence tomography.

Results: : Ten families had Ashkenazi Jewish origins and the N48K CLRN1 mutation. The other family had Dutch origins and a single allele D55fs (165delC) identified. Rod function was lost in the peripheral field in the first two decades of life but central rod function could be retained for another decade. Peripheral cone function was detectable into the third decade of life. Central cone function had a slower decline that extended for decades. Photoreceptor layer loss and features of retinal remodeling were present in retinal regions with severe visual dysfunction even at the youngest ages tested. Central retinal structure could be normal in younger patients but structural integrity was lost at increasing ages. Retinal pigment epithelium disease generally paralleled photoreceptor degeneration.

Conclusions: : CLRN1 mutations in this cohort manifest as a photoreceptor degenerative disease with early-onset peripheral rod dysfunction, greater persistence of central rod function and a central cone longevity of decades.

Keywords: retinal degenerations: hereditary • retina 
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