May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Genotype–Phenotype Correlations of R245X of PCDH15 Encoding Protocadherin–15
E.T. Tsilou; J. Schultz; M. Meltzer; R.C. Caruso; A. Griffith; A. Madeo; C. Brewer; C. Zalewski; G. Reed; T. Friedman
Author Affiliations & Notes
  • E.T. Tsilou
    National Eye Institute, National Institutes of Health, Bethesda, MD
    Ophthalmic Genetics and Visual Function Branch, Laboratory of Molecular Genetics,
  • J. Schultz
    Ophthalmic Genetics and Visual Function Branch, Laboratory of Molecular Genetics,
    National Institute on Deafness and other Communication Disorders, National Institutes of Health, Bethesda, MD
  • M. Meltzer
    National Eye Institute, National Institutes of Health, Bethesda, MD
    Ophthalmic Genetics and Visual Function Branch, Laboratory of Molecular Genetics,
  • R.C. Caruso
    National Eye Institute, National Institutes of Health, Bethesda, MD
    Ophthalmic Genetics and Visual Function Branch, Laboratory of Molecular Genetics,
  • A. Griffith
    Ophthalmic Genetics and Visual Function Branch, Laboratory of Molecular Genetics,
    National Institute on Deafness and other Communication Disorders, National Institutes of Health, Bethesda, MD
  • A. Madeo
    Ophthalmic Genetics and Visual Function Branch, Laboratory of Molecular Genetics,
    National Institute on Deafness and other Communication Disorders, National Institutes of Health, Bethesda, MD
  • C. Brewer
    Division of Biometry and Epidemiology, Neuro–Otology Branch,
    National Institute on Deafness and other Communication Disorders, National Institutes of Health, Bethesda, MD
  • C. Zalewski
    Division of Biometry and Epidemiology, Neuro–Otology Branch,
    National Institute on Deafness and other Communication Disorders, National Institutes of Health, Bethesda, MD
  • G. Reed
    National Eye Institute, National Institutes of Health, Bethesda, MD
    Division of Biometry and Epidemiology, Neuro–Otology Branch,
  • T. Friedman
    Ophthalmic Genetics and Visual Function Branch, Laboratory of Molecular Genetics,
    National Institute on Deafness and other Communication Disorders, National Institutes of Health, Bethesda, MD
  • Footnotes
    Commercial Relationships  E.T. Tsilou, None; J. Schultz, None; M. Meltzer, None; R.C. Caruso, None; A. Griffith, None; A. Madeo, None; C. Brewer, None; C. Zalewski, None; G. Reed, None; T. Friedman, None.
  • Footnotes
    Support  This research was supported by the Intramural Research Program of the NIH, NEI.
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5327. doi:
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      E.T. Tsilou, J. Schultz, M. Meltzer, R.C. Caruso, A. Griffith, A. Madeo, C. Brewer, C. Zalewski, G. Reed, T. Friedman; Genotype–Phenotype Correlations of R245X of PCDH15 Encoding Protocadherin–15 . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5327.

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Abstract

Purpose: : The Usher syndromes are a group of clinically variable and genetically heterogeneous autosomal recessive disorders that feature a combination of variable degrees of hearing impairment and retinitis pigmentosa. The purpose of this study was to define the clinical characteristics of Usher type 1F (USH1F) patients that carry the R245X mutation of PCDH15, R245X is the most common cause of Usher type 1 (USH1) in the Ashkenazi Jewish population.

Methods: : Three patients were found to be homozygous for R245X. All three patients underwent a complete ophthalmologic evaluation with Goldmann kinetic perimetry and electroretinography. Two of the patients also underwent complete audiologic and vestibular evaluation. In the third patient audiologic and vestibular testing was not performed because of bilateral cochlear implants.

Results: : Mean age of the patients at their last examination was 33 years (range 19–59 years). All three patients were Ashkenazi Jewish and fit the clinical criteria of USH1. Mean age of perceived night blindness was 11.5 years and mean age of retinitis pigmentosa diagnosis was 13 years. Visual acuity at their last examination ranged from 20/25 Snellen equivalent to no light perception. Visual acuity was severely compromised in the older patient and significantly decreased in the one of the younger patients. All three patients had posterior subcapsular cataract, very constricted visual fields and severely reduced to extinguished scotopic and photopic ERG responses.

Conclusions: : This subset of Usher type I patients appear to be severely affected from early in life. Further longitudinal studies are required to help define the natural history and rate of progression in these patients.

Keywords: clinical (human) or epidemiologic studies: natural history • genetics 
© 2006, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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