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Case Reports in Ophthalmological Medicine
Volume 2012, Article ID 380863, 6 pages
http://dx.doi.org/10.1155/2012/380863
Case Report

Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

1Department of Ophthalmology, “S. M. Goretti” Hospital, Sapienza University of Rome, Via G. Reni, 04100 Latina, Italy
2Department of Ophthalmology, “A. Fiorini” Hospital, Sapienza University of Rome, Polo Pontino, Via Firenze, 04019 Terracina, Italy
3Department of Sense Organs, Centre of Ocular Electrophysiology, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy

Received 6 July 2012; Accepted 13 August 2012

Academic Editors: C.-Y. Cheng, T. Hayashi, and R. Khandekar

Copyright © 2012 Daniela Domanico et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. C. I. Hope, S. Bundey, D. Proops et al., “Usher syndrome in the city of Birmingham—prevalence and clinical classification,” British Journal of Ophthalmology, vol. 81, no. 1, pp. 46–53, 1997. View at Google Scholar · View at Scopus
  2. B. J. B. Keats and S. Savas, “Genetic heterogeneity in Usher syndrome,” American Journal of Medical Genetics, vol. 130, no. 1, pp. 13–16, 2004. View at Google Scholar · View at Scopus
  3. E. T. Tsilou, B. I. Rubin, R. C. Caruso et al., “Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?” Acta Ophthalmologica Scandinavica, vol. 80, no. 2, pp. 196–201, 2002. View at Publisher · View at Google Scholar · View at Scopus
  4. D. Vozzi, A. Aaspõllu, E. Athanasakis et al., “Molecular epidemiology of Usher syndrome in Italy,” Molecular Vision, vol. 17, pp. 1662–1668, 2011. View at Google Scholar · View at Scopus
  5. H. J. Bolz and A.-F. Roux, “Clinical utility gene card for: Usher syndrome,” European Journal of Human Genetics, vol. 19, no. 8, p. 932, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. B. Hallgren, “Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study,” Acta Psychiatrica Scandinavica, Supplementum, vol. 34, no. 138, pp. 1–101, 1959. View at Google Scholar · View at Scopus
  7. A. Nuutila, “Dystrophia retinae pigmentosa—dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome,” Journal de Genetique Humaine, vol. 18, no. 1, pp. 57–88, 1970. View at Google Scholar · View at Scopus
  8. J. Dammeyer, “Children with Usher syndrome: mental and behavioral disorders,” Behavioral and Brain Functions, vol. 8, article 16, 2012. View at Publisher · View at Google Scholar · View at Scopus
  9. C. McDonald, P. Kenna, and T. Larkin, “Retinitis pigmentosa and schizophrenia,” European Psychiatry, vol. 13, no. 8, pp. 423–426, 1998. View at Publisher · View at Google Scholar · View at Scopus
  10. C. Y. Wu and C. C. Chiu, “Usher syndrome with psychotic symptoms: two cases in the same family,” Psychiatry and Clinical Neurosciences, vol. 60, no. 5, pp. 626–628, 2006. View at Publisher · View at Google Scholar · View at Scopus
  11. J. Koizumi, K. Ofuku, K. Sakuma, H. Shiraishi, M. Iio, and S. Nawano, “CNS changes in Usher's syndrome with mental disorder: CT, MRI and PET findings,” Journal of Neurology Neurosurgery and Psychiatry, vol. 51, no. 7, pp. 987–990, 1988. View at Google Scholar · View at Scopus
  12. T. D. Bloom, G. A. Fishman, and M. F. Mafee, “Usher's syndrome. CNS defects determined by computed tomography,” Retina, vol. 3, no. 2, pp. 108–113, 1983. View at Google Scholar · View at Scopus
  13. G. B. Schaefer, J. B. Bodensteiner, J. N. Thompson Jr., W. J. Kimberling, and J. M. Craft, “Volumetric neuroimaging in Usher syndrome: evidence of global involvement,” American Journal of Medical Genetics, vol. 79, no. 1, pp. 1–4, 1998. View at Publisher · View at Google Scholar · View at Scopus
  14. H. D. Demir, F. E. Deniz, and H. YardIm, “A rare brain developmental anomaly in a patient with Usher's syndrome,” International Ophthalmology, vol. 30, no. 1, pp. 85–88, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. T. Waldeck, B. Wyszynski, and A. Medalia, “The relationship between Usher's syndrome and psychosis with capgras syndrome,” Psychiatry, vol. 64, no. 3, pp. 248–255, 2001. View at Publisher · View at Google Scholar · View at Scopus
  16. E. Ziskind, “Isolation stress in medical and mental illness,” Journal of the American Medical Association, vol. 168, no. 11, pp. 1427–1431, 1958. View at Google Scholar · View at Scopus
  17. J. Hess-Röver, J. Crichton, K. Byrne, and A. J. Holland, “Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome,” Journal of Intellectual Disability Research, vol. 43, no. 5, pp. 428–434, 1999. View at Publisher · View at Google Scholar · View at Scopus