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Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

Authors
Journal
Case Reports in Ophthalmological Medicine
2090-6722
Publisher
Hindawi Publishing Corporation
Publication Date
Volume
2012
Identifiers
DOI: 10.1155/2012/380863
Keywords
  • Case Report
Disciplines
  • Medicine

Abstract

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a “schizophrenia-like” psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case of two natural siblings with congenital hypoacusis, retinitis pigmentosa, and psychiatric symptoms. Clinical features and genetic analysis were also reported. We analyzed possible causes to explain the high prevalence of psychiatric manifestations in Usher syndrome: genetic factors, brain damage, and “stress-related” hypothesis.

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