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Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia
Joint Authors
Fragiotta, Serena
Trabucco, Paolo
Vingolo, Enzo Maria
Domanico, Daniela
Nebbioso, Marcella
Source
Case Reports in Ophthalmological Medicine
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-10-04
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Domanico, Daniela& Fragiotta, Serena& Trabucco, Paolo& Nebbioso, Marcella& Vingolo, Enzo Maria. 2012. Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia. Case Reports in Ophthalmological Medicine،Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-467526
Modern Language Association (MLA)
Domanico, Daniela…[et al.]. Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia. Case Reports in Ophthalmological Medicine No. 2012 (2012), pp.1-6.
https://search.emarefa.net/detail/BIM-467526
American Medical Association (AMA)
Domanico, Daniela& Fragiotta, Serena& Trabucco, Paolo& Nebbioso, Marcella& Vingolo, Enzo Maria. Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia. Case Reports in Ophthalmological Medicine. 2012. Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-467526
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-467526