Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia. (4th October 2012)

• Record Type: Journal Article
• Authors: Domanico, Daniela; Fragiotta, Serena; Trabucco, Paolo; Nebbioso, Marcella; Vingolo, Enzo Maria
• Other Names: Cheng C.-Y. Academic Editor.; Hayashi T. Academic Editor.; Khandekar R. Academic Editor.
• Is Part Of: Case reports in ophthalmological medicine. Volume 2012(2012)
• Publication Date: 2012-10-04
• Subjects: Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; Ophthalmology; Eye Diseases; Eye -- Diseases; Ophthalmology; Electronic journals; Periodicals; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 617.7
• DOI: 10.1155/2012/380863
• Languages: English
• ISSNs: 2090-6722

Abstract

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.