Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia
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 literatu...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2012/380863 |
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| author | Daniela Domanico Serena Fragiotta Paolo Trabucco Marcella Nebbioso Enzo Maria Vingolo |
| author_facet | Daniela Domanico Serena Fragiotta Paolo Trabucco Marcella Nebbioso Enzo Maria Vingolo |
| author_sort | Daniela Domanico |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6d3c7ac2e20242d5bc15881d978fdfba |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-6d3c7ac2e20242d5bc15881d978fdfba2025-08-20T03:33:51ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302012-01-01201210.1155/2012/380863380863Genetic Analysis for Two Italian Siblings with Usher Syndrome and SchizophreniaDaniela Domanico0Serena Fragiotta1Paolo Trabucco2Marcella Nebbioso3Enzo Maria Vingolo4Department of Ophthalmology, “S. M. Goretti” Hospital, Sapienza University of Rome, Via G. Reni, 04100 Latina, ItalyDepartment of Ophthalmology, “A. Fiorini” Hospital, Sapienza University of Rome, Polo Pontino, Via Firenze, 04019 Terracina, ItalyDepartment of Ophthalmology, “A. Fiorini” Hospital, Sapienza University of Rome, Polo Pontino, Via Firenze, 04019 Terracina, ItalyDepartment of Sense Organs, Centre of Ocular Electrophysiology, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, ItalyDepartment of Ophthalmology, “A. Fiorini” Hospital, Sapienza University of Rome, Polo Pontino, Via Firenze, 04019 Terracina, ItalyUsher 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.http://dx.doi.org/10.1155/2012/380863 |
| spellingShingle | Daniela Domanico Serena Fragiotta Paolo Trabucco Marcella Nebbioso Enzo Maria Vingolo Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia Case Reports in Ophthalmological Medicine |
| title | Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia |
| title_full | Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia |
| title_fullStr | Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia |
| title_full_unstemmed | Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia |
| title_short | Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia |
| title_sort | genetic analysis for two italian siblings with usher syndrome and schizophrenia |
| url | http://dx.doi.org/10.1155/2012/380863 |
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