ArticleCase reports in ophthalmological medicine2012
Genetic analysis for two italian siblings with usher syndrome and schizophrenia.
Article in Case reports in ophthalmological medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.International journal of molecular sciences · 2021Trial
- Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.Audiology research · 2023Article
- COVID-19 Vaccines in Inherited Retinal Degenerations (IRD), Fears, Ideas and Real Interactions.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Diagnostic and Therapeutic Challenges due to Psychosis and Catatonia in Non-syndromic Retinitis Pigmentosa: A Case Report.Indian journal of psychological medicine · 2021Article
- Blindness, Psychosis, and the Visual Construction of the World.Schizophrenia bulletin · 2020Article
- Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.Scientific reports · 2018Article
- A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.European journal of human genetics : EJHG · 2015Article
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- Possible functional links among brain- and skull-related genes selected in modern humans.Frontiers in psychology · 2015Article
- Psychosis, Mood and Behavioral Disorders in Usher Syndrome: Review of the Literature.Medical hypothesis, discovery & innovation ophthalmology journal · 2015Review
- De novo CNVs in bipolar affective disorder and schizophrenia.Human molecular genetics · 2014Article
- Quantitative trait loci mapping and gene network analysis implicate protocadherin-15 as a determinant of brain serotonin transporter expression.Genes, brain, and behavior · 2014Article
- Schizophrenia and cortical blindness: protective effects and implications for language.Frontiers in human neuroscience · 2014Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.