Bulgarian Journal of Psychiatry, 2023; 8(3):33-37


Elena Ivanova

Department of Psychiatry and Medical Psychology, Medical University – Sofia

Abstract. A clinical case of a patient aged 34 years with paranoid schizophrenia (F20.0 according to ICD) in comorbidity with deuteranopia is presented. The onset of schizophrenia was at the age of 24 years with hallucinatory-paranoid symptomatology, and the illness acquired a relapsing-remitting clinical course. There was no evidence of family history of mental disorder and deuteranopia. The patient has an older brother who is clinically healthy. Schizophrenia is a multifactorial and polygenic disorder, and the research interest is mainly focused on understanding genetic diathesis – the complex network of multiple interacting genes located on different chromosomes, and the genetic polymorphisms. In the present case it can be assumed that 22q, 11q(23.2) and the X chromosome are involved in the development of schizophrenia, which is confirmed by the results of genomic studies. The Xq28 region influences individual central nervous system processes and functions, but is characterized by high genomic instability. In this patient, a de novo mutation in Xq28 can be assumed.

Key words: schizophrenia, deuteranopia, de novo mutation, X chromosome, locus Xq28

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