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Updated: Jan 1, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
[Cat-eye syndrome (a psychiatric aspect)]
I A Makarov1, S B Gavrilina1, B G Belozerov1
1Central Clinic Psychiatry Hospital of Moscow Region, Moscow, Russia.
Abstract:
Cat-eye syndrome is associated with abnormalities in chromosome 22. Based on the literature on genetic and clinical characteristics of the disease, three clinical cases observed by the authors at different times are analyzed. Mental retardation of different degree was observed in all cases and schizotypal personality disorder in one case. The latter case is described in detail. The patient's stress due to the mockery of peers and teenagers regarding the characteristics of the patient's features plays a considerable role in the exacerbation of mental illness. Early cosmetic surgical intervention (iris's coloboma removal) is necessary to prevent exacerbations of a mental illness and comfortable existence of the patient in the social environment.
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