Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Ophthalmological Medicine
Volume 2012, Article ID 380863, 6 pages
Case Report

Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

1Department of Ophthalmology, “S. M. Goretti” Hospital, Sapienza University of Rome, Via G. Reni, 04100 Latina, Italy
2Department of Ophthalmology, “A. Fiorini” Hospital, Sapienza University of Rome, Polo Pontino, Via Firenze, 04019 Terracina, Italy
3Department of Sense Organs, Centre of Ocular Electrophysiology, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy

Received 6 July 2012; Accepted 13 August 2012

Academic Editors: C.-Y. Cheng, T. Hayashi, and R. Khandekar

Copyright © 2012 Daniela Domanico et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.