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Acute Psychosis with Paranoid Features in a Young Patient with Usher's Syndrome: A Case Report

Theodor Rais, M.D.
University of Toledo
Toledo, Ohio

Alina Rais, M.D.
University of Toledo
Toledo, Ohio


This report presents a case of Usher's Syndrome in a 19 year-old man, who developed psychotic episodes with paranoid features. The syndrome, believed to be transmitted by a single autosomal recessive gene is characterized by sensorineural hearing loss, vestibular hypofunction, retinitis pigmentosa, and associated with a high rate of mental retardation and psychosis. Some investigators contend that the mental disturbances are direct manifestation of chronic brain degeneration, while others attribute the pathological behavior to severe stress resulting from the progressive loss of vision. The case presented here and data from other reports are discussed in support of the latter interpretation.


Key words: Usher's Syndrome, Psychosis, hearing loss, blindness


Usher's Syndrome, an unusual hereditary disorder generally transmitted by a single autosomal recessive gene, is characterized by the combination of sensorineural hearing loss, vestibular deficiency and slowly progressive retinitis pigmentosa, and it is associated with a high rate of mental disturbances. This syndrome was first described in 1858 by Von Graefe but it was Usher who, in 1914 recognized its familial occurrence and suggested that it constituted a specific entity.
Surveys in several countries have revealed a prevalence of 1.8 - 3.5 per 100,000 (Eikmeier and Diefenbach, 1984) while slightly higher in European Nordic countries (Grondahl and Mjoen, 1986). In a group of deaf patients, Hallgren (1959) reported prevalence of 3-6% of Usher's Syndrome and almost 25% of these Usher's Syndrome patients exhibited symptoms of mental deficiency or psychosis. In a former study, performed in a center for blind patients, Hallgren (1958) reported that 29.5% of patients with Usher's Syndrome, above the age of 20, suffered from schizophrenic psychosis (Hallgren, 1958). However, Nuutila (1978) reported that only 4.5% of Usher's Syndrome patients were psychotic, and mental deficiency was not prominent. Similarly, Grondahl and Mjoen (1986) reported only one case of psychosis among 28 patients with Usher's Syndrome: a 62-year-old man, completely deaf and blind. The remaining 27 patients of their study did not exhibit and serious mental disturbances.
Although a number of studies of Usher's Syndrome report psychiatric disturbances, the nature of disturbance has not been well defined. Some investigators view the psychiatric symptoms as manifestations of chronic brain degeneration, citing their association with other neuropathological states such as epilepsy, multiple sclerosis, etc. Others attribute these symptoms to severe stress resulting from the progressive loss of vision.

Case Report

The patient, a 19-year-old male, was admitted in a psychotic state that had developed over the previous week. Mental status examination revealed a disoriented young man with severe anxiety and fearfulness, at times laughing inappropriately. He claimed he was at a trial and that the examiner was the Apostle Paul. His thinking was slow, with evidence of tangentiality and blocking. He expressed delusions with paranoid and religious content and reported first person auditory hallucinations. Reality testing was obviously disturbed and the patient had no insight of his condition. Based on his clinical picture, a diagnosis of psychotic disorder, NOS was made.
The history revealed that a diagnosis of Usher's Syndrome had been made at the age of 12 because of retinitis pigmentosa with narrowing of visual field, hemeralopia and partial hearing loss. At that time he could still read and write with special glasses and could watch a special TV set used for teaching purposes. The visual field angle was directed slightly to the left and the patient was unable to look down beyond his abdomen. For one year he attended a special program for the blind, and then started to learn bookbinding. He soon had to quit because of his handicap and subsequently stayed home for one year without any specific activity. He finally returned to the program for the blind where he completed two years of studies.
Over this time his vision worsened and he became prone to episodes of emotional liability during which he perceived the environment as hostile. His relationship with male educators became problematic. He received supportive psychotherapy, and his therapist recorded "difficult problems of self-esteem with feelings of inferiority resulting from his awareness of worsening impairment of vision and hearing and from his inability to accept his handicap." At 17, he was first referred for inpatient psychiatric treatment in an acute psychotic state with paranoid features. He received no antipsychotic medication and by records, was discharged in good remission after only two weeks. Eleven months later, he developed a state of emotional liability with diffuse fears. He was successfully treated with Xanax 0.5mg, twice daily for one month, and supportive psychotherapy. Prior to the present psychotic episode he tried to find a job and did not succeed. This failure made him very stressed and distraught. The patient had one brother who also suffered from Usher's Syndrome with severe auditory and visual impairment but no psychotic manifestations.

The physical and neurological examination was normal except for vision and hearing loss. Routine laboratory investigations as well as EEG and head CT scan were normal. Ophthalomological examination revealed tubular vision (less than 10%), retinitis pigmentosa and cataract of the posterior part of the lens bilaterally. ENT examination indicated serious hearing loss but no vestibular dysfunction. Endocrinological laboratory investigations, including thyroid functions tests and serum levels of prolactin, FSH, LH, testosterone and cortisol were all within normal range.

After initial worsening of agitation and psychotic symptoms, the patient responded well to treatment with Risperadone 3mg oral daily and the symptoms remitted in one week. A diagnosis of brief psychotic disorder was made based upon: presence of delusions and hallucinations lasting more than one day and less than one month; his symptoms were not accounted for by a mood disorder with psychotic features schizoaffective disorder or schizophrenia; all his past psychotic episodes were less than one month and there was no past history of affective symptoms; and the symptoms occurred after a stressor (specifier: with identified stressors). The Resperidone was tapered and discontinued in six months. The patient had a supportive family able to monitor him and observe early symptoms of relapse. On follow-up 1 year later, the remission proved stable without further neuroleptic treatment.


The patient presented is younger than cases described in other reports. Hallgren (1959) noted that the age of onset of the first psychotic episode in Usher's Syndrome patients was several years later than in schizophrenia and that it was correlated with the age at which the visual impairment commonly becomes quite severe. Also, Grondahl and Mjoen (1986) found that visual function was generally still satisfactory in Usher's patients up to age 30 years old and that only one out of five patients in this age group was classified as socially blind. In additions, cataracts were not found under the age of 30, but all patients older than 30 had a cataract in one or both eyes.
In our patient, the psychiatric symptoms did develop in parallel to the worsening of visual impairment. We concluded that this was reactive psychosis following stressful life events. Here, as well as in other case reports (Eikmeier and Diefenbach, 1984; Mangotich and Misiaszed, 1983), the short duration of the psychotic episodes, their positive and rapid response to antipsychotic medication, the remission and absence of symptoms at follow-up, all suggest a reactive nature of these psychotic states. Also, progressive loss of hearing or vision, unrelated to Usher's Syndrome has been reported to be associated with a significantly higher incidence of depression, suicidal behavior and paranoid psychosis (Altschuler, 1971; Cooper, 1979). Similarly, Hamer (1978) described cases of "minipsychosis" appearing, generally in adolescents, concomitantly with the narrowing of visual field and considered them to be reactive in nature.




1. Altschuler KZ (1971). Studies of the deaf: Relevance of psychiatric theory. Am J Psychiatry 127:92-102.
2. Cooper AF (1979). The psychological problems of the deaf and blind. Scot Med J 24: 105-107.
3. Eikmeier G, Diefenbach R (1984). Paranoid psychosis in congenital deafness and retinopatia pigmentosa: Usher's Syndrome - Case Report. Nervenartz 55: 269-170.
4. Grondahl J, Mjoen S (1986). Usher's Syndrome in four Norwegian counties. Clinical Genetics 30: 14-28.
5. Hallgren B (1958). Retinitis pigmentosa in combination with congenital deafness and vestibule-cerebellar ataxia, with psychiatric abnormality in some cases: A clinical and genetic study. Acta Genet 8: 97-104.
6. Hallgren B (1959). Retinitis pigmentosa combined with congenital deafness with vestibule-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study. Acta Psychiatr Neurol Scand (Suppl 138) 34: 5-101.
7. Hammer E (1978). Needs of adolescents who have Usher's Syndrome. Am Ann Deaf 123: 389-394.
8. Mangotich M, Misiaszed J (1983). Atypical psychosis in Usher's Syndrome. Psychosomatics 24: 674-675.
9. Nuutila A (1978). Dystrophia retinae pigmentosa - dysacusis syndrome (DRD): A study of the Usher's or Hallgren syndrome. J Tenet Hum 18: 57-88.

Theodor B.Rais M.D.
Assistant Professor, Program Director Child and Adolescent Psychiatry Training
Univesity of Toledo , University Health Science Campus , Kobacker Center ,3130 Glendale Avenue , Toledo ,OH 43614.
Alina R.Rais MD
Assistant Professor , Director Psycho-Geriatric Unit
University of Toledo , University Health Campus , 3000 Arlington Avenue , Toledo ,OH
Send correspondence to:
Theodor Rais, M.D.
3130 Glendale Ave.
Toledo, OH 43614
Phone: 419-383-5491
Fax: 419-383-3098.
Email: Theodor.Rais@utoledo.eduFirst Published September 2006

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