[Clinical examinations in Usher's syndrome].
In this paper we are showing the results of clinical examinations in the family in which three siblings had the following symptoms: congenital deafness and nyctalopia. Clinical examinations including genetic counseling, audiometry, caloric test, Flash ERG, perimetry, computer tomography revealed total deafness, no vestibular function, and an advanced stage of retinitis pigmentosa. On the basis of clinical results, we determined the correct diagnosis: autosomal recessive Usher's syndrome-type 1. Diagnosis of the syndrome enables qualification of prognosis, complications, possibility of treatment and the risk of having the disease in the next generations. Early identification of the presence of Usher's syndrome can help in the formulation of an appropriate educational and training program. It seems purposeful that all patients with hearing loss should be examined by ophthalmologists.
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Pracowni Elektrofizjołogii II Kliniki Okulistycznej AM w Szczecinie.
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000328:Adult; D003638:Deafness / Q000151:congenital* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D008875:Middle Aged; D010353:Patient Education as Topic; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013577:Syndrome