There can be several etiologies behind deafblindness, but Usher syndrome is one of the most common causes ( Pennings, 2004 Sadeghi, 2005). Impairment in both hearing and vision, deafblindness, causes major reduction in intake of sensory information from the environment. These findings point toward the difficulties in accessing information that persons with USH2 experience, and could be part of the explanation of why individuals with USH2 report high levels of fatigue and feelings of stress ( Wahlqvist et al., 2013). The group with USH2 also had significantly longer reaction times, indicating that processing of visual stimuli is difficult due to the visual impairment. There was a larger variation in performance among the individuals with USH2 than in the matched control group.Ĭonclusion: The performance of the group with USH2 indicated similar problems with phonological processing skills and phonological WM as in individuals with long-term hearing loss. Results: The group with USH2 displayed significantly lower performance on tests of phonological processing, and on measures requiring both fast visual judgment and phonological processing. Study Sample: Thirteen participants with USH2 aged 21–60 years and a control group of 10 individuals with NVH, matched on age and level of education. The performance of the group with USH2 on the different cognitive measures was compared to that of a matched control group with normal hearing and vision (NVH). The design of the test situation and tests was specifically considered for use with persons with low vision in combination with hearing impairment. Further, the value in electroretinographic testing for diagnosis is demonstrated.Ĭongenital hearing loss Electroretinogram Inherited retinal disease Retinitis pigmentosa Usher syndrome.Objective: To investigate working memory (WM), phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2).ĭesign: The participants performed tests of phonological processing, lexical access, WM, and reading comprehension. Caution is thus warranted when predicting a visual prognosis in such a patient. The patient demonstrated that the absence of visual symptoms and favorable findings on functional testing on initial presentation might yet belie a future for austere visual loss. They showed that the patient was asymptomatic with only a moderate reduction on ERG testing at the time of diagnosis, but subsequently progressed to an advanced stage of retinal disease with severe visual loss. Our findings documented the long-term progression of Usher syndrome in this patient. ![]() We additionally reviewed the ocular findings on two of his siblings also afflicted with Usher syndrome type 2. The patient also had genetic testing performed. Nevertheless, 43 years after his initial examination, he showed severe degenerative changes in the retina.Ī 63-year-old man with Usher syndrome type 2 underwent ophthalmic examination that included visual acuity, optical coherence tomography (OCT), electroretinogram (ERG), fundus photography, and Goldmann visual field testing. Here, we present a case in which an adult patient had neither subjective visual complaints nor ocular findings at the time of diagnosis aside from a moderate reduction in rod and cone function on electroretinogram testing. However, diagnosis may initially be more difficult in cases with limited ocular findings. Patients characteristically experience congenital hearing loss, nyctalopia, reduced visual fields, and ultimately decreased visual acuity. The Usher syndrome phenotype is comprised of ocular and audiologic anomalies.
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