Usher syndrome type III (USH3): The clinical manifestations in 42 patients

Pakarinen, Leenamaija; Sankila, Eeva‐Marja; Tuppurainen, Kari; Karjalainen, S.; Kääriäinen, Helena

doi:10.3109/14015439509098741

Cited by 9 publications

(14 citation statements)

References 23 publications

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“…The latter included external eye examination, corrected visual acuity measurements, Goldmann perimetry, slit-lamp microscopy, ophthalmoscopy and electroretinography. The results of these examinations confirmed a diagnosis of RP in all affected individuals [Pakarinen et al, 1995b]. The patients were clinically diagnosed to have USH3 on the basis of medical history and the observed progressive SNHI.…”

Section: Clinical Examinations and Audiometrymentioning

confidence: 49%

“…As previously described, the Finnish USH3 patients showed an impressively wide spectrum of SNHI [Pakarinen et al, 1995b]. The present report focuses on the issues of non-linear progression and variation in degree and onset age of SNHI.…”

Section: Discussionmentioning

confidence: 94%

“…Medical history taking and ophthalmological examinations were performed on all affected individuals [Pakarinen et al, 1995a[Pakarinen et al, , 1995b. The latter included external eye examination, corrected visual acuity measurements, Goldmann perimetry, slit-lamp microscopy, ophthalmoscopy and electroretinography.…”

Section: Clinical Examinations and Audiometrymentioning

confidence: 99%

“…Speech recognition scores (percent correct recognition) were evaluated in 34 patients (3 with compound heterozygous mutations) using phonetically balanced Finnish word lists [Pakarinen et al, 1995b]. For each patient, the binaural mean maximum discrimination score was derived from the two separate performance-intensity plots established for monaural speech presentation.…”

Section: Clinical Examinations and Audiometrymentioning

confidence: 99%

“…In 1995, Pakarinen (now Kleemola) et al presented part of the results from the nationwide study mentioned above [Pakarinen et al, 1995b]. It comprised the clinical manifestations, including audiometric, ophthalmologic and vestibular examination results, of 42 USH3 patients.…”

Section: Introductionmentioning

confidence: 99%

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Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

et al. 2005

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Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish Usher syndrome type III patients (USH3) with Finmajor/Finmajor (n = 55) and Finmajor/Finminor (n = 4) USH3A mutations. These patients showed a highly variable type and degree of progressive sensorineural hearing impairment: from normal to moderate USH2A-like hearing impairment at young ages to profound or even USH1B-like hearing impairment at more advanced ages. Compound heterozygous patients generally showed a milder phenotype. The highest progression was seen during the first two decades of life, gradually slowing down with further ageing. This type of non-linear progression may be unique amongst the Usher syndromes. Speech recognition started to deteriorate at highly variable ages. In some patients, it jeopardised normal speech and language development, whereas in others it was still remarkably good at advanced ages.

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Section: Clinical Examinations and Audiometrymentioning

confidence: 49%

Section: Discussionmentioning

confidence: 94%

Section: Clinical Examinations and Audiometrymentioning

confidence: 99%

Section: Clinical Examinations and Audiometrymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

et al. 2005

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Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

et al. 1996

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The ophthalmological course of Usher syndrome type III

et al. 1995

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Usher syndrome is a recessive hereditary disease group with clinical and genetical heterogeneity leading to handicapped hearing and visual loss until middle age. It is the most common cause for deaf-blindness. Three distinct phenotypes and five distinct genotypes are already known. In Finland the distribution of known Usher types is different than elsewhere. Usher syndrome type III (USH3) is common in Finland and it is thought to include 40% of patients. Progressive hearing loss is characteristic of USH3. Elsewhere USH3 has been regarded as a rarity covering only several percent of the whole Usher population. The aim of this paper is to describe, for the first time, the course of visual handicap and typical refractive errors in USH3 and compare it with other USH types. From a total patient sample consisting of 229 Finnish USH patients, 200 patients' visual findings were analyzed in a multicenter retrospective follow-up study. The average progress rate during a 10-year follow-up period in different USH types was similar. The essential progress occurred below the age of 40 and was continuous up to that age. Visual acuity dropped below 0.05 (severely impaired) at the age of 37 and the visual fields were of tubular shape without any peripheric islands at the average age of 30. Clinically significant hypermetropia with astigmatism seems to be a pathognomonic clinical sign of USH3.

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Usher syndrome type III (USH3): The clinical manifestations in 42 patients

Cited by 9 publications

References 23 publications

Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

The ophthalmological course of Usher syndrome type III

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