| 1. |
- Dreyer, Bo, et al.
(författare)
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Spectrum of USH2A mutations in Scandinavian patients with Usher Syndrome type II
- 2008
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Ingår i: Human Mutation. - : Wiley-Liss. - 1059-7794 .- 1098-1004. ; 29:3, s. 451-451
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common subtype, is defined by mutations in the USH2A gene encoding a short and a recently discovered long usherin isoform comprising 21 and 73 exons, respectively. More than 120 different disease-causing mutations have been reported, however, most of the previous reports concern mutations restricted to exons 1-21 of the USH2A gene. To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, patients from 118 unrelated families of which 27 previously had been found to carry mutations in exons 1-21 were subjected to extensive DNA sequence analysis of the full size USH2A gene. Altogether, 122 USH2A DNA sequence alterations were identified of which 57 were predicted to be disease-causing, 7 were considered to be of uncertain pathogenicity and 58 were predicted to be benign variants. Of 36 novel pathogenic USH2A mutations 31 were located in exons 22-73, specific to the long isoform. USH2A mutations were identified in 89/118 (75.4%) families. In 79/89 (88.8%) of these families two pathogenic mutations were identified whereas in 10/89 (11.2%) families the second mutation remained unidentified. In 5/118 (4.2%) families the USH phenotype could be explained by mutations in the USH3A gene. The results presented here provide a comprehensive picture of the genetic aetiology of Usher syndrome type IIA in Scandinavia as it is known to date.
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| 2. |
- Flynn, Mark, et al.
(författare)
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Audiological concept behind Baha BP100
- 2009
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Ingår i: 7th Asia Pacific Symposium on Cochlear Implants and Related Sciences (APSCI 2009), Singapore, 1-4 December.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 3. |
- Möller, Kerstin, et al.
(författare)
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Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective
- 2009
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Ingår i: Disability and Rehabilitation. - : Taylor & Francis. - 0963-8288 .- 1464-5165. ; 31:15, s. 1283-1292
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: The aim was to explore ophthalmic health care in female patients with Usher Syndrome type I (USH I) over 20 years and to evaluate the relationship between the ophthalmic health care and the health state of the patients from a health perspective. METHODS: A retrospective study of records from ophthalmology departments (OD) and low vision clinics (LVC) from 1985 to 2004. Assessment of the reports was performed based on the International Classification of Functioning, Disability and Health (ICF). Findings were analysed by manifest content analysis with ICF as a framework and using four themes: health care system, procedure examinations, patient's functioning and disability and procedure actions. RESULTS: The records of nine female patients (aged 25-39 years, 1985) with USH I were selected from the national database of USH. A great number of notes were collected (OD 344 and LVC 566). Procedure examinations were exclusively oriented towards body structure and function. All patients showed aggravated visual impairment over and above the hearing and vestibular impairment. Procedure actions were oriented towards environmental factors. No correlation was found between procedures performed and patient's experience of disability. CONCLUSIONS: The high degree of resource allocation was not correlated to the patients' impairment. The study indicates that the ophthalmic health care was characterised by inefficiency. This conclusion is very serious because patients very likely face severe disability and emotional difficulties. ICF is ought to be incorporated in ophthalmic health care strategy to improve the health care.
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| 4. |
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| 5. |
- Sadeghi, André M.
(författare)
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Audiological Indication of Baha
- 2008
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Ingår i: IV International Symposium on Childhood Deafness, 24-25 October Naples – Italy.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 6. |
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| 7. |
- Sadeghi, André M., et al.
(författare)
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Longterm visual prognosis in Usher syndrome types 1 and 2
- 2006
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Ingår i: Acta Ophthalmologica Scandinavica. - Copenhagen : Blackwell Munksgaard. - 1395-3907 .- 1600-0420. ; 84:4, s. 537-544
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To estimate the age at diagnosis of retinitis pigmentosa and to determine visual acuity deterioration, visual field impairment and the frequency of cataracts in Usher syndrome types 1 and 2. Methods: We carried out a retrospective study of 328 affected subjects with Usher syndrome types 1 and 2. Study subjects were divided into seven different age groups by decade. Data were analysed using descriptive statistics, general linear model anova and survival analysis. Results: Retinitis pigmentosa was diagnosed significantly earlier in subjects with Usher syndrome type 1 than in those with type 2. Visual acuity was significantly more impaired in affected subjects with Usher syndrome type 1 than in those with type 2 from 50 years of age onwards. Survival analysis revealed a significant difference in visual field loss (≤ 10 degrees) between the two groups, with type 2 subjects tending to be more impaired, while comparison indicated no significant differences between the groups in any of the other visual field categories. Cataract was found to be generally more common in Usher syndrome type 1 than type 2. Conclusions: Progressive loss of visual acuity and visual field begins to be substantial between the second and third decades of life in both Usher types. The rate of degeneration varies between individuals in both groups. The data are useful for the counselling of affected subjects with Usher syndrome types 1 and 2.
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