Usher syndrome in the city of Birmingham---prevalence and clinical classification
| Autor: | S Bundey, D Proops, A R Fielder, C I Hope |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Adult
Male medicine.medical_specialty Pediatrics Adolescent Genetic counseling Usher syndrome Population Prevalence Genes Recessive Deafness Cellular and Molecular Neuroscience Epidemiology medicine Humans Vision test education Aged Aged 80 and over education.field_of_study business.industry Hearing Tests Vision Tests Medical record Usher Syndrome Type 1 Syndrome Middle Aged Vestibular Function Tests Original articles - Clinical science medicine.disease Sensory Systems Pedigree Ophthalmology England Vestibular Diseases Female business Retinitis Pigmentosa |
| Zdroj: | British Journal of Ophthalmology. 81:46-53 |
| ISSN: | 0007-1161 |
| DOI: | 10.1136/bjo.81.1.46 |
| Popis: | AIMS—To estimate the prevalence of Usher syndrome in the city of Birmingham, and to establish a database of patients who have been classified into different clinical subtypes essential for future gene mutation analysis. METHODS—Symptomatic cases of Usher syndrome (US) resident in the city of Birmingham in June 1994 were ascertained through multiple sources. Ophthalmic and audiological reassessment together with examination of medical records and patient questionnaires allowed classification of three subtypes, US 1, US 2, and US 3. In addition, family pedigrees were examined and blood was taken from index patients for DNA extraction. RESULTS—In the population aged over 15 years the prevalence was 6.2 per 100 000 population for all US subtypes. The prevalence for US 1 and US 2 was 5.3 per 100 000 population. This is greater than previously reported. In the age group 30-49 years the prevalence approached 1 in 10 000. Clinical classification found 33% US 1, 47% US 2, and 20% US 3. CONCLUSION—This higher prevalence rate and greater frequency of US 2 and US 3 may reflect a more complete ascertainment. |
| Databáze: | OpenAIRE |
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