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A.J. Lotery, K. Avery, S.V. Goverdhan, A.J. Luff, A.J. Booth, D. Trump; Mutation Analysis of Fibulin 5 in a United Kingdom Cohort of Age–Related Macular Degeneration Patients . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1150.
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Purpose: To assess the allelic variation of fibulin 5 in a United Kingdom cohort of age related macular degeneration patients (AMD). Methods: 514 caucasian subjects with AMD and 188 normal controls were recruited from ophthalmic clinics at the Southampton Eye Unit and the island of Guernsey. AMD phenotypes were characterised by clinical examination, stereoscopic fundus photography, fluorescein angiography and optical coherence tomography, The cohort was screened for mobility band shifts in fibulin 5 amplimers by single stranded conformation polymorphism (SSCP) and automated silver staining. Samples showing band shifts were then direct sequenced on an ABI 3100 Genetic Analyzer. Novel mutations were then expressed in transfected cells. Results: Two novel missense mutations were identified in three AMD patients. In addition two intronic and two synonymous coding changes were each observed in six patients. The two observed missense changes secreted normally. A recurring phenotype of bilateral symmetrical basal laminar drusen was observed in AMD patients with fibulin 5 changes. Conclusions: This study identifies additional novel missence mutations in the Fibulin 5 gene in AMD and confirms that these changes are associated with basal laminar drusen.
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