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Article

A Novel Haplotype with the R345W Mutation in the<i>EFEMP1</i>Gene Associated with Autosomal Dominant Drusen in a Japanese Family

25 Feb 2010

Abstract excerpt

PURPOSE: To describe ophthalmic and molecular genetic findings in a family of Japanese patients with Malattia leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD), also known as autosomal dominant drusen. METHODS: Four patients with ML/DHRD, including a 42-year-old female proband, were ascertained. The proband underwent complete ophthalmic examinations, including fundus and electrodiagnostic investigations,...

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Identifiers

PMID: 19850834
DOI: 10.1167/iovs.09-4497

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