Article
Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism.
The British journal of ophthalmology - 1 Dec 2001
Clarke M, Mitchell K W, Goodship J, McDonnell S, Barker M D, Griffiths I D, McKie N
Abstract excerpt
AIMS: To describe the phenotype in three family members affected by a novel mutation in the gene coding for the enzyme tissue inhibitor of metalloproteinase-3 (TIMP-3). METHODS: Three members of the same family were seen with a history of nyctalopia and visual loss due to maculopathy. Clinical features were consistent with Sorsby's fundus dystrophy. Exon 5 of the gene coding for TIMP-3 was amplified by the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.