A rare penetrant TIMP3 mutation confers relatively late onset choroidal neovascularisation which can mimic age-related macular degeneration
Purpose To perform a genotype-phenotype correlation for three patients heterozygous for a missense mutation in the tissue inhibitor of metalloproteinase 3 (TIMP3) gene. Methods Retrospective, observational case series. The medical records and photographs were reviewed for three patients diagnosed...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
2015-10-23.
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| Subjects: | |
| Online Access: | Get fulltext |