| Front | What is Meretoja syndrome? What gene mutation is it associated with? How does it present? |
|---|---|
| Back | ● Also known as lattice corneal dystrophy type 2, but is not a true dystrophy due to the systemic involvement ● Caused by mutation of gelsolin gene ● Presentation: corneal lattice-like changes with systemic amyloidosis, masked facies, dermatochalasis, lagophthalmos, pendulous ears, dry/lax skin, cranial/peripheral nerve palsies, orthostasis hypotension, cardiac conduction abnormalities, problems with perspiration |
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