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|Photo credit: Sara Vaz-Pereira, MD, Hospital de Santa Maria,
A 59-year-old female patient reported blurred vision and recurrent corneal erosion for almost 20 years. Inspection of her face revealed dermatochalasis. On ophthalmic exam, we observed bilateral corneal lattice dystrophy type 2 accentuated by retroillumination. The rest of the exam was normal.
She was diagnosed with familial amyloid polyneuropathy of the Finnish type (FAF), a rare systemic disease with autosomal dominant transmission. It is caused by a mutation in the gelsolin gene causing extracellular amyloid deposition and is characterized clinically by a triad of ocular, neurological and skin changes.
The treatment for this disease is mainly palliative, and the presence of corneal lattice dystrophy should alert for associated systemic disease.