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June 2010

This Month's BLINK
Lattice Dystrophy Type 2
Written by Sara Vaz-Pereira, MD, Leonor Duarte de Almeida, MD, Jorge Sousa Lé, MD, and Manuel Monteiro-Grillo, MD, PhD, Hospital de Santa Maria, Lisbon, Por­tugal.
Edited by Michael P. Kelly, CPT.

 (PDF 347 KB)

Blink01 June 2010
Blink02 June 2010
Photo credit: Sara Vaz-Pereira, MD, Hospital de Santa Maria,
Lis­bon, Portugal.

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.


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