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White, gelatinous deposits of amyloid are seen in the subepithelial region giving the surface of the cornea a multilobulated appearance resembling a mulberry. These usually appear in the first decade of life and cause photophobia as well as tearing from irritation caused by a severe foreign body sensation. Vision loss can be severe when the deposits coalesce to opacify the cornea. These deposits are found in the subepithelial region but in some families it may also be found in the Bowman layer also. The appearance of fusiform deposits in the stroma in some patients has led some to categorize gelatinous drop-like corneal dystrophy as a lattice dystrophy and have designated it as type III. GDLD seems to occur more commonly in Japan but often has a much later onset and the lattice appearance is more striking suggesting that it may be a unique form of corneal amyloidosis. True GDLD, however, occurs in diverse ethnic groups throughout the US, Europe and the Asian subcontinent. Cataracts have been reported in several young individuals with corneal amyloidosis.
No systemic abnormalities occur as part of this syndrome.
Autosomal recessive corneal amyloidosis results from multiple mutations in the M1S1 (TACSTD2) gene located on chromosome 1 (1p32). This is an autosomal recessive disease.
No satisfactory permanent treatment has been found. Ablative treatments may give temporary relief from symptoms and improve vision but the deposits recur within a few years.