[Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy]

Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive hereditary disease, which may result in bilateral loss of vision. The gene responsible for GDLD, M1S1 is mapped on the short arm of chromosome 1 (1p), but the possible etiology of this disease remains unclear. Corneal transplantation is the only treatment for visual rehabilitation. The detection of the mutations of the M1S1 gene and the possible etiological involvement of the amyloid deposits are discussed. The current literatures are extensively reviewed in this article.