A hereditary autosomal recessive corneal dystrophy characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, PHOTOPHOBIA, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair VISUAL ACUITY, and CORNEAL TRANSPLANTATION is required for most patients. Mutations in the TACSTD2 gene have been identified. OMIM: 204870
Also Known As:
Corneal dystrophy, gelatinous drop-like; Amyloid corneal dystrophy, Japanese type; Amyloidosis, corneal; Corneal Dystrophy, Lattice Type III; Corneal amyloidosis; Corneal dystrophy, Lattice type 3; Gelatinous drop-like corneal dystrophy; Lattice Corneal Dystrophy, Type III; Lattice corneal dystrophy type3; Primary familial amyloidosis of the cornea