Disease ID | Source | Name | Description |
204870 | OMIM | Corneal dystrophy, gelatinous drop-like (GDLD) | A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder 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. The disease is caused by variants affecting the gene represented in this entry. |