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  2. Gelatinous drop-like corneal dystrophy

Gelatinous drop-like corneal dystrophy

Definition:

Gelatinous drop-like corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in lattice corneal dystrophy [DS:H00956] may also form in the deeper stroma. GDCD has been linked to mutations in the TACSTD2 gene. TACSTD2 is a cell surface phosphoglycoprotein as well as a substrate for protein kinase C. Mutations in the gene lead to a truncated protein which is thought to trigger amyloid formation in the cornea.

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