Gelatinous drop-like corneal dystrophy.

Abstract excerpt

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive disorder, clinically characterized by grayish corneal deposits of amyloid and by severely impaired visual acuity. Most patients require corneal transplantation. We identified the gene responsible for GDLD, tumor-associated calcium signal transducer 2 (TACSTD2), by positional cloning and detected 4 disease-causing mutations in Japanese...

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