corneal dystrophy, gelatinous drop-like
Also found in: Acronyms.
corneal dystrophy, gelatinous drop-likeAn autosomal recessive disorder (OMIM:204870) characterised by severe corneal amyloidosis leading to blindness.
In the first decade of life: blurred vision, photophobia and foreign-body sensation; by third decade, raised, yellowish-grey, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required.
Caused by defects of TACSTD2, which encodes a cell surface receptor.