corneal dystrophy—gelatinous drop-like
An autosomal recessive disorder (OMIM:204870) characterised by severe corneal amyloidosis leading to blindness.
Clinical findings Appear in first decade of life–blurred vision, photophobia, foreign-body sensation; by third decade, raised, yellowish-grey, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required.
Molecular pathology Defects of TACSTD2, which encodes a cell surface receptor, cause corneal dystrophy—gelatinous drop-like.
Synonyms Amyloid corneal dystrophy—Japanese type, amyloidosis—corneal, CDGDL, corneal dystrophy—lattice type III, GDLD, lattice corneal dystrophy—type III