corneal dystrophy—gelatinous drop-like

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corneal dystrophy—gelatinous drop-like2016-11-28T21:51:39+00:00

corneal dystrophy—gelatinous drop-like

OPHTHALMOLOGY

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 

References http://www.uniprot.org/uniprot/P09758

http://www.omim.org/entry/204870

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