Gelatinous drop-like corneal dystrophy
| Gelatinous drop-like corneal dystrophy | |
|---|---|
| Classification and external resources | |
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File:Gelatinous drop-like corneal dystrophy 1.JPEG A completely opaque cornea with multiple drop-like nodular opacities. Some blood vessels are present in the opaque cornea | |
| OMIM | 204870 |
Gelatinous drop-like corneal dystrophy (GDCD, subepithelial amyloidosis, primary familial amyloidosis) is a rare form of human corneal dystrophy. A number of mutations causing this disease have been described in the TACSTD2 gene encoding Tumor-associated calcium signal transducer 2, but not all patients have these mutations, suggesting involvement of other genes.[1]
The main pathological features in this dystrophy are mulberry-shaped gelatinous masses beneath the corneal epithelium. Patients suffer from photophobia, foreign body sensation in the cornea. The loss of vision is severe. The amyloid nodules have been found to contain lactoferrin, but the gene encoding lactoferrin is unaffected.
The disease was described by Nakaizumi as early as 1914.[2]
Alternative names
- Corneal amyloidosis
- Amyloid corneal dystrophy, Japanese type
- Lattice corneal dystrophy type III
- Familial subepithelial corneal amyloidosis
References
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- ↑ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576 Freely accessible. PMID 19236704.
- ↑ Nakaizumi, K. : A rare case of corneal dystrophy. Acta. Soc. Ophthal. Jpn. 18: 949-950, 1914
