Gelatinous drop-like corneal dystrophy
Gelatinous drop-like corneal dystrophy, also known as amyloid corneal dystrophy, is a rare form of corneal dystrophy. The disease was described by Nakaizumi as early as 1914.[1]
Presentation
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.[citation needed]
This form of corneal amyloidosis appears to be more frequent in Japan.[2]
Genetics
A number of mutations causing this disease have been described in the M1S1 (TACSTD2) gene encoding Tumor-associated calcium signal transducer 2, but not all patients have these mutations, suggesting involvement of other genes.[3]
Diagnosis
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Treatment
Recurrence within a few years occurs in all patients following corneal transplantation. Soft contact lenses are effective in decreasing recurrences.[citation needed]
References
- ^ Nakaizumi, K. : A rare case of corneal dystrophy. Acta. Soc. Ophthal. Jpn. 18: 949-950, 1914
- ^ Online Mendelian Inheritance in Man (OMIM): 204870
- ^ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.
External links
Media related to Gelatinous droplike corneal dystrophy at Wikimedia Commons
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