Gelatinous drop-like corneal dystrophy
Gelatinous drop-like corneal dystrophy, also known as amyloid corneal dystrophy, is a rare form of corneal dystrophy.
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The main pathological features are mulberry-shaped gelatinous masses beneath the corneal epithelium.
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The main pathological features in this dystrophy are mulberry-shaped gelatinous masses beneath the corneal epithelium.
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The amyloid nodules contain lactoferrin, but the gene encoding it is unaffected.
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The amyloid nodules have been found to contain lactoferrin , but the gene encoding lactoferrin is unaffected.
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It appears to be more frequent in Japan.
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This form of corneal amyloidosis appears to be more frequent in Japan.
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Mutations in the M1S1 (TACSTD2) gene have been described, but not all patients have them.
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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.
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Patients suffer from photophobia and foreign body sensation in the cornea.
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Patients suffer from photophobia, foreign body sensation in the cornea.
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The loss of vision is severe.
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The loss of vision is severe.
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Diagnosis may involve observing apple green dichroism of subepithelial deposition of amyloid viewed under polarized light with Congo red stain.
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Apple green dichroism of subepithelial deposition of amyloid viewed under polarized light. Congo red stain.
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Corneal transplantation is a treatment option, but recurrence occurs in all patients within a few years.
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Recurrence within a few years occurs in all patients following corneal transplantation .
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Soft contact lenses are effective in decreasing recurrences.
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Soft contact lenses are effective in decreasing recurrences.
Recurrence within a few years occurs in all patients following corneal transplantation, and the loss of vision is severe.
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]
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.[2]
This form of corneal amyloidosis appears to be more frequent in Japan.[3]
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.[2]
Recurrence within a few years occurs in all patients following corneal transplantation.[2] Soft contact lenses are effective in decreasing recurrences.[4]
- ↑ Nakaizumi, K. : A rare case of corneal dystrophy. Acta. Soc. Ophthal. Jpn. 18: 949-950, 1914
- 1 2 3 Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.
- ↑ Online Mendelian Inheritance in Man (OMIM): 204870
- ↑ Maeno, Sayo; Soma, Takeshi; Tsujikawa, Motokazu; Shigeta, Ryujiro; Kawasaki, Ryo; Oie, Yoshinori; Koh, Shizuka; Maruyama, Kazuichi; Kawasaki, Satoshi; Maeda, Naoyuki; Nishida, Kohji (April 25, 2019). "Efficacy of therapeutic soft contact lens in the management of gelatinous drop-like corneal dystrophy". British Journal of Ophthalmology. 104 (2). BMJ: 241–246. doi:10.1136/bjophthalmol-2018-313809. ISSN 0007-1161.
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