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gelatinous drop-like Corneal dystrophy

A hereditary autosomal recessive corneal dystrophy characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, PHOTOPHOBIA, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair VISUAL ACUITY, and CORNEAL TRANSPLANTATION is required for most patients. Mutations in the TACSTD2 gene have been identified. OMIM: 204870
Also Known As:
Corneal dystrophy, gelatinous drop-like; Amyloid corneal dystrophy, Japanese type; Amyloidosis, corneal; Corneal Dystrophy, Lattice Type III; Corneal amyloidosis; Corneal dystrophy, Lattice type 3; Gelatinous drop-like corneal dystrophy; Lattice Corneal Dystrophy, Type III; Lattice corneal dystrophy type3; Primary familial amyloidosis of the cornea
Networked: 62 relevant articles (2 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neoplasms (Cancer)
2. Hereditary Corneal Dystrophies
3. Amyloid Plaque
4. Trichiasis
5. Amyloidosis

Experts

1. Kawasaki, Satoshi: 9 articles (12/2020 - 09/2010)
2. Kinoshita, Shigeru: 9 articles (07/2019 - 03/2007)
3. Nishida, Kohji: 5 articles (12/2020 - 04/2011)
4. Tsujikawa, Motokazu: 5 articles (12/2020 - 09/2010)
5. Nakatsukasa, Mina: 5 articles (07/2019 - 09/2010)
6. Kitazawa, Koji: 3 articles (01/2015 - 12/2012)
7. Matsuda, Akira: 3 articles (08/2013 - 09/2010)
8. Yamasaki, Kenta: 3 articles (08/2013 - 09/2010)
9. Maruyama, Kazuichi: 2 articles (12/2020 - 01/2020)
10. Nagahara, Yukiko: 2 articles (12/2020 - 01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to gelatinous drop-like Corneal dystrophy:
1. Amyloid (Amyloid Fibrils)IBA
2. Proteins (Proteins, Gene)FDA Link
3. CalciumIBA
4. GelsolinIBA
05/15/1992 - "An immunohistochemical study of gelsolin immunoreactivity in corneal amyloidosis."
01/02/2020 - "Gelsolin amyloidosis, characterized by lattice corneal amyloidosis and polyneuropathy, results in recurrent keratitis and corneal scarring, such that keratoplasty is inevitable. "
05/15/1992 - "With the use of immunohistochemistry involving an antibody against gelsolin, we examined a corneal specimen from a patient with Meretoja's syndrome and 14 corneal specimens with lattice dystrophy type I, atypical lattice dystrophy, polymorphic amyloid degeneration, primary familial amyloidosis, or secondary corneal amyloidosis. "
12/01/1993 - "Corneal buttons from four patients with lattice corneal dystrophy (LD) type I, thought to be an isolated corneal amyloidosis, and from six patients with LD type II, part of systemic familial amyloidosis, Finnish type (FAF; Meretoja's syndrome), were studied by immunohistochemistry to determine the differential distribution in the amyloid deposits of amyloid P component (AP), mutated gelsolin specific for FAF, and native gelsolin. "
01/02/2020 - ": CD: corneal dystrophy; CLA: corneal lattice amyloidosis; CNS: central nervous system; CT: computed tomography; FAP: familial amyloidotic polyneuropathy; GDLCD: gelatinous drop-like corneal dystrophy; GLN: gelsolin; LCD: lattice corneal dystrophy; MRI: magnetic resonance imaging; OLT: orthotopic liver transplantation; TEM: transmission electron microscopy; TGFBI: transforming growth factor β induced; TTR: transthyretin."
5. LactoferrinIBA
6. Amino AcidsFDA Link
7. Amyloidogenic ProteinsIBA
8. DNA (Deoxyribonucleic Acid)IBA
9. CollagenIBA
10. Codon (Codons)IBA

Therapies and Procedures

1. Excimer Lasers
2. Hydrophilic Contact Lenses (Hydrophilic Contact Lens)
3. Corneal Transplantation (Keratoplasty)
4. Penetrating Keratoplasty
5. Slit Lamp