Lattice Dystrophy-like Localized Amyloidosis of the Cornea Secondary to Trichiasis
| Autor: | Kent W. Small, Alexandre H. Principe, Danny Y Lin, Vivek S. Yellore, Anthony J. Aldave |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty genetic structures Corneal Stroma Corneal dystrophy Polymorphism Single Nucleotide Corneal Diseases Transforming Growth Factor beta Cornea Humans Medicine Epiblepharon Trichiasis Extracellular Matrix Proteins Eyelashes business.industry Amyloidosis Dystrophy Exons medicine.disease eye diseases Ophthalmology medicine.anatomical_structure Localized amyloidosis Eyelid Diseases Lattice corneal dystrophy sense organs Hair Diseases business |
| Zdroj: | Cornea. 24:112-115 |
| ISSN: | 0277-3740 |
| DOI: | 10.1097/01.ico.0000134194.71981.ab |
| Popis: | Purpose: To report a case of stellate and branching linear corneal stromal amyloid deposits secondary to trichiasis and the use of molecular genetic analysis to exclude lattice corneal dystrophy. Methods: Case report and review of the literature. A 30-year-old man with a history of chronic ocular irritation was found to have distichiasis, epiblepharon, and unilateral corneal amyloidosis indistinguishable from lattice corneal dystrophy. Screening of the TGFBI gene was performed to rule out a previously reported mutation associated with lattice corneal dystrophy. Result: A corneal biopsy performed before presentation to the authors confirmed the presence of corneal amyloidosis. Screening of exons 4, 11, 12, and 14 in the TGFBI gene identified 2 previously reported polymorphisms, Leu472Leu and Phe540Phe, but no other coding region changes. Conclusion: Corneal stromal amyloidosis clinically resembling lattice corneal dystrophy may be associated with trichiasis. The exclusion of a TGFBI-associated corneal dystrophy in this case, leaving trichiasis as the most likely cause of the corneal amyloid deposition, demonstrates the utility of molecular genetic analysis in confirming or refuting a presumptive clinical diagnosis. |
| Databáze: | OpenAIRE |
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