Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings
| Autor: | Marta Sacchetti, Giacomina Massaro-Giordano, Alessandro Lambiase, Alessandro Tiezzi, Maurizio La Cava, Ilaria Macchi |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Mutation Pathology medicine.medical_specialty genetic structures Physiology business.industry Clinical Biochemistry Dystrophy Genetic Alteration Cell Biology Gene mutation medicine.disease_cause eye diseases Pathophysiology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure Stroma 030221 ophthalmology & optometry medicine business TGFBI Corneal epithelium |
| Zdroj: | Journal of Cellular Physiology. 231:261-269 |
| ISSN: | 0021-9541 |
| DOI: | 10.1002/jcp.25082 |
| Popis: | Corneal dystrophies are a heterogeneous group of bilateral, inherited, rare diseases characterized by slowly progressive corneal opacities, that lead to visual impairment. Most of them have an autosomal dominant pattern of inheritance with variable expressivity, but new mutations have been described. Many corneal dystrophies have been genetically characterized and the specific gene mutations identified, such as for the epithelial-stromal TGFBI dystrophies. Current classification systems identified four main groups of corneal dystrophies based on clinical, histologic, and genetic information. Diagnosis is performed during a routine ophthalmic examination that shows typical cellular abnormalities of the corneal epithelium, stroma, or endothelium. Disease progression should be carefully monitored to decide the proper clinical management. The treatment of corneal dystrophies is variable, depending on symptoms, clinical course, severity, and type of dystrophy. Management aimed to reduce symptoms and to improve vision, includes different surgical approaches. Novel cellular and genetic therapeutic approaches are under evaluation. J. Cell. Physiol. 231: 261-269, 2016. © 2015 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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