Premium
Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings
Author(s) -
Sacchetti Marta,
Macchi Ilaria,
Tiezzi Alessandro,
La Cava Maurizio,
MassaroGiordano Giacomina,
Lambiase Alessandro
Publication year - 2016
Publication title -
journal of cellular physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.529
H-Index - 174
eISSN - 1097-4652
pISSN - 0021-9541
DOI - 10.1002/jcp.25082
Subject(s) - tgfbi , corneal dystrophy , stroma , medicine , dystrophy , stromal cell , pathology , disease , genetic heterogeneity , cornea , ophthalmology , biology , gene , genetics , phenotype , immunohistochemistry
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.