title: Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.
abstract: 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.
authors.affiliation: Cornea and Ocular Surface Unit, Ospedale San Raffaele, IRCCS-Milan, Milano, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Sacchetti
authors.affiliation: Department of Ophthalmology, University of Rome "Campus Bio-Medico", Rome, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Macchi
authors.affiliation: Section of Ophthalmology, Department of Sense Organs, University of Rome "Sapienza", Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Tiezzi
authors.affiliation: Section of Ophthalmology, Department of Sense Organs, University of Rome "Sapienza", Rome, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: La Cava
authors.affiliation: Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Giacomina
authors.initials: G
authors.lastname: Massaro-Giordano
authors.affiliation: Section of Ophthalmology, Department of Sense Organs, University of Rome "Sapienza", Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Lambiase
mesh_terms: D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D003319:Corneal Stroma / Q000473:pathology; D004728:Endothelium, Corneal / Q000473:pathology; D019573:Epithelium, Corneal / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation