Orthopedic implications of keratoconus genetics.

K. Sfakianakis1, I. Frydas2, G. Kalasidou3, P. Syrmakesi4, D.R. Bakaloudi5, M. Stoila6, P. Tranos7, N. Kozeis8, M. Balidis9, A. Fiska10 and G. Anogeianakis11

1MD; Division of Surgical Anatomy, Laboratory of Anatomy, Medical School, Democritus University of Thrace, University Campus, Alexandroupolis, Greece; 2Laboratory of Environmental Engineering, Department of Chemical Engineering, Aristotle University of Thessaloniki, Greece; 3MD; Ippokrateion Hospital, Thessaloniki, Greece; 4MD; AHEPA University Hospital, Thessaloniki, Greece;  5Faculty of Medicine, Aristotle University of Thessaloniki, Greece and Ophthalmica Eye Institute, Thessaloniki, Greece; 6Faculty of Medicine, Aristotle University of Thessaloniki, Greece and Ophthalmica Eye Institute, Thessaloniki, Greece; 7MD, PhD; Ophthalmica Eye Institute, Thessaloniki, Greece; 8MD, PhD; Ophthalmica Eye Institute, Thessaloniki, Greece; 9MD, PhD; Ophthalmica Eye Institute, Thessaloniki, Greece; 10Laboratory of Anatomy, Medical School, Democritus University of Thrace, University Campus, Alexandroupolis, Greece; 11MD, PhD; Association for Training in Biomedical Technology, Thessaloniki, Greece

Keratoconus (KC) is a complex genetically heterogeneous multifactorial degenerative disorder, which presents anually, with an incidence of approximately 1 per 2000 and 2 cases per 100.000 population. KC follows an autosomal recessive or dominant pattern of inheritance and is associated with genes which interact with environmental, genetic and/or other factors. It is also associated with multiple system comorbidities among which bone related syndromes. The present review focuses on three syndromes; Apert syndrome, osteogenesis imperfecta, and congenital hip dysplasia. It attempts to identify the genes simultaneously contributing to KC and the three syndromes.

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