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.