Features of ophthalmological manifestations in patients with Crouzon syndrome (literature review)

Crouzon syndrome is a hereditary disease (FGFR2 mutation) representing craniosynostosis, caused by a combination of cranial bone underdevelopment and premature fusion of cranial sutures. In addition to ophthalmological manifestations, the review highlights a large number of abnormalities in various organs that are diagnostic signs of this disease in detail. Abnormal structure of connective bone and cartilage tissue is a leading factor of the syndrome etiopathogenesis. Moreover, abnormal shape of the skull and facial bones is associated with improper closure of the jaws and teeth, mental retardation, decreased intelligence, joint abnormalities, heart defects, hearing loss, etc. The syndrome diagnosis is based on a visual examination with a thorough family history, radiological diagnostic methods (primarily, cranial ones), and molecular genetic testings. Crouzon syndrome is associated with a quite high incidence of eye abnormalities. The malformations of the skull and orbits lead to visual impairment induced by amblyopia that, in turn, is caused by partial atrophy of the optic nerve, divergent strabismus, astigmatism and anisometropia. Also, the syndrome can cause exophthalmos, corneal conjunctival xerosis and many other conditions. To maintain life in such patients, rehabilitation involves surgical treatment (in particular, primary one should be performed within the first year of life) to reduce increased intracranial pressure, to manage musculoskeletal deformities and to prevent a progressive psychoneurological abnormality. KEYWORDS: hereditary disease, Crouzon syndrome, craniosynostosis, visual impairment, optic nerve atrophy, exophthalmos, corneal conjunctival xerosis, spontaneous dislocation of the eyeballs. FOR CITATION: Orenburkina O.I., Frolov M.A., Babushkin A.E., Frolov A.M., Ziyazova G.N. Features of ophthalmological manifestations in patients with Crouzon syndrome (literature review). Russian Journal of Clinical Ophthalmology. 2025;25(3):191–194 (in Russ.). DOI: 10.32364/2311-7729-2025-25-3-5