Features of ophthalmological manifestations in patients with Crouzon syndrome (literature review)
DOI: 10.32364/2311-7729-2025-25-3-5
O.I. Orenburkina1,2, M.A. Frolov2, A.E. Babushkin1,3, A.M. Frolov2, G.N. Ziyazova1
1All-Russian Center for Ocular and Plastic Surgery, Bashkir State Medical University,
Ufa, Russian Federation
2RUDN University, Moscow, Russian Federation
3Ufa Research Institute of Eye Diseases, Bashkir State Medical University, Ufa, Russian Federation
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
About the authors:
Olga I. Orenburkina — Dr. Sc. (Med.), Director of the All-Russian Center for Ocular and Plastic Surgery, Bashkir State Medical University; 67/1, Sorge str., Ufa, 450075, Russian Federation; Assistant Professor of the Department of Eye Diseases, RUDN University; 6, Miklukho-Maklaya str., Moscow, 117198, Russian Federation; ORCID iD 0000-0001-6815-8208
Mikhail A. Frolov — Dr. Sc. (Med.), Professor, Head of the Department of Eye Diseases, RUDN University; 6, Miklukho-Maklaya str., Moscow, 117198, Russian Federation; ORCID iD 0000-0002-9833-6236
Alexander E. Babushkin — Dr. Sc. (Med.), Head of the Department of Scientific Research and Development Arrangement, Ufa Research Institute of Eye Diseases, Bashkir State Medical University; 90, Pushkin str. / 14, Avrora str., Ufa, 450008, Russian Federation; ORCID iD 0000-0001-6700-0812
Alexander M. Frolov — C. Sc. (Med.), Assistant Professor of the Department of Eye Diseases, RUDN University; 6, Miklukho-Maklaya str., Moscow, 117198, Russian Federation; ORCID iD 0000-0003-0988-1361
Gulnaz N. Ziyazova — C. Sc. (Med.), Associate Professor, ophthalmologist of the All-Russian Center for Ocular and Plastic Surgery, Bashkir State Medical University; 67/1, Sorge str., Ufa, 450075, Russian Federation; ORCID iD 0009-0009-2090-4174
Contact information: Olga I. Orenburkina, e-mail: linza7@yandex.ru
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interest.
Received 23.04.2025.
Revised 22.05.2025.
Accepted 18.06.2025.
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