Ocular manifestations of Fraser syndrome in children. A clinical case
https://doi.org/10.21516/2072-0076-2021-14-3-93-96
Abstract
A clinical case of rare genetic disease, Fraser syndrome, in a 1.5-month-old infant is presented. Fraser syndrome is a congenital pathology characterized by diverse clinical symptoms, which involves a combination of acrofacial and urogenital abnormalities and may be accompanied by cryptophtalmos (anophthalmos or microphthalmos). A complex clinical and instrumental examination of the infant revealed the following ophthalmic manifestation of the Fraser syndrome: congenital abnormalities of eyelids, reduced palpebral fissures, significant reduction of the conjunctival sac, microcornea, vitreous fibrosis and retinal detachment. Non-surgical treatment and rehabilitation of infants with congenital microphthalmos consists in stepwise ocular prosthetics.
About the Authors
T. V. Sudovskaya
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Dr. Med. Sci., ophthalmologist, children's consultative and outpatient department
14/19, Sadovaya Chernogryazskaya St., Moscow, 105062, Russia
L. V. Kogoleva
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Dr. of Med. Sci., head of the children’s consultative and outpatient department
14/19, Sadovaya Chernogryazskaya St., Moscow, 105062, Russia
T. N. Kiseleva
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Dr. of Med. Sci., professor, head of ultrasound diagnostic department
14/19, Sadovaya Chernogryazskaya St., Moscow, 105062, Russia
A. N. Bedretdinov
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Cand. of Med. Sci., scientific researcher of ultrasound diagnostic department
14/19, Sadovaya Chernogryazskaya St., Moscow, 105062, Russia
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Review
For citations:
Sudovskaya T.V., Kogoleva L.V., Kiseleva T.N., Bedretdinov A.N. Ocular manifestations of Fraser syndrome in children. A clinical case. Russian Ophthalmological Journal. 2021;14(3):93-96. (In Russ.) https://doi.org/10.21516/2072-0076-2021-14-3-93-96
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