Российский офтальмологический журнал (Sep 2021)

Ocular manifestations of Fraser syndrome in children. A clinical case

  • T. V. Sudovskaya,
  • L. V. Kogoleva,
  • T. N. Kiseleva,
  • A. N. Bedretdinov

DOI
https://doi.org/10.21516/2072-0076-2021-14-3-93-96
Journal volume & issue
Vol. 14, no. 3
pp. 93 – 96

Abstract

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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.

Keywords