Ocular manifestations of Fraser syndrome in children. A clinical case
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 (an...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Real Time Ltd
2021-09-01
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| Series: | Российский офтальмологический журнал |
| Subjects: | |
| Online Access: | https://roj.igb.ru/jour/article/view/726 |
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| Summary: | 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. |
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| ISSN: | 2072-0076 2587-5760 |