Clinical manifestations of familial exudative vitreoretinopathy in the first year of life
https://doi.org/10.21516/2072-0076-2021-14-3-8-13
Abstract
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary retinal disease characterized by polymorphism of clinical manifestations and varied prognoses. Diagnosing FEVR is particularly difficult when it manifests itself at an early age.
Purpose: to analyze the clinical manifestations of FEVR in the first year of a child’s life.
Material and methods. 69 children with FEVR were observed at the Helmholtz National Medical Research Center of Eye Diseases from January 2012 to February 2020.
Results. 15 children (2 girls and 13 boys, 22 % of all those observed) showed ophthalmic changes in their first year. The age of the patients revealing the first clinical signs ranged from 1 week to 8 months (the median was 4 months). 4 eyes (15 %) were found to have stage I of the disease, 9 (33 %) — stage II, 4 (15 %) — stage III, 7 (26 %) — stage IV, and 3 (11 %) — stage V. Stages III to V associated with bad functional prognosis were found in half of the cases (52 %), the earliest symptoms were detected at the age of 3 weeks.
Conclusions. While FEVR is a severe and potentially progressive disease, its diagnosis during the 1st year of life is important and requires improvement. Early diagnosis is complicated by the fact that the etiological and pathogenetic aspects of the disease are underresearched, which makes it necessary to focus on studying the factors contributing to the development and progression of FEVR.
About the Authors
L. A. Katargina
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Dr. of Med. Sci., professor, head of the department of children’s eye pathology, deputy director
14/19, Sadovaya Chernogryazskaya, Moscow,105062, Russia
E. V. Denisova
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Cand. of Med. Sci., senior researcher, department of children’s eye pathology
14/19, Sadovaya Chernogryazskaya, Moscow,105062, Russia
E. A. Geraskina
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
PhD student, department of children’s eye pathology
14/19, Sadovaya Chernogryazskaya, Moscow,105062, Russia
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Review
For citations:
Katargina L.A., Denisova E.V., Geraskina E.A. Clinical manifestations of familial exudative vitreoretinopathy in the first year of life. Russian Ophthalmological Journal. 2021;14(3):8-13. (In Russ.) https://doi.org/10.21516/2072-0076-2021-14-3-8-13
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