Email this article Clinical and genetic aspects of glaucoma associated with congenital aniridia
- Authors: Sukhanova N.V.1, Katargina L.A.2, Panova A.Y.2, Zinchenko R.A.1,3
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Affiliations:
- Research Center for Medical Genetics
- Helmholtz National Medical Research Center of Eye Diseases
- N.A. Semashko National Research Institute of Public Health
- Issue: Vol 18, No 2 (2023)
- Pages: 67-74
- Section: Original study article
- URL: https://ruspoj.com/1993-1859/article/view/321768
- DOI: https://doi.org/10.17816/rpoj321768
- ID: 321768
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Abstract
Congenital aniridia is a hereditary congenital malformation of the visual organ with an autosomal dominant type of inheritance. The prognosis for vision largely depends on the development and progression of multiple complications (glaucoma, keratopathy, and aniridia fibrotic syndrome) at different ages.
AIM: To identify the most significant risk factors for glaucoma development and a poor prognosis associated with congenital aniridia.
MATERIAL AND METHODS: Seventy-three children (146 eyes) with PAX6-associated aniridia aged 0–16 yr were examined, with 41 males (56.2%) and 32 females (43.8%). The follow-up period of patients ranged from 2 to 6 yr. Thirty-five (47.9%) patients had complete aniridia, and 38 (52.1%) patients had partial aniridia. All patients underwent a comprehensive ophthalmological and molecular genetic examination.
RESULTS: Glaucoma developed in 28.8% of children. Anomalies in the anterior chamber angle (ACA) structure were detected in most patients with congenital aniridia, both with and without glaucoma. However, the relationship between the ACA and the timing of the manifestation of glaucoma was revealed. Furthermore, according to our study, the presence of glaucoma increases the risk of keratopathy progression.
CONCLUSION: In a molecular genetic study, the presence of deletions in the 3'-cis-regulatory region of the PAX6 gene was a predictor of glaucoma development.
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About the authors
Natella V. Sukhanova
Research Center for Medical Genetics
Email: natelasukhanova@gmail.com
ORCID iD: 0000-0003-4371-775X
MD, researcher
Russian Federation, 1 Moskvorechye St, 115522 MoscowLyudmila A. Katargina
Helmholtz National Medical Research Center of Eye Diseases
Email: katargina@igb.ru
ORCID iD: 0000-0002-4857-0374
Scopus Author ID: 137428
MD, Dr. Sci. (Med.), Professor
Russian Federation, MoscowAnna Yu. Panova
Helmholtz National Medical Research Center of Eye Diseases
Email: annie_panova18@mail.ru
ORCID iD: 0000-0003-2103-1570
SPIN-code: 9930-4813
MD, Cand. Sci. (Med.), researcher of the department of eye pathology of children
Russian Federation, MoscowRena A. Zinchenko
Research Center for Medical Genetics; N.A. Semashko National Research Institute of Public Health
Author for correspondence.
Email: renazinchenko@mail.ru
MD, Dr. Sci. (Med.), Professor
Russian Federation, 1 Moskvorechye St, 115522 Moscow; MoscowReferences
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