Clinical and genetic aspects of glaucoma associated with congenital aniridia

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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

ORCID iD: 0000-0003-4371-775X

MD, researcher

Russian Federation, 1 Moskvorechye St, 115522 Moscow

Lyudmila A. Katargina

Helmholtz National Medical Research Center of Eye Diseases

ORCID iD: 0000-0002-4857-0374
Scopus Author ID: 137428

MD, Dr. Sci. (Med.), Professor

Russian Federation, Moscow

Anna Yu. Panova

Helmholtz National Medical Research Center of Eye Diseases

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, Moscow

Rena A. Zinchenko

Research Center for Medical Genetics; N.A. Semashko National Research Institute of Public Health

Author for correspondence.

MD, Dr. Sci. (Med.), Professor

Russian Federation, 1 Moskvorechye St, 115522 Moscow; Moscow


  1. Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, et al. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. Clin Genet. 2017;92(6):639–644. doi: 10.1111/cge.13019
  2. Netland PA. Aniridia: recent developments in scientific and clinical research. In: Parekh M, Poli B, Ferrari S, et al, editors. Management of Glaucoma in Congenital Aniridia. London: Springer; 2015. P. 27–37.
  3. Lim HT, Kim DH, Kim H. PAX6 aniridia syndrome: clinics, genetics, and therapeutics. Curr Opin Ophthalmol. 2017;28(5):436–447. doi: 10.1097/ICU.0000000000000405
  4. Katargina LA, Mazanova EV, Tarasenkov AO. Experience in monitoring and treating children with congenital aniridia. Practical medicine. 2015;2–1(87):79–80. (In Russ).
  5. Voskresenskaya AA, Pozdeeva NA, Vasil’eva TA, et al. The specific clinical features of congenital aniridia in the childhood. Russian Pediatric Ophthalmology. 2016;11(3):121–129. (In Russ). doi: 10.18821/1993-1859-2016-11-3-121-129
  6. Gramer E, Reiter C, Gramer G. Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study. Eur J Ophthalmol. 2012;22(1):104–110. doi: 10.5301/EJO.2011.8318
  7. Netland PA, Scott ML, Boyle JW 4th, Lauderdale JD. Ocular and systemic findings in a survey of aniridia subjects. J AAPOS. 2011;15(6):562–566. doi: 10.1016/j.jaapos.2011.07.009
  8. Chen TC, Walton DS. Goniosurgery for prevention of aniridic glaucoma. Trans Am Ophthalmol Soc. 1998;96(discussion 165–169):155–165.
  9. Adachi M, Dickens CJ, Hetherington J Jr, et al. Clinical experience of trabeculotomy for the surgical treatment of aniridic glaucoma. Ophthalmology. 1997;104(12):2121–2125. doi: 10.1016/S0161-6420(97)30041-4
  10. Khaw PT. Aniridia. J Glaucoma. 2002;11(2):164–168. doi: 10.1097/00061198-200204000-00013
  11. Edén U, Riise R, Tornqvist K. Corneal Involvement in Congenital Aniridia. Cornea. 2010;29(10):1096–1102. doi: 10.1097/ICO.0b013e3181d20493
  12. Katargina LA, Mazanova EV, Tarasenkov AO, et al. Federal clinical guidelines «Diagnostics, medical and surgical treatment of children with congenital glaucoma». Russian Pediatric Ophthalmology. 2016;11(1):33–51. (In Russ). doi: 10.18821/1993-1859-2016-11-1-33-51
  13. Barkan O. Goniotomy for glaucoma associated with aniridia. AMA Arch Ophthalmol. 1953;49(1):1–5. doi: 10.1001/archopht.1953.00920020004001
  14. Grant WM, Walton DS. Progressive changes in the angle in congenital aniridia, with development of glaucoma. Trans Am Ophthalmol Soc. 1974;72:207–228.
  15. Nelson LB, Spaeth G., Nowinski TS, et al. Aniridia. A review. Surv Ophthalmol. 1984;28(6):621–642. doi: 10.1016/0039-6257(84)90184-X.

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