Congenital aniridia in pediatric practice: A review

This is the authors' abstract. We don't add key points for this paper.

Congenital aniridia (CA) is a rare congenital genetic disorder. Currently, more than 20 congenital hereditary (chromosomal and monogenic) syndromes include CA. It is divided into a nonsyndromic type involving all eye structures (75% of cases) and a syndromic type (20%, including WAGR syndrome). The syndromic types of aniridia include CA aggravated by the involvement of the central nervous system, endocrine, genitourinary, and other systems and organs (10%); WAGR syndrome (10%) and atypical rare forms of CA that occur with other complex monogenic or chromosomal diseases. The difficulty in identifying and confirming CA using DNA-based diagnostic methods is due to multiple causes that lead to the PAX6 gene dysfunction (intragenic PAX6 mutations and large chromosomal rearrangements involving the 11p13 chromosomal region). Patients with CA require a comprehensive approach, including both early diagnosis and treatment of complications. Ophthalmologists and pediatricians face the problem of predicting the disease course since there are many variations in the state of structures and functions of the eye and comorbidities since birth, as well as the diversity of their course, which is due to both genetic factors and the adequacy of therapeutic and preventive measures. The article presents epidemiology, ophthalmic examination data, related syndromes, and the latest advances in genetics related to CA. It also describes the routing of medical support for patients with CA, in which a single pediatrician or a specialist who deals with problems of visual impairment, who has knowledge of CA and works with a specialized team, observes and manages the patient for many years.