A.А. VOSKRESENSKAYA¹, N.A. POZDEYEVA¹, O.V. KHLEBNIKOVA², T.A. VASILYEVA², R.A. ZINCHENKO^2,3

¹Cheboksary branch of Eye Microsurgery Federal State Institution named after S.N. Fyodorov, 10 pr. Traktorostroiteley, Cheboksary, Russian Federation, 428028

²Federal State Budgetary Institution «Research Center for Medical Genetics», 1 Moskvorechye Str., Moscow, Russian Federation, 115478

³Russian National Research Medical University named after N.I. Pirogov, 1 Ostrovityanova Str., Moscow, Russian Federation, 117997

Voskresenskaya A.A. — ophthalmologist of the Department of Ambulant Surgery and Conservative Treatment, tel. (8352) 36-90-00, e-mail: vsolaris@mail.ru

Pozdeyeva N.A. — D. Med. Sc., Deputy Director for Science, tel. (8352) 36-91-81, +7-917-079-93-40, e-mail: npozdeeva@mail.ru

Khlebnikova O.V. — D. Med. Sc., leading researcher of the Laboratory of Genetic Epidemiology, ophthalmogenetician, tel. +7-903-565-43-16, e-mail: khlebnikova@med-gen.ru

Vasilyeva T.A. — Researcher of the Laboratory of Genetic Epidemiology, tel. +7-915-287-30-96, e-mail: vasilyeva_debrie@mail.ru

Zinchenko R.A. — D. Med. Sc., Professor, Head of the Laboratory of Genetic Epidemiology, tel. (499) 324-12-24, +7-925-232-04-63, e-mail: renazinchenko@mail.ru

The clinical course of isolated congenital aniridia was analyzed in from 57 patients (114 eyes) from 48 unrelated families. All patients underwent complex ophthalmologic investigation. The eyes were investigated for cataract, glaucoma, keratopathy, foveal hypoplasia; visual acuity and refraction type were evaluated. Sporadic aniridia was detected in 33 cases (58%), aniridia in family anamneses occurred in 24 people (15 families). In 20 people aniridia diagnosis was confirmed genetically. At the time of initial visit visual acuity ranged from 0.02 to 0.3 in 67.7% of eyes. Refractive abnormalities were found in 87% of cases: myopic refraction and astigmatism were determined in 53.4% ​​of eyes, hypermetropic refraction and astigmatism were detected in 46.6% of eyes, cataract (86%), glaucoma (22,8%), keratopathy (77%), nystagmus (85%) and foveal hypoplasia (77%) commonly accompanied aniridia. The main pool of surgery was performed between the ages of 20 and 30. The mediana age of visual impairment due to cataract opacities was 28 years; signs of IOP decompensation and progressive keratopathy were 25 and 31.8 years, respectively. Regular thorough monitoring, timely detection of complications, grounded surgery are the main principles of treatment of these pathology.

Key words: congenital aniridia, keratopathy, hypoplasia fovea, syndromic aniridia

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