Клинический случай лечения ребенка с врожденной патологией радужки и хрусталика

    

     Congenital aniridia can result from autosomal dominant inheritance from a diseased parent, from spontaneous mutation, or from WAGR, WAGRO, and mental retardation-related syndromes. In addition, studies have shown that congenital aniridia associated with changes in the PAX6 gene is accompanied by additional systemic changes (pathology of the endocrine and nervous systems, metabolic disorders). In this regard, PAX6-associated aniridia is more and more often described as «Aniridial syndrome», or «PAX6-syndrome». Unlike other congenital eye malformations, pathological changes in aniridia (cataract, subluxation, keratopathy, secondary glaucoma) progress throughout life and can cause complete blindness. There are several types of aniridia depending on the type of inheritance, the type often found: – Family aniridia (autosomal dominant). In this case, the probability of a child getting sick is 50% [1–5].

    Case description Child T., born in 2005, with a diagnosis of: OU – Congenital lens subluxation, grade III. Congenital intrauterine polymorphic cataract. Aniridia is congenital hereditary. Glaucoma, congenital intrauterine initial subcompensated (m). Congenital high myopia with astigmatism. Horizontal small-bore nystagmus constant.

    Anamnesismorbi: According to the child's mother, she notes low vision in both eyes from birth. At the place of residence they turned to an ophthalmologist. Diagnosed with OU – Congenital cataract. Congenital aniridia. According to the child's mother, they were incorrectly informed and did not undergo examination or consult about treatment until the age of 13. The child goes to a specialized school for the visually impaired.

    As presented in schedule 1, child T., born in 2006, has a sick mother and a sick older brother (fig. 1, 2). The parents of the mother, the rest of the brothers, the sisters of the mother of the child T., are healthy.

    Visual acuity on admission:

    OD – 0.01 w/c sph (–) 5.0 D = 0.08;

    OS – 0.04 w/c sph (–) 5.0 D = 0.08.

    Intraocular pressure is contact:

    ОU – 19.0 mm Hg. Ultrasound: OD – 26.94 mm, OS – 26.94 mm.

    OU – Vitreous destruction. The retina is attached.

     Optical coherence tomography (OCT): OU – the relief of the macula is smoothed, the layers are not differentiated, thinning throughout.

    Objectively: OD – Constant horizontal movement of the eyeball. The conjunctiva is pale pink. The sclera is white. The cornea is transparent. D = 10 mm. The anterior chamber is uneven, moisture is transparent. The remains of the root of the iris in the form of a ring. The lens is displaced upward and outwardly, diffusely turbid in all layers. From 3: 00 h until 9:00 Zinn ligaments are weakened. At 6:00 o'clock, complete separation of the zinc ligament. Deep media are not visible in detail (fig. 3).

    OS – Constant horizontal movement of the eyeball. The conjunctiva is pale pink. The sclera is white. The cornea is transparent. D = 10 mm. The anterior chamber is uneven, moisture is transparent. The remains of the root of the iris in the form of a ring. The lens is reduced in size, displaced upward and outwardly, evenly clouded in the cortical layers. From 3: 00 h until 9:00 Zinn ligaments are weakened. At 6:00 o'clock, complete separation of the zinc ligament. Deep environments are not visible in detail (fig. 4).

    An operation was performed on both eyes: OU – Phacoaspiration of cataract with IOL implantation of the «Artificial Iris» complex + Anterior vitrectomy (fig. 5).

    Results

     Visual acuity at discharge: OD – 0.08 w/c cyl (+) 1.0 D = 0.2; OS – 0.1 n/c.

    IOP contact: OD – 19.0 mm Hg; OS – 16.0 mm Hg

    OU – Conjunctiva pale pink. The cornea is transparent. The anterior chamber is medium, moisture is transparent. Artificial iris complex in the correct position. IOL in the posterior chamber, the position is correct (fig. 6, 7).

    In conclusion, in pediatric ophthalmology, it is important to determine the clinical signs that have a prognostic value for the course of the disease in the future. In this regard, early diagnosis and early detection of complications are very important in order to preserve visual functions, visual fields, reduce the effect of damaging factors and ensure a better quality of life for aniridia patients.

    

    Информация об авторах

    Перизат Тогымова – офтальмолог, pikos_23@mail.ru, https://orcid.org/0000-0002-5591-2811

    Эрзен Мехмет – офтальмолог, drmehmeterzen@gmail.com, https://orcid.org/0000-0003-4071-4107

    

    Information about the authors

    Perizat Togymova – Dr. ophthalmologist, Ophthalmological center of Konovalov, Almaty, pikos_23@mail.ru, https://orcid.org/0000-0002-5591-281107

    Erzen Mehmet – Dr. ophthalmologist, Helmir Hospital, Turkey, drmehmeterzen@gmail.com, https://orcid.org/0000-0003-4071-4107

    

    Финансирование: Авторы не получали конкретный грант на это исследование от какого-либо финансирующего агентства в государственном, коммерческом и некоммерческом секторах.

    Согласие пациента на публикацию: Письменного согласия на публикацию этого материала получено не было. Он не содержит никакой личной идентифицирующей информации.

    Конфликт интересов: Отсутствует.

    

    Funding: The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    Patient consent for publication: No written consent was obtained for the publication of this material. It does not contain any personally identifying information.

    Conflict of interest: Тhere is no conflict of interest