Vol 16, No 4 (2021)

AIM: To evaluate the nosological structure of various etiologies in a specialized pediatric ophthalmosurgical center for 5 years (from 2016 to 2020)

MATERIAL AND METHODS: This prospective study was conducted at the Department of Eye Pathology in Children of the Helmholtz Moscow Research Institute of Eye Diseases from January 01, 2016, to December 31, 2020, and collected and summarized clinical observations in children with corneal opacity (CO) of various etiologies. Statistical annual reports and case histories of children who were hospitalized in the pediatric surgical department were analyzed. The analysis of discharge epicrisis was conducted only in children with corneal changes of various natures.

RESULTS: The proportion of children with corneal opacities from 2016 to 2020 was 13.5% (954 children out of 7066 hospitalized). Secondary CO was determined in most cases and amounted to 75.2%. The leading nosologies were congenital corneal opacities (24.8%), post-traumatic changes (33.6%), and post-inflammatory corneal degenerations (37.1%). Penetrating keratoplasty was more often performed in congenital pathology (55.8%), and scarification was more often used in the group of children with postuveal CO (96.3%).

CONCLUSION: Corneal opacities in children have a significant role in the overall structure of the visual organ pathology in children and have a large polymorphism. CO was secondary in the vast majority of children. Therefore, methods of CO prevention were searched. The general nosological structure did not undergo significant fluctuations throughout the study period.

Gaucher’s disease is a rare autosomal recessive disease that belongs to the group of sphingolipidoses. This pathology is caused by a lysosomal enzyme glucocerebrosidase deficiency, which leads to its substrate, glucosylceramide, accumulation in macrophages, and leads to damage to the nervous system, parenchymal organs, and the hematopoietic system. The literature reported isolated cases of vision organ damages such as oculomotor function disorders and violations of the structure of the vitreous, retina, cornea, choroid, and conjunctiva. During diagnosis, these clinical symptoms may cause interpretation and, possibly, substitution therapy evaluating difficulties. Retinal changes in Gaucher’s disease are poorly understood, but they are an important symptom of this disease, which dynamically visualizes and evaluates the substrate deposition in the preretinal and intraretinal layers. The effectiveness of replacement therapy based on the presence of retinal lesions remains controversial.

Herein, presented the description of a clinical case of a 10-year-old boy with ocular manifestations of Gaucher’s disease, a rare orphan disease. The comprehensive ophthalmological examination results revealed preretinal changes in whitish foci in the paramacular zone, microstructural changes in the central retina according to optical coherence tomography, and moderate changes in retinal functions according to electroretinogram, as well as visual field defects and decreased light sensitivity. The revealed changes indicate a violation of metabolic processes in the retinal layers of the eye, which leads to retinal foci (gosher) formation. Noninvasive visualization of these deposits helps assess the disease course and the substitution therapy effectiveness. The management of patients with Gaucher’s disease requires an interdisciplinary approach with the mandatory involvement of an ophthalmologist.

Optical nystagmus is an involuntary oscillatory movement. Nystagmus can occur as an isolated nosology and lead to decreased visual functions in combination with other pathologies. A decreased visual function, including visual acuity, is observed in many patients with optic nystagmus. Patients with optical nystagmus were noted by ophthalmologists with a significant difference in the acuity of monocular and binocular vision, which is much higher in the second case. As a rule, a difference is observed in visual acuity in the straight and forced position of the head. Frequently, nystagmus is combined with refractive errors. Some authors consider astigmatism the most common form of ametropia in nystagmus, and nystagmus itself, a predisposing factor for the presence of astigmatism. An important task in diagnostics is the quantitative eye movement assessments since the tactics of treatment and the prognosis of the course of the disease depend on this. One of the problems in the examination of patients with nystagmus is the assessment of the fundal condition. Modern optical coherence tomographs are helpful in the objective diagnostics of retinal structures of the posterior pole of the eye, as well as improved software, such as the “Eye Tracking” system, and an increased scanning speed allowed reliable studies even with spontaneous oscillatory eye movements and a significantly decreased visual acuity. With nystagmic relative amblyopia, both photosensitivity and fixation were violated, which may indicate the presence of organic changes in the central parts of the retina and a primary fixation violation.

Despite the comprehensive approach to the organizational system of ophthalmological services in the Russian Federation, several problems occurred concerning ophthalmological care for children aged 0–17 years. The statistical data study makes the availability and quality of medical care assessment possible in patients in each Russian Federation region, as well as planning the resource allocation, medicinal volume, and technical support. The article is based on the materials of the federal statistical observation in health resources and their activities: Forma No. 12, 14, 30, and 47. A comparative analysis of the state of the ophthalmological service in the subjects of the Russian Federation in dynamics for 2019–2020 was conducted on the activities of the bed fund, the staff of ophthalmologists, and the structure of ophthalmology in children. An objective health status assessment of the children of the Russian Federation aged 0–17 years was conducted in morbidity, the prevalence of eye diseases, and its accessory apparatus. Special attention is paid to the importance and the quality of preventive examinations and their connection with morbidity, including primary interaction of structural units of medical organizations that carry out occupational examinations and conduct patient admissions at the place of residence.

The presented material is useful in the work of the ophthalmological service, chief freelance ophthalmologists, specialists in organizational and methodological work, and practicing doctors.