Malachkova N. V., Yatsenko D. A., Shkarupa V. M.


About the author:

Malachkova N. V., Yatsenko D. A., Shkarupa V. M.



Type of article:

Scentific article


About 145 million people over 5 years of age have impaired vision due to uncorrected myopia and other refractive errors, comprising 42% of all major causes of vision disorders. By the WHO prognosis, the number of patients with myopia can reach 49.8% of world population in 2050 (50.4% in the East Europe), and the proportion of those with high degree myopia will increase from 2.7% to 9.8%. Hence, the strategic aim of the WHO, to be achieved by 2050, is correction of refractive errors in order to prevent blindness. Special attention should be paid to progressive myopia, which can result in severe course of complications and is characterized by dysfunction of visual organ, having considerable influence on professional and social adaptation of children and adolescents, quality of life. In structural connective tissue abnormalities, there is either decreased content of certain types of collagen or their imbalance, this leading to decreased strength of connective tissue in various organs and systems. Such changes are characteristic of myopia and they are termed “connective tissue dysplasia” (CTD). In pathogenesis of progressive myopia, changes in structural, biochemical and biomechanical properties of sclera play the key role, this leading to its extension both in sagittal and frontal areas. Thus, it is quite reasonable to suggest that structural changes in collagen of fibrous tunic of eye in myopia can be due to connective tissue dysplasia syndrome (CTDS), heterogeneous group of inherited pathology, characterized by polymorphism of clinical presentation and occurs in 74-85% of schoolchildren. There are two types of CTD – differentiated and undifferentiated (UCTD). The first group consists mainly of orphan differentiated dysplasia with known gene defect of certain inheritance type and distinct clinical signs, including ophthalmologic ones. The following syndromes belong to this group of collagenopathies: Marfan syndrome, EhlersDanlos syndrome, Alport syndrome, Stikler syndrome, Marshall syndrome, Knoblokh syndrome, Schvartz-Jampel syndrome and others. UCTD is genetically heterogeneous multifactorial pathology, comprising 98% of all CTD in children population. In majority of cases gene defect in UCTD remains unclear. The main characteristic feature of such dysplasia is a wide range of clinical manifestations without distinct disease pattern. Unlike syndromic forms, UCTD has less evident manifestations and is often left unnoticed. At the same time, versatility of connective tissue defects in UCTD implies the diversity of visceral changes, some of them having severe clinical consequences. At present UCTD severity is determined according to classification of external and internal UCTD signs (phenes). The diagnosis of UCTD is made when at least six minor external and/or visceral CTD signs are present, after exclusion of all the above mentioned syndromes, burdened history of hereditary connective tissue changes and laboratory data, confirming metabolic disturbances of connective tissue. Refractive errors, nearsightedness being the most common of them, belong to major criteria of diagnosis of undifferentiated connective tissue dysplasia (UCTD) syndrome. They can be both a sole sign of the syndrome and a combination with other extraocular pathology. Constantly increasing number of children and adolescents with myopia, often associated with disorders of cardio-vascular, musculoskeletal system as well as other organs and systems, motivated the investigation of undifferentiated connective tissue dysplasia among the children and adolescents of Podilsk region. Ophthalmologic parameters – refraction, anteroposterior segment (APS) of the eyeball – were compared in 25 children with UCTD (50 eyes) and in 22 individuals with no UCTD (44 eyes). The children with UCTD were found to have significant increase of myopic refraction, (р = 0.02). Increase of APS in myopia was demonstrated to be associated with general manifestations of UCTD. The relationship between detected regularities and genetic markers of disturbances in connective tissue morphogenesis is planned to be studied in future.


myopia, refraction, anteroposterior segment, eyeball, undifferentiated connective tissue dysplasia


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Publication of the article:

«Bulletin of problems biology and medicine» Issue 2 (144), 2018 year, 189-193 pages, index UDK 617.753.2:616-007.17-053