BACKGROUND: In 2016, B. A. Holden et al., based on a meta-analysis and epidemiological studies, made a worldwide prediction that by 2050, 50% of the global population will have some degree of myopia. Optical correction is one of the most proven and accessible strategies for clinical management of myopia, especially in children and adolescents. The design of DIMS lenses includes a central optical zone for correcting refractive errors and a paracentral zone of defocus segments with a constant myopic defocus (+3.50 D) surrounding the central zone. This ensures sharp central vision while simultaneously creating a zone of myopic paracentral peripheral defocus. AIM: Since most studies analyzing the efficacy of DIMS technology in controlling myopia have been conducted on individuals in Southeast Asia, and given the ethnic differences in the progression of myopia, the aim of this study was to evaluate, based on a retrospective analysis of real-world clinical practice data, the long-term (12, 24, 36 months) use of transfocal spectacle lenses with DIMS technology by pediatric patients with progressive myopia in the Russian Federation. METHODS: A retrospective analysis of data from 1363 Russian patients (2711 eyes) aged 5–17 years (mean age at treatment initiation 10.60 ± 2.19 years) diagnosed with myopia was conducted. They were using transfocal spectacle lenses with induced peripheral myopic retinal defocus (DIMS) technology for correction. At each visit, patients underwent best-corrected visual acuity (BCVA) testing, refraction testing using autorefractometry both without cycloplegia and with cycloplegia (cyclopentolate 1% or tropicamide 1% + phenylephrine twice, 10–15 min apart), and spherical equivalent refraction determination 15 minutes after the last drop. Axial length of the eye was measured using an optical biometer. RESULTS: Our analysis of data on the use of DIMS spectacle correction in children and adolescents of European descent with progressive myopia in the Russian Federation confirmed the good tolerability of this type of spectacle correction and its high efficacy in controlling myopia and slowing the growth of axial length with long-term use for 36 months, regardless of the patient’s initial degree of myopia. However, a better clinical effect of reducing the increase in the spherical equivalent of refraction and the increase in the axial length of the eyeball is noted in patients over 7 years of age, which is confirmed by other studies. CONCLUSION: Spectacle correction using DIMS technology has proven to be a well-tolerated and highly effective option for controlling myopia. When applied correctly and as part of a comprehensive treatment plan, it helps slow the pathological growth of the eyeball and bring it closer to the physiological parameters of healthy children.
Autosomal recessive Leber hereditary optic neuropathy is a rare disorder characterized by rapid bilateral vision loss caused by degeneration of retinal ganglion cells. The prevalence of the autosomal recessive form is considerably lower than that of classical mitochondrial Leber hereditary optic neuropathy, which may result in delayed diagnosis and inappropriate treatment strategies. This study presents a clinical case of disease onset in an adolescent with autosomal recessive Leber hereditary optic neuropathy and analyzes the clinical features of the disease course. We describe the case of a 16-year-old patient with progressive visual impairment initially diagnosed as post-traumatic optic neuropathy. A comprehensive ophthalmological examination was performed, including optical coherence tomography, visual evoked potential testing, computerized perimetry, and molecular genetic analysis. The disease manifested as subacute bilateral visual acuity loss accompanied by central scotomas and impaired color vision in the absence of significant inflammatory changes. Genetic testing did not reveal the common mitochondrial mutations associated with Leber hereditary optic neuropathy. Instead, a homozygous/hemizygous autosomal variant, c.152AG (p.Tyr51Cys), was identified. Based on the clinical and instrumental findings, a diagnosis of autosomal recessive Leber hereditary optic neuropathy was established. Pathogenetic treatment with idebenone at a dose of 300 mg three times daily was initiated; however, no improvement in visual function was observed during the first two months of therapy. The presented case and review of published data highlight the importance of including autosomal recessive Leber hereditary optic neuropathy in the differential diagnosis of patients presenting with a clinical picture suggestive of Leber hereditary optic neuropathy or bilateral optic nerve atrophy of unknown etiology. Accurate diagnosis requires a comprehensive clinical, instrumental, and genetic evaluation. Early initiation of pathogenetic therapy may increase the likelihood of preserving visual function; however, the effectiveness of treatment requires further investigation.
Advances in perinatal medicine have led to an increase in the number of preterm infants whose ocular development continues outside the physiological conditions of the intrauterine period. Current evidence indicates that the long-term ophthalmic consequences of prematurity are not limited to the development of retinopathy of prematurity (ROP) and include interconnected alterations in foveal morphology, retinal microvasculature, choroid, refraction, ocular biometry, and visual function. This review presents the concept of the ophthalmological phenotype of prematurity, which unites the structural, vascular, optical-biometric, and functional features of the eye that form under the influence of premature birth, perinatal factors, the severity of ROP, and the treatment administered. Prematurity is shown to be an independent factor determining the long-term trajectory of ocular development, whereas ROP and its treatment methods act as modifiers of morphofunctional changes. Current concepts of impaired foveogenesis, microcirculation features, choroidal and optical-biometric phenotypes, persistent avascular retina, functional impairment, and late complications are reviewed. The proposed concept substantiates the need for a shift from follow-up focused solely on the regression of active ROP toward a long-term phenotype-oriented model of patient care with a comprehensive assessment of the structural, vascular, biometric, and functional characteristics of the eye.
BACKGROUND: Progressive high-degree myopia in children remains a pressing problem in ophthalmology. One of the pathogenetic mechanisms of its development is a disorder of eye hemodynamics and accommodation. Scleral reinforcement surgeries improve the trophic function of the eye; however, the dynamics of modern indicators of blood flow and accommodation after bandaging scleroplasty, as well as their possible connection, is insufficiently studied. AIM: To evaluate the change of indicators of ophthalmogemodynamics and accommodation in patients with high progressive myopia after bandaging scleroplasty. METHODS: A single-center cohort open clinical study was conducted involving 36 patients (72 eyes) aged 13.0 ± 1.8 years with high progressive myopia (spherical equivalent 10.3 ± 3.3 D, anteroposterior axis 27.2 ± 1.4 mm). Paired eyes (n = 36) served as control. The investigation was performed before surgery, at 1 and 6 months after bandaging scleroplasty according to the modified method of Snyder–Thompson. The following parameters were evaluated: dynamic accommodative response (monocular, binocular, accommodation stability) on the WAM-5500 device; choroidal thickness and perfusion density of superficial and deep capillary plexuses of the retina on OCTA Mirante (Nidek); and the Mean Blur Rate blood flow indicator on Laser Speckle Flowgraphy RetFlow (Nidek). RESULTS: At 6 months after bandaging scleroplasty on operated eyes, a significant increase of monocular (MAR) and binocular (BAR) accommodative response was noted (by 0.28 D and 0.23 D, respectively; p 0.05), as well as increased accommodation stability (a 20% reduction in MAR dispersion and a twofold reduction in BAR trend). Perfusion density of the deep capillary plexus increased by 3.3%, and superficial—by 1.5% (p 0.05). Mean Blur Rate increased by 11% from baseline (p 0.05). Choroidal thickness increased after 1 month by 27.8 μm (14.6%; p 0.05), and after 6 months remained above baseline by 12.9 μm. On paired eyes, a similar but less pronounced tendency was observed. CONCLUSION: For the first time, this parallel study revealed synchronous progressive improvement of hemodynamics (increase in Mean Blur Rate, choroidal thickness, and perfusion density of the deep capillary plexus) and accommodation (increase of response and stability) on operated eyes over 6 months after bandaging scleroplasty, which confirms the pathogenetic connection of these processes and justifies not only the mechanical but also the trophic effect of the operation.
Leber hereditary optic neuropathy is a hereditary disorder that occurs in 90%–95% of cases due to a mutation in mitochondrial DNA. Recent publications have described an autosomal recessive form of Leber hereditary optic neuropathy caused by biallelic mutations in the nuclear DNAJC30 gene. This autosomal recessive form presents a significant clinical and diagnostic challenge due to its rarity, the lack of clear phenotypic differences from the mitochondrial form, the difficulty of interpreting instrumental findings, and the long time required for diagnosis verification. Therefore, each described case is important for better understanding of the disease course, diagnosis, and potential therapeutic approaches, which necessitates the publication of this clinical observation. The article presents a clinical case of an autosomal recessive form of Leber hereditary optic neuropathy. Patient A., 14 years old, presented to an ophthalmologist with complaints of a sharp painless decrease in vision in both eyes. A comprehensive ophthalmological examination revealed structural changes in the optic discs and retina characteristic of Leber hereditary optic neuropathy, confirmed by ophthalmoscopy and optical coherence tomography. The key step was molecular genetic testing, which identified a homozygous mutation in the DNAJC30 gene, establishing the diagnosis of autosomal recessive Leber hereditary optic neuropathy. With regular long-term administration of antioxidant, metabolic (including idebenone), and neurotropic therapy, a significant subjective and objective improvement in visual acuity was observed, despite persistent pronounced structural changes. This clinical case demonstrates that thorough genetic testing, including analysis of the DNAJC30 gene, is necessary in patients with clinical manifestations of this disease, especially in the absence of typical mitochondrial mutations. The observation confirms that the autosomal recessive form of Leber hereditary optic neuropathy, despite severe baseline structural damage, may respond positively to comprehensive metabolic therapy, highlighting the importance of early initiation. However, given the single-case nature of this observation, the findings on treatment efficacy require further experience and confirmation in larger studies. This report expands the understanding of the clinical picture and potential therapeutic options for this rare form of the disease.
