Cataract is the most common cause of blindness worldwide. The standard treatment for cataracts is phacoemulsification with implantation of an intraocular lens (IOL). Removing cataracts can significantly improve vision and the quality of life associated with vision. The review considers the necessary biometric studies before phacoemulsification of patients with macular pathology, the long-term effects of phacoemulsification in patients with various macular pathologies, the features of implantation of mono- and multifocal IOLs in such patients, as well as possible complications after phacoemulsification in patients with macular pathology. The importance of examination of the macula before phacoemulsification of cataract has been shown. A review of changes in different eye’s parts after phacoemulsification in patients with various pathologies: with the progression of myotic traction, with combined cataract and glaucoma, in patients with diabetes, with an epiretinal membrane, and the features of implantation of multifocal lenses and IOLs with UV protection are considered. Not only the postoperative condition is assessed, but also the changes between the preoperative and postoperative conditions. In addition, the review demonstrates the dynamic healing processes and changes in macular parameters (after different times — from several days to several years) in order to obtain a rational analysis result.
Cataracts and age-related macular degeneration (AMD) are the leading causes of blindness worldwide. The main symptoms of AMD are: a gradual decrease in visual acuity to the hundredth, metamorphosis, the appearance of a central scotoma, which reduces the quality of life of the patients and leads to disability. Prosthetic and stationary means of optical rehabilitation, such as magnifiers for the visually impaired, glasses, video systems are cumbersome and poorly functional. An alternative correction option is intraocular vision devices that improve the patient’s quality of life. The review considers various types of intraocular implants, in particular, the intraocular telescope system (intraocular miniature telescope-IMT, IOL-VIP, IOL-AMD), Fresnel lens, Lipschitz lens, Scharioth macular lens (Scharioth macula lens, SML), EyeMax Mono, LENTIS ® MAX IOL LS-313 MF80. The use of high-tech devices for the correction of visual disturbances in AMD has opened a new direction in the rehabilitation of low vision. Further study and implementation of the latest generation of “macular” lenses will improve the quality of life of patients with advanced stages of AMD.
The World Health Organization considers eye disorders as the serious problem of our time [1]. According to world statistics, the number of people with visual impairment is 1.3 billion, most of this number are people over 50 years old [2]. Over the past 20 years, developments in the treatment of AMD and fundus diseases have advanced and include drugs such as vascular endothelial growth factor inhibitors. The molecular structures of drugs intended for intravitreal use range from RNA aptamers (pegaptanib) to full-length monoclonal antibodies (mAb: bevacizumab) to Fab fragments (ranibizumab) and an antibody conjugate (aflibercept). In addition, single-chain variable fragment (scFv: brolucizumab), bispecific monoclonal antibody (faricimab) and DARPin (abigar pegol) show promising results in clinical trials.[6],[7] Brolucizumab (RTH258) was developed by ESBATech (ES-BATech AG — Schlieren ZH, Switzerland) originally under the name ESBA1008, an inhibitor of the humanized single chain antibody fragment (scFv) of all isoforms of vascular endothelial growth factor-A (VEGF-A). [6],[7],[11]. The Faricimab (ROCHE, Switzerland) molecule is characterized by the presence of a bispecific antibody that simultaneously binds to both VEGF-A and Ang-2; the drug consists of an anti-Ang-2 antigen-binding fragment (Fab), an anti-VEGF-A Fab and a crystallizing modified fragment (Fc region) with a total size of 150 kDa. This “crossover” effect provided high affinity for both targets while also maintaining a good stability profile compared to natural antibodies [8]. Abicipar Pegol (Abicipar, Allergan. Dublin, Ireland) is a DARPin aimed at binding all VEGF-A isoforms, like ranibizumab. It has a higher affinity and a longer half-life from the eye than ranibizumab (>13 days versus 7.2 days), making it a potential drug with a longer duration of action and the need for less frequent injections [15]. In this article, we tried to summarize the literature data on new anti-VEGF drugs being developed and ready for release. We hope that the appearance of these drugs on the market will make it possible to reduce the injection load on the patient and optimize their material costs.
The role of mitophagy in hereditary optic neuropathies is considering in this review. Mitochondria are intracellular double membrane organelles. They are one of the main components of all eukaryotic cells, they perform many different functions in the cell. However, the main function of mitochondria is to supply cells with energy in the form of ATP. The ATP synthesis is carried out due to the respiratory chain five protein complexes work, the main components of the chain are located in the inner mitochondrial membrane. It is known that proteins that form all respiratory chain complexes (except II) are encoded by both nuclear and mitochondrial genes. The mitochondrial electron transport chain dysfunction leads to the mitochondrial diseases development, which can be a result of mutations both in mtDNA and in nDNA. The most common eye mitochondrial diseases are hereditary optic neuropathies (HON), such as Leber Hereditary Optic Neuropathy (LHON). The main cause leading to the disease are mtDNA mutations. These mutations lead to the respiratory chain complexes dysfunction (mainly I), which results in mitochondrial damage. To remove damaged mitochondria in time, cells have special regulatory systems. These systems are responsible for the damaged mitochondria detection, isolation and degradation through a specific form of autophagy, mitophagy. For normal functioning, cells need to maintain a constant balance between mitochondrial biogenesis and mitophagy. A violation of this balance leads to the disease. It was revealed that mitophagy, an important retinal ganglion cells protection mechanism, is impaired in patients with LHON. The mitophagy activation may have the therapeutic potential. Some pharmacological agents activate mitophagy and thereby slow down the disease development in patients with hereditary optic neuropathies, such as LHON. Some of them, such as rapamycin, trehalose, metformin, spermidine, NAD+ , are described in the review.
This literature review describes the effect that orthokeratology lenses render on various eye’s structures. The use of these lenses, in addition to the expected changes can cause undesirable effects. The positive aspects include stopping or slowing the myopia’s progression, as well as a temporary improvement of uncorrected visual acuity by changing the shape of the anterior surface of the cornea. Undesirable moments are a change in the homeostasis of the tear film, epitheliopathy, the lens binding, in addition, there is the appearance of an iron arch, an increase in the visibility of fibrillary lines, a transient change in the biomechanical properties of the cornea. On the positive side, these changes do not affect visual function and eye health; moreover, they are reversible. At the same time, the terms of recovery of various structures of the eye can differ from several weeks to several months, depending on the duration of treatment and the target refraction. Thus, the use of orthokeratology lenses is a safe and effective method for correcting and “controlling” myopia.
Central serous chorioretinopathy (CSC) is a disease of complex origin and unknown etiology. Traditionally, two clinical forms of CSC are verified in accordance with the activity and duration of the pathological process: classic acute form and chronic CSC. Nowadays, there is no unified concept accepted for the management of patients with this disease, particular difficulties exist in cases of chronic CSC. This literature review highlights current trends and approaches to the treatment of CSC patients — from focal laser photocoagulation to physical methods oh therapy. The therapeutic approach as a whole depends on the form of the CHS. In most cases of the acute form of CSF, spontaneous regression, spontaneous adhesion of RPE detachment and retinal neuroepithelium are noted within several months from the onset of the disease. Therapy for the chronic form of this disease is still a difficult task and a controversial issue. Direct laser coagulation of the retina at the oozing point is recognized as the most effective method of therapy for acute typical form of CSF. In the chronic form of CSC, photodynamic therapy, transpupillary thermotherapy and subthreshold micropulse laser exposure are used. The goal of drug therapy for CSF is to activate the processes of resorption of serous fluid from the subretinal or subpigmented space, reduce the activity of pathological processes in the choroid, and improve trophism and metabolism. The currently used methods of treating chronic CSH have a number of disadvantages and variable efficacy. The existence of treatment-resistant cases is the subject of further research and clinical research. The development of new physical and physiopharmacological methods of treatment for CSF is perspective.
The review reflects the current data on unmodified risk factors for cataract development; most prominent are genetic factors and age. Research shows that about half of nuclear and two-thirds of cortical cataracts can be hereditary. Congenital cataracts are hereditary in 25 % of cases, of which 75 % are autosomal dominant. From 30 % to 50 % of congenital cataracts are caused by mutations in genes encoding proteins in the structure of the lens. To date, 115 genes have been identified associated with syndromic and non-syndromic cataracts. Proof of the genetic theory is the development of nuclear cataract in Stickler syndrome (SS), a relatively rare multisystem connective tissue disease inherited in an autosomal dominant manner. The syndrome is characterized by structural abnormalities in collagens of types 2, 9 and 11 and manifests itself in various clinical signs, including the development of facial skeleton anomalies, damage to the vision organ, the musculoskeletal system and the auditory system. Ophthalmic complications of SS are represented by a combination of pathological myopia, retinal detachment, ocular hypertension, early vitreous liquefaction and premature cataract development. Age is the main unmodified risk factor for developing cataracts. The most common form of cataract is age-related nuclear cataract, which in developing countries accounts for 50 % to 90 % of the total number of cases (> 70 versus ≤ 65 years, OR = 12.7). The pathogenesis of age-related nuclear cataract is associated with oxidative damage to proteins under certain conditions: a decrease in the concentration of glutathione (GSH) and vitamin C in the lens nucleus. When examining the frequency of cortical cataract, there was also a relationship with an increase in the age of patients (> 70 years versus ≤ 65 years, OR = 5.96). With age, a barrier is created for the advancement of GSH from the site of its synthesis and regeneration in the cortical layer of the lens towards the nucleus. Numerous experimental and morphological studies confirm the accommodative theory of the development of age-related cortical cataract.
Lens deformations caused by accommodation forces lead to heterogeneity of the lens density at the border of the nucleus and cortical layers, an increase in light scattering and damage to the lens fibers. Genetic predisposition and age are interactions of many complex factors that can contribute to the development of cataracts.
This article presents actual data on the retinal and optic nerve electrical stimulation. The physical basics of the electrical stimulation biological effect on cellular elements and nerve fibers are discussed. Ocular indications for electrical stimulation, as well as local and general contraindications are listed. Strategies of delivery and brief historical overview are given. The article presents current data on the electrical stimulation clinical effectiveness in the management of patients with degenerative and dystrophic diseases of the retina and optic nerve: age-related macular degeneration, retinitis pigmentosa, optic nerve atrophy and glaucoma optic neuropathy. The data on the clinical efficacy of electrophthalmostimulation in the treatment of patients with degenerative-dystrophic diseases of the retina and optic nerve: age-related macular degeneration, retinal pigment abiotrophy, optic nerve atrophy and glaucoma optic neuropathy are presented. Electrophthalmostimulation is a modern method of physical treatment of patients with diseases of the retina and optic nerve of a degenerative-dystrophic nature. The method is generally recognized and widely used in clinical work, not only traditionally on the territory of the Russian Federation, but also in world practice. In experiments and on animal models, the indisputable advantage of electrical stimulation of the retina and optic nerve has been proven — the etiopathogenetically determined preservation of the remaining and restoration of lost visual functions in case of ophthalmic diseases leading to blindness. Further development of this direction of electrotherapy includes standardization of the most effective techniques for various ophthalmopathologies and optimization of the parameters of courses and sessions of electrical stimulation of the retina and optic nerve. The latter presupposes the conduct of multicenter, randomized, placebo-controlled clinical trials with a sufficient volume of clinical material and reliable statistical processing of the results obtained.
Macular hole (MH) is one of the most common pathologies of the macular area of the retina which leads to a significant decrease in visual acuity. The article presents early comparative morphofunctional results of surgical treatment of 60 patients (22 men and 38 women) with MH of the III–IV stages according to Gass and the minimum diameter (MinD) MH 404–696 microns. All patients included in the study had pseudophakia and have not previously undergone endovitreal interventions. Patients with MH with a diameter of 404–696 μm were randomized and divided into 3 equal groups: after three-port 25G pars plana posterior vitrectomy the patients of the first group underwent peeling of the inner limited membrane (ILM) with the convergence of the edges of MH and vitreous cavity tamponade with 16 % gas-air mixture of perfluoropropane (C2F6). In the area of the macular defect, patients of the second group underwent application of autologous conditioned plasma (ACP) in the PFСs environment and the convergence of the edges of MH. In patients of the third group, MH was closed using the technique of an inverted ILM flap. In patients of groups 2 and 3 the operation was completed by tamponade of the vitreous cavity with sterile air. Standard and special research methods, such as optical coherence tomography of the macular zone, were performed before surgery, 5 days and 1 month after surgery in all patients from groups 2 and 3. Patients from group 1 were examined before surgery and 1 month after surgical treatment, due to the long-lasting gas-air mixture in the vitreous cavity. Restoration of the correct structure of the fovea with the formation of U- and V-shaped profile during OCT after 1 month was noted in all cases. The data obtained demonstrate the peculiarities of using the inverted ILM flap and ACP methods in comparison with the traditional method of MH closure with a gas-air mixture.
Cataract is one of the most common diseases in ophthalmology nowadays, ranks first in the world among the causes of reversible blindness and remains a multifactorial disease, involving complex interactions between metabolic disorders, genetic predisposition and environmental risk factors. Studying the properties of the lens is important in “cataract” surgery from a clinical perspective. Determination of the mechanical hardness of the lens is particularly important to optimize the amount of ultrasonic energy expended during phacoemulsification in order to minimize the number of complications, however, the existing methods are rather subjective and based mainly on biomicroscopy with visual assessment. Ultrasound constitutes a significant part of the methods of studying the lens. There are methods for determining the density of the lens using A-scan (one-dimensional image) and B-scan (two-dimensional image). Basically, these techniques provide information on acoustic density, but not on mechanical hardness. Several studies have used a high frequency needle tranducer to determine the hardness of the lens. The authors believe that the combination of an ultrasound needle tranducer and a phacoemulcification probe for real-time feedback may provide better surgical efficiency. Ultrasound elastography, static and dynamic is used to assess the elastic properties of tissues in many areas of medicine. In ophthalmology, elastography is not used in general clinical practice, however, the density of the lens is assessed in vivo using compression elastography in some studies. Also, a number of researchers offer combined system of ultrasound elastography and OCT, called OCTelastography. It is assumed that OCT elastography can provide better spatial image resolution and faster acquisition rates. The literature review reveals summarized data on methods of studying the lens, its acoustic and mechanical density, using various ultrasound research techniques, including such poorly understood methods in ophthalmology as compression elastography and optical coherent elastography.
The presence of a balance between the production and outflow of intraocular fluid ensures stability of the level of intraocular pressure (IOP). To reduce IOP means to affect one of these variables. For many decades, transscleral technologies in the treatment of glaucoma were considered exclusively as traumatic cyclodestructive interventions that only affect the reduction of intraocular pressure (IOP). These methods have recently been considered as possible ways to influence uveoscleral outflow. This became possible due to the appearance of new lasers, the development of new modes of their operation, points of application in the projection of the pars plana of the ciliary body (for example, TRANS-scleral CFC in micro-pulse mode at λ = 810 µm and CFC using pulsed periodic laser radiation at λ = 1.56 µm). They have a gentler effect and, accordingly, cause fewer side effects and undesirable effects. This explains the increasing shift towards the use of transscleral technologies in the earlier stages of glaucoma, not only for end-stage painful glaucoma resistant to conventional treatment (so-called “last resort surgery”).
Optical coherence tomography (OCT) is a modern non-contact real-time imaging of anterior and posterior eye’s segments. Based on the principle of low-coherence interferometry, it provides the analysis of tissue structures. In this review, we discuss technical aspects of two different OCT platforms: Time-Domain OCT (TD-OCT), and Spectral-Domain (SD-OCT) with the use of Fourier transformation — Fourier-Domain (FD-OCT). Over the last several years, the development of OCT has increased the resolution of images by different ways of optical filtering. The usage of tunable swept laser instead of superluminescent diode in modern Swept-Source OCT (SS-OCT) provides the sufficient quality of image. Anterior segment OCT can detect the pathological changes in different ocular structures and may be a key tool for monitoring of their progression. In pterygium OCT shows the true extent of fibrovascular granulation tissue in stromal layers, whereas in keratitis it provides imaging of corneal infiltration. Frequently, OCT-pachymetry can be advantageous in the detection of subclinical keratectasias. In patients with bullous keratopathy OCT can help to distinguish corneal edema and fibrosis. The new era of OCT is characterized by application of this method in keratorefractive surgery. Microscope-mounted (portable) and microscopeintegrated OCT systems have been developed. During LASIK surgery intraoperative OCT (iOCT) helps to assess flap interface, measure flap and residual bed thickness. It is a useful tool to reveal the structural changes during corneal collagen crosslinking. At the beginning of keratoplasty, iOCT helps to determine the corneal thickness, extent and depth of opacity, Descemet membrane perforation. iOCT guides decision-making regarding keratoplasty modification, depth and diameter of trephination. Furthermore, a real-time visualization of ocular structures during keratoplasty decreases the frequency of intra- and postsurgical complications.
An important point in cataract surgery, especially in view of performing operations on an outpatient basis and increasing surgical activity, is the need to minimize trauma to the delicate structures of the anterior segment of the eyeball, reduce the likelihood and number of complications and obtain high functional results in the shortest possible time. Purpose of the study: to carry out a comparative assessment of the flowmetry indices dynamics in accordance with the calculation of the tolerant intraocular pressure (TIAP) in patients after femtolaser cataract extraction (FLEK) and ultrasound FEC. The study included 125 patients aged 50 to 60 years, who underwent surgery for cataracts. The patients were divided into two groups. Standard ultrasound PE was performed in patients of group 1, and FLEK in patients of group 2. All patients underwent a standard ophthalmological examination, as well as flowmetry, reflecting the state of the volumetric ocular blood flow (OVF), with the calculation of the tolerant intraocular pressure (TIОP) index, which serves to determine the individually-adequate ophthalmotonus and ocular blood flow. The study was carried out before the operation, after 1 day, on the 3rd, 7th days and 1 month after the operation. Analysis of the data indicates that both during phacosurgery by the method of traditional ultrasound PE and hybrid PE, a transient increase in IOP occurs, which is most pronounced on the 1st and 3rd day. With a transient increase in IOP, a decrease in the OVF indicator was noted, respectively, the calculated TIOP indicator also changed, but the excess was no more than 3–5 mm Hg.
Diabetic retinopathy (DR) is a socially significant disease with a steady tendency to increase, in which there is a high risk of disability due to persistent loss of vision. There are three main pathogenetically substantiated methods of DR treatment: laser coagulation of the retina; intravitreal injections of VEGF inhibitors, steroid drugs; vitreoretinal surgery. In the later stages of DR, vitrectomy is the main method of its complications treating, but there is no clear understanding of the timeliness of this operation. The analysis of the results of original research on this problem is carried out. It has been shown that with the advent of new instruments, modified vitrector, operating microscopes, viewing systems and vitreoretinal combines, vitrectomy led to a change in the paradigm of DR treatment. These advances have resulted in better surgical control and greater precision, while at the same time shorter surgical times and fewer surgical complications. There is a tendency to perform vitrectomy at earlier stages of DR, which has a pathogenetic rationale. This could be a leap forward in the treatment of DR as a preventive measure against the development of proliferative DR.
Purpose: to establish the tomographic parameters to predict the recurrent of macular edema due to retinal vein occlusion.
Patients and methods. This is a retrospective study of 54 patients (54 eyes) with macular edema, no more than 3 months old, who had recurrent of macular edema after 3 intravitreal injections of aflibercept. Standard ophthalmological examination, spectral optical coherence tomography, intravitreal injections of aflibercept according to instruction, and statistical analysis of the data were conducted.
Results. Recurrence of macular edema developed on average 6.3 ± 1.2 weeks after three injections of aflibercept. We identified of the most significant prognostic tomographic parameters affecting the recurrent of macular edema during intravitreal injections of aflibercept — central foveal thickness > 500 μm (OR 2.1, p = 0.01), the presence of serous retinal detachment (OR 5.1, p = 0.001), the presence of hyperreflective foci (OR 3.7, p = 0.03), alteration of external limiting membrane (OR 4.7, p = 0.01), disruption of the photoreceptor innersegment/outer segment junction (OR 3.4, p = 0.01), disruption of retinal pigment epithelium (OR 2.1, p = 0.02).
Conclusion: the recurrent of macular edema with retinal vein occlusion during antiangiogenic therapy depends on baseline tomographic parameters. Our results can be important in predicting the duration and effectiveness of antiangiogenic therapy in a particular patient at the beginning of the disease, which makes the approach to management more personalized, promising in economic, social and psychological aspects.
Literature data confirm the existence of different opinions about the nature of changes in intraocular pressure after cataract extraction. However, assessment of the risk factors significance for complications and prediction their occurrence in the postoperative period are still unresolved issues. Average statistical norm can still entail a persistent increase in IOP after cataract surgery.
Purpose: to study the frequency of persistent increase in IOP after cataract surgery with a statistically normal level of IOP depending on the ratio of the preoperative level of IOP with its individual norm.
Methods: The clinical study was based on the analysis of 69 phacoemulsifications and posterior chamber intraocular lens implantations with a preoperative IOP level within the average statistical norm (IOP <22 mm Hg). The determination of individual norm of IOP was carried out using flowmetry according to the original method developed at the Research Institution of Eye Diseases. All patients were divided into 3 group. Group 1 — 25 patients with IOP less than individual norm of IOP. Group 2 — 18 patients (21 eyes) with medically compensated IOP (less than individual norm of IOP ). Group 3 — 20 patients (22 eyes) with IOP more than individual norm of IOP.
Results. GROUP 1. The initial IOP value before surgery in group 1 averaged 15.7 ± 3.6, after a year a decrease in IOP was recorded in 15 eyes (57.7 %). In 11 eyes (42.3 %) IOP remained unchanged. However, IOP changes in this group were statistically insignificant (p > 0.5). GROUP 2. After a year decrease in IOP was recorded in 11 eyes (52.4 %). In 10 eyes (47.6 %) IOP remained unchanged. GROUP 3 The initial IOP level before surgery was on average 17.9 ± 1.4. One year later, a decrease in IOP was recorded in 6 eyes (40.9 %). In 8 eyes (22.7 %) IOP remained unchanged.
Conclusions. When planning cataract surgery the indicator of real compensation is the level of ophthalmotonus, which does not exceed the individual norm. IOP exceeding the individual norm indicates a high probability of a persistent increase in IOP after cataract surgery.
This literature review describes epithelial complications that occur after corneal collagen crosslinking. Currently, the standard, different variants of the transepithelial and accelerated protocols, as well as their combination, are used. Moreover, in most cases, there are problems and complications associated with de-epithelialization or with impact to the preserved epithelium, both with special substances that destroy tight connections between epithelial cells, and with UV radiation, which supplied with increased illumination intensity and in a shorter time. At the same time, the development of many new options for various modifications and protocols for the corneal collagen crosslinking in order to preserve the epithelium and, thereby, provide the comfort and safety for the patient, can lead to a vicious circle in the form of epithelial complications and a decrease in the effect of the procedure. Therefore, it is important to conduct more complete, standardized studies aimed at a comprehensive assessment of all aspects and parameters of the corneal crosslinking procedure.
Iatrogenic keratectasia is a corneal disease caused by refractive surgery, most frequently after laser in situ keratomileusis (LASIK) as a surgical correction of ametropia, and also after injuries, penetrating and lamellar keratoplasty. The following changes are noted in case of keratectasia after laser keratomileusis: an increase in keratometric indices in the central and lower parts of the cornea, a decrease in stromal thickness and a myopic shift in refraction, a progressive impairment of visual functions — a decrease in uncorrected visual acuity, monocular diplopia and an inability of spherocylindrical correction. A thin corneal bed or small residual stromal thickness, re-surgery LASIK in anamnesis, and also the initial preoperative features of the corneal topogram (Irregularity, asymmetric bow tie pattern) are considered to be the main risk factors of keratectasia after LASIK surgery.
Methods. A patient with secondary keratectasia who had previously undergone LASIK and crosslinking was found to have progressive secondary keratectasia and decreased visual functions. An individual allograft was implanted (the form of a Landolt ring, 300 µm, at a depth of 290 µm) using the technology of bandage keratoplasty. Cutting transportat graft and tunnels for implantation were produced with the help of femtosecond laser. The data of visometry and keratotopography were evaluated.
Results. As a result of the formation of the bandage, the functions of the eyes improved, and ectasia did not progress for 6 months. Visual acuity increased from 0.15 to 0.66, the average value of keratometry was 40.35 diopters, with the initial 44.8 diopters. The minimal corneal thickness remained at 440 µm.
Conclusion. The proposed surgical technology BLOK allows to get an effective result in case of keratectasia after LASIK, which is manifested in improving visual functions, strengthening the cornea and normalizing its surface, as well as provides reduction of the further progression of keratectasia.
Leber’s hereditary optic neuropathy (LHON) is a maternal inherited mitochondrial disease characterized by bilateral vision loss in working age population. Although this pathology affects the retinal ganglion cells, the main manifestation of the disease is visual loss, the disease in some cases can occur as LHON+ with additional neurological and cardiological symptoms. This article presents a clinical case of a 42-year-old female patient with central vision loss and neurological symptoms. In addition to visual impairments, the patient notes numbness of the feet and shins, which have progressed over time, periodic tremor of the hands, weakness in the legs. Since 2013, the patient has been observed by a neurologist with suspected multiple sclerosis, demyelinating optic neuritis, and therefore received treatment, including corticosteroid therapy, which did not give a positive result. The patient underwent a standard ophthalmological examination, optical coherence tomography (OCT) of the retina and optic nerve, and computer perimetry. The additional survey data were non-specific in nature. Taking into account the patient’s complaints, anamnesis of the disease, the data of the research methods, as well as the potential possibility of combining LHON with neurological symptoms, three years later the hereditary nature of the disease was suspected. Using MLPA (Multiplex Ligation-dependent Probe Amplification) and direct automatic sequencing, the patient was tested for frequent LHON mutations. Mutation m.11778 G>A was detected. In clinical practice, it is necessary to keep in mind the existence of patients with LHON in combination with neurological symptoms, both of them can manifest before and after vision acuity decline which could lead to misdiagnosis and, as a result, incorrectly prescribed treatment. The combination of symptoms of vision loss with the characteristic features of hereditary optical neuropathy in combination with neurological symptoms should encourage clinicians to prescribe a genetic analysis of patients for LHON mutations.
ISSN 2500-0845 (Online)