[Ocular manifestations of Marfan syndrome]. / Glaznye proyavleniya sindroma Marfana.

Marfan syndrome is an orphan disease that is caused by a mutation in the FBN1 gene located on chromosome 15 (15q21.1) and is usually inherited in an autosomal dominant manner. The article reviews the results of studies concerning the potential ocular manifestations of Marfan syndrome.

[Ocular ischemic changes in thrombotic microangiopathy associated with malignant arterial hypertension (case study)]. / Ishemicheskie izmeneniya glaza pri tromboticheskoi mikroangiopatii, assotsiirovannoi so zlokachestvennoi arterial'noi gipertenziei (klinicheskoe nablyudenie).

The article presents a clinical observation of visual organ damage as an extrarenal manifestation of thrombotic microangiopathy in malignant arterial hypertension with an analysis of structural and functional changes in the eye by modern examination methods. The presence of renal thrombotic microangiopathy was verified by kidney biopsy. Optical coherence tomography was used to determine structural changes in the inner and outer layers of the retina in the form of their disorganization, areas of thickening of the nerve fiber layer, intraretinal inclusions and cysts, alterations of the ellipsoid zone and retinal pigment epithelium. Optical coherence tomography angiography revealed areas of vascular pattern attenuation in the deep and superficial retinal plexuses corresponding to OCT-detected foci of disorganization of the inner retinal layers. Color Doppler imaging showed absence of the diastolic component of the Doppler spectrum with an increase in the peripheral resistance index RI up to 1.0 in the central retinal artery and posterior short ciliary arteries in both eyes. Functional changes observed with multifocal electroretinography and microperimetry corresponded to the structural changes. Taking into account the similarity of microcirculation in the kidneys and the eyes, the probable pathogenetic mechanism underlying the detected structural and functional symptoms of ischemic damage to the visual organ in malignant arterial hypertension is chronic thrombotic microangiopathy. An interdisciplinary approach to studying thrombotic microangiopathy, including those associated with malignant arterial hypertension, using high-tech examination methods can be useful for timely diagnosis and treatment of this pathology.

[Scanning electron microscopy results of the vitreous body in asteroid hyalosis]. / Rezul'taty skaniruyushchei elektronnoi mikroskopii steklovidnogo tela pri asteroidnom gialoze.

PURPOSE: To evaluate the structure of vitreous body in asteroid hyalosis by low vacuum scanning electron microscopy. MATERIAL AND METHODS: The material of the study was samples of the vitreous body obtained from 7 patients aged from 62 to 72 years with vitreomacular traction syndrome during vitrectomy. In all cases, clinical manifestations of asteroid hyalosis (the presence of multiple point-like echo-positive inclusions) were identified during the preoperative examination. Samples for scanning electron microscopy and chemical microanalysis were prepared without using fixation elements, total dehydration, staining or centrifugation, and according to the so-called principle of bougienage, which consists in partial separation of fractions of the gel-like tissue with a stream of saline. RESULTS: The conducted examinations made it possible to identify various types of local accumulations of mineral elements in the vitreous body in asteroid hyalosis - called asteroid bodies - that is, multiple complex rounded formations consisting of needle-shaped crystals of a radial fibrous structure. CONCLUSION: The developed algorithm, which includes intraoperative sampling of the vitreous body in conditions of its minimal hydration and a special technique for preparing samples for scanning electron microscopy and chemical microanalysis, provides the capability for the in vivo assessment of morphological changes in hyaloid elements of the vitreous body. With that, asteroid bodies can be considered as markers of the vitreous structures that are difficult to visualize.

[Structural features of the vitreous body in asteroid hyalosis]. / Osobennosti struktury steklovidnogo tela pri asteroidnom gialoze.

PURPOSE: To analyze intravital structure of the vitreous body in asteroid hyalosis using digital ultrasound imaging. MATERIAL AND METHODS: The study included 64 patients (128 eyes) aged 62 to 73 years with opacities in the vitreous body characterized as asteroid hyalosis. RESULTS: The macrostructure of the vitreous body was evaluated based on the results of digital ultrasound imaging. The analysis covered various types of ultrasound images of the inner projection of the eye and the vitreous cavity. The study demonstrates the possibility of in vivo evaluation of the integrity of vitreous tracts, and the vitreous body as a whole. CONCLUSION: Ocular ultrasound images of patients with asteroid hyalosis acquired in vivo were used to evaluate the macrostructure of the vitreous body and determine the features of spatial defects.

[Asteroid hyalosis]. / Asteroidnyi gialoz.

The article analyzes existing information on clinical and experimental studies of vitreous changes in asteroid hyalosis, historical aspects of how this condition was studied over the past hundred years, its occurrence and pathogenesis. Results of various studies were used to evaluate current understanding of the forms and elemental composition of phospholipid mineral sedimentation on vitreous structures and methods of its examination. The problem of intravital assessment of the condition of vitreous body was analyzed, and a method was suggested for studying the macrostructure of hyaloid tracts and the state of the vitreous body by means of digital ultrasound in patients with asteroid hyalosis.

[Clinical and morphological changes in the eye in Fabry's disease (a clinical case study)]. / Kliniko-morfologicheskie aspekty izmeneniia glaza pri bolezni Fabri (klinicheskii sluchai).

The article presents a clinical case of Fabry's disease accompanied by changes in the eye and gives detailed description of standard ophthalmological examination and results of some modern methods of assessing macro- and micro-structure of certain ocular tissues. Fabry's disease (also known as Anderson-Fabry disease, diffuse angiokeratoma of the body, hereditary dystonic lipidosis) is a progressive hereditary multi-systemic disease; more specifically, it is a progressive congenital defect in the metabolism of tissues of the human body. It is included in the list of orphan diseases. One of its local manifestations is development of dystrophic changes in the structure of the cornea with tendency to progress. Early diagnosis of Fabry's disease is crucial, but its extensive and 'mixed' symptoms often mask the true causes of pathological changes, which leads to late diagnosis.

[Acoustic analysis of the lacrimal gland in sarcoidosis]. / Akusticheskii analiz struktury sleznoi zhelezy pri sarkoidoze.

PURPOSE: To analyze the condition of the lacrimal gland in patients confirmed to have sarcoidosis. MATERIAL AND METHODS: The study included 46 patients (92 orbits) with verified diagnosis of systemic sarcoidosis that were examined during the period of 2009 to 2014. The age of patients ranged from 23 to 65 years and the average was 45.1 years. Among the examined patients, 66% were female and 34% male. In all patients, the diagnosis was verified according to modern criteria. RESULTS: Acoustic structure of 46 lacrimal glands of patients with systemic sarcoidosis (92 orbit), and lacrimal glands of 30 healthy individuals (60 orbits) were examined. In-depth in vivo examination of morphological changes was done using 'advanced' analysis of three-dimensional images. CONCLUSION: The analysis of a large number of studies devoted to changes in the lacrimal glands caused by sarcoidosis revealed a difficult problem: are there any differences between isolated involvement of the lacrimal gland tissue and the defeat of various organs and tissues? For now, the question remains unanswered.

[Three-dimensional acoustic analysis in diagnostics of structural and morphological changes of the eye in certain congenital pathologies]. / Mul'tiplanarnyi akusticheskii analiz v diagnostike strukturno-morfologicheskikh izmenenii glaza pri nekotorykh vidakh vrozhdennoi patologii.

Changes in ocular anatomy and topography that occur due to congenital development anomalies are often of complex, composite nature. Such pathologies are accompanied by not only refractive errors, but also changes in eye's macrostructure. Careful analysis of the changes is necessary to better understand the clinical picture. PURPOSE: To study the specifics of structural and morphological changes of the eye in certain ocular congenital pathologies and in some orphan diseases using the results of three-dimensional ultrasound analysis and digital acoustic imaging. MATERIAL AND METHODS: The study included 60 patients (119 eyes) with congenital ocular changes, some of which are registered as independent orphan diseases, as well as with systemic manifestations including congenital changes in eye membranes, lens and the vitreous body. The examination involved three-dimensional scanning followed by digital processing of the imaging data obtained using general medical ultrasound systems Voluson 730 Pro Kretz and Voluson E8. RESULTS: Digital ultrasound technologies significantly expand the scope of data on eye morphology in various congenital changes obtainable in vivo. CONCLUSION: The advantage of this investigation method is the possibility to reliably detect congenital spatially complex morphological deformations in the eye tissues, which in some cases are impossible to observe with other methods.

[Morphological features of clinical manifestations of particular congenital lens and vitreous anomalies]. / Morfologicheskie osobennosti klinicheskikh proiavleniĭ nekotorykh vidov vrozhdennykh anomaliĭ khrustalika i steklovidnogo tela.

The review covers general clinical features of particular congenital anomalies of the human eye associated with its abnormal embryonic development. Principal literature sources on evaluation of congenital changes in the vitreous body and identification of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed with account to general pathology of the human body as well as local morphological manifestations. Covered is the time period from the end of the XIX century to the present. According to the authors, their analysis helps justify the use of digital three-dimensional ultrasound examination for intravital evaluation of congenital changes in the lens and vitreous.

[Biometric parameters of vitrectomized eyes]. / Biometricheskie parametry avitreal'nykh glaz.

AIM: To analyze changes in various biometric parameters after vitrectomy. MATERIAL AND METHODS: A total of 50 patients (50 eyes) were followed up. All of them underwent vitrectomy for idiopathic epiretinal fibrosis and macular hole. In addition to the standard ophthalmic examination, we performed a combined ultrasound study and ultrasound biomicroscopy before and after the surgery (at 2-3 weeks and 6 months). Variation statistics was applied to assess the results using the SPSS Statistica 20 software. RESULTS: According to ultrasound biomicroscopy, the following parameters increased: anterior chamber depth, trabecular-ciliary process distance, posterior chamber maximal depth and volume, and fiber length within the zonule of Zinn. In the late postoperative period (6 months after the surgery), there was an increase in lens volume and anterior-posterior ocular axis by the average of 0.15±0.04 mm. Against this background, clinical refraction shifted toward myopia by the average of 0.68±0.05 diopters in the early postoperative period and 1.7±0.15 diopters at 6 months. CONCLUSION: With the help of modern ultrasound examinations we have identified biometric changes in the anterior segment of vitrectomized eyes. We have also established a myopic shift of clinical refraction, which is most likely to be due to the increase in axial eye length and lenticular changes.

[Embryological aspects of clinical presentations of congenital lens and vitreous anomalies]. / Émbriologicheskie aspekty klinicheskikh proiavlenii vrozhdennykh izmenenii khrustalika i steklovidnogo tela.

This report gives a general overview of embryological features of the human eye. Key literature sources published during the last century on evaluation of congenital changes in the vitreous body and identification of signs of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed in terms of general pathology of the human body as well as local morphological manifestations. According to the authors, such an approach justifies the need for comparison of clinical manifestations of congenital lens and vitreous changes with possible embryonic defects.

[Distortion of vitreous structure in eyes with lens dislocation].

AIM: to study the range of structural changes in the vitreous and to determine spatial position of the lens in case of its dislocation. MATERIAL AND METHODS: A total of 47 patients (94 eyes) with so-called senile cataract aged from 59 to 83 years were examined. The state of the vitreous was evaluated by means of digital ultrasound examination. RESULTS: Combined structural changes in the basis and cortex of the vitreous in eyes with lens and/or its elements dislocation have been analyzed. The possibility of lens evaluation in terms of its integrity and topography as well as spatial position of its elements has been shown. The relationship between the vitreous and lens changes has also been established. CONCLUSION: Digital ultrasound examination is capable of producing a 3D image of the eye, thus, allowing to assess spatial defects of the vitreous and to determine the position of the lens in case of its dislocation.

[Contribution of hemodynamic disturbances in magistral vessels to optic neuropathy progression and ocular tension changes in endocrine ophthalmopathy].

AIM: to investigate the contribution of various hemodynamic disturbances in magistral vessels to optic neuropathy (ON) progression and ocular tension changes in endocrine ophthalmopathy (EOP). MATERIAL AND METHODS: A total of 39 patients (78 eyes) with subclinical EOP (clinical activity score, CAS ≤ 2) associated with Graves' disease (n = 32, 64 eyes) or autoimmune thyroiditis (n = 7, 14 eyes) were examined. Orbit echography was performed in all patients. Blood flow was assessed with a Voluson 730 PRO ultrasound diagnostic system ("Kretz", Austria) in triplex mode (B-scan, color Doppler flow mapping in combination with pulse-wave Doppler). Thus obtained hemodynamic parameters in ophthalmic artery, central retinal artery (CRA), central retinal vein (CRV), short posterior ciliary arteries (SPCA), and long posterior ciliary arteries (LPCA) were analyzed. To reveal the role of hemodynamic disturbances in the above mentioned vessels in ON progression and eye pressure maintenance, the patients were divided into 7 groups. Only those eyes, whose peripheral indices were increased by more than 25% of normal values and diastolic blood flow decreased by not less than 25%, were selected for further study. Intraocular pressure changes were evaluated by group mean (Mmean = M ± m mmHg), optic neuropathy progression--by the difference in group mean depth (dB) and number of scotomas between the first and the last visit (6 months of observation). RESULTS: In almost all types of perfusion disturbances, the resultant chronic ocular ischemia causes a decrease in IOP. The only exception, as shown, is simultaneous involvement of CRA, SPCA, and LPCA. The level of blood flow disturbance determines the severity of qualitative and quantitative changes in eyes with EOP-associated ON. The rate of ON progression directly correlates with baseline IOP values on day zero. CONCLUSION: Long-lasting chronic impairment of blood supply of the eyeball leads to reduction in ocular tension and progression of optic neuropathy. Combined perfusion disturbances in CRA and LPCA as well as in CRA, LPCA, and SPCA can be considered a high-risk factor, while SPCA and/or LPCA involvement--a moderate-risk factor.

[Characteristic vitreous changes in congenital cataracts].

AIM: To analyze changes and identify specific signs of underdevelopment of the vitreous body in certain types of congenital cataracts. MATERIAL AND METHODS: A total of 26 patients (52 eyes) with congenital changes in the lens and vitreous were examined by means of digital spatial ultrasound imaging. RESULTS: On the basis of multiplanar ultrasound examination and three-dimensional virtual modelling of the eye, spatial ultrasonographic characteristics of combined congenital involvement of the lens and vitreous have been determined. The changes revealed are shown to be morphologically related. CONCLUSION: The results suggest three-dimensional digital ultrasound virtual modelling useful for studying combined congenital changes in the lens and vitreous and, thereby, it enables 'decoding' of some elements of their normal morphology.

[Effects of blood flow properties on ocular hemodynamics].

AIM: to study the effects of blood rheology on ocular blood flow (OBF) parameters and estimated individual normal range of intraocular pressure (IOP). MATERIAL AND METHODS: A total of 15 patients (15 eyes) taking warfarin were enrolled. Volumetric parameters and linear velocity of OBF under warfarin treatment and after its cessation were obtained by means of flowmetry (Paradigm's Blood Flow Analyzer) and color Doppler flow mapping (Voluson 730), respectively. On the basis of flowmetry results an individual normal range of IOP was calculated in all patients. RESULTS: Pulsatile OBF does not appear to correlate with warfarin-induced changes in blood rheology (p = 0.09), however, depends on IOP fluctuations (p = 0.02). Resistance index of retinal vessels is found to rise significantly with increasing blood viscosity (p < 0.05). CONCLUSION: The use of warfarin, an indirect thrombin inhibitor, has no effect on estimated individual normal range of IOP, which is crucial for glaucoma diagnosis and monitoring.

[Ocular blood flow and carotid artery malfunction].

AIM: to evaluate ocular hemodynamics and informativity of estimated individual normal range of intraocular pressure (IOP). MATERIALS AND METHODS: A total of 12 patients (22 eyes) with carotid artery malfunction were examined. Ocular blood flow (OBF) and IOP were measured with Ocular Blood Flow Analyzer. Actual OBF was then compared with what is considered normal for a given axial length (AL). Individual normal range of IOP was calculated according to an original formula (described in previous publications). Doppler imaging of ocular vessels enabled blood flow velocity measurement. Morphological parameters and functional status of the retina and optic nerve were judged on automated perimetry (Octopus 900) and optical coherence tomography (Cirrus HD-OCT) findings. Statistical analyses were performed using Statistica 10 software. RESULTS: Generally, OBF showed no correlation with the grade of carotid artery stenosis (p < 0.05), however, was significantly reduced as compared to its AL-dependent norm in patients with greater than 85% narrowing of the internal carotid artery, which can cause misestimating of their individual normal range of IOP. A negative relationship was established between the blood flow velocity in short posterior ciliary arteries and the grade of internal carotid artery stenosis (p < 0.005). Ocular blood flow deficit relative to the AL-dependent norm correlated with ophthalmic artery resistance index. CONCLUSION: OBF-based estimation of individual normal range of IOP is inexpedient in patients with greater than 80% carotid artery stenosis due to its possible influence on ocular hemodynamics. In most cases of less than 80% carotid artery stenosis OBF is adequate or slightly reduced as compared to its AL-dependent norm and thus, has no significant impact on estimated individual normal range of IOP.

[Artisan iris-claw IOL implantation in cases of bilateral lens luxation into the vitreous body].

A clinical case of bilateral retropupillary implantation of iris-fixated lenses (Worst iris-claw intraocular lenses) in a patient with bilateral complete native lens dislocation into the vitreous body is presented. Despite native lens in the vitreous, the patient did not develop ocular hypertension in either eye after the surgery during a long-term follow-up period. Visual acuity significantly improved and there was no necessity in removing the dislocated lenses.

[Giant cavernous hemangioma of the orbit (case report)].

The following case demonstrates a successful en bloc removal of a massive cavernous hemangioma of the orbit via vertical transpalpebral approach with postoperative improvement of optic nerve condition and optimal cosmetic result.

[Differentiation of concomitant glaucomatous optic neuropathy in optic disc drusen].

Characteristics of ocular blood flow (OBF) in primary open-angle glaucoma (POAG) in eyes with optic disc drusen have been investigated. The study enrolled 21 patient (35 eyes) with optic disc drusen, of which 7 (8 eyes) were diagnosed with POAG. Besides the standard tests, the ophthalmological assessment included evaluation of OBF (flowmetry) and an individual normal range of intraocular pressure (IOP). The results showed that optic disc drusen are not associated with OBF changes. Concomitant POAG might be suspected in a patient with optic disc drusen whose OBF is significantly decreased and IOP is above the individual normal range. Differentiation of morphofunctional changes in chronic optic neuropathy, which might be due to either glaucomatous optic neuropathy or optic disc drusen, is complicated when actual IOP lies within the average normal range. Ocular blood flow evaluation by means of flowmetry with calculation of an individual normal range of IOP has been demonstrated as a highly effective predictor of concomitant POAG in patients with optic disc drusen.

[Basics of spatial diagnostic acoustic analysis of ocular and orbital tissues by the example of a study on local changes in systemic sarcoidosis].

The study enrolled 39 patients (78 orbits) with verified sarcoidosis. Acoustic analysis of pathological changes in ocular and orbital tissues was performed in all cases. A new evaluation method based on a combination of different modes of digital ultrasound techniques has been proposed. New data on intravital changes in sarcoidosis has been obtained. Formerly unknown deformities of acoustic images of the globe, lacrimal gland, vitreous, optic nerve, and ophthalmic artery, that could be recommended to ophthalmologists and other specialists studying sarcoidosis, have been identified.