Saratov JOURNAL of Medical and Scientific Research

2018, volume 14

Rod-cone dystrophy with mutation in GUCY2D gene (clinical case)

Year: 2018, volume 14 Issue: №4 Pages: 928-931
Heading: Ophtalmology Article type: Case report
Authors: Zolnikova I.V., Kadyshev V.V., Zinchenko R.A., Egorova I.V.
Organization: Moscow Helmholtz Research Institute of Eye Diseases, Research Centre for Medical Genetics
Summary:

The cinical case of rod-cone dystrophy (retinitis pigmentosa sine pigmento) in a patient with mutation in GUCY2D gene is described Mutations in GUCY2D gene are the common cause of Leber Congenital Amaurosis (LCA1, OMIM 204000), central areolarchoroidal dystrophy (CACD1 OMIM 215500), mutations in heterozygous, compound heterozygous and homozygous state are described in cone dystrophy CORD6 (OMIM 601777), but have not been described in rod-cone dystrophy. In patient who complained of nictalopia decrease of the best corrected visual acuity to 0.7 OD and 0.9 OS was revealed. Maximal electroretinogram was subnormal, which indicated decrease in the function of peripheral retina. 30 Hz flicker and macular ERG were within normal range. Not described previously as pathogenic variant of nucleotide sequence in exon 11 of GUCY2D gene (chrl 7:7916486G>A), causing missense mutation (p. Gly727Ser, NM_000180.3) in heterozygous state in patient was revealed. Thus we are first to describe genotype-phenotype associations of rod-cone degeneration with mentioned above pathological in GUCY2D gene.

Keywords: electroretinogram, genotype-phenotype relationship, GUCY2D, rod-cone dystrophy

Oculomotor abnormalities in Huntington's disease patients and premanifest gene carriers

Year: 2018, volume 14 Issue: №4 Pages: 922-928
Heading: Ophtalmology Article type: Original article
Authors: Svetozarskiy S.N., Kopishinskaya S.V., Smetankin I.G.
Organization: Privolzhskiy Research Medical University, Volga District Medical Center of FMBA
Summary:

Purpose: to establish oculomotor features in manifest Huntington's disease (HD) patients and premanifest gene carriers compared with controls. Material and Methods. The study involved 23 manifest HD patients, 21 premanifest gene carriers and 31 healthy volunteers. Binocular vision was evaluated using the four-point test. Direct and indirect pupil light reaction, convergence and accommodation response, head position, eye mobility and deviation were assessed. Slow eye movements, saccades and convergence were assessed. The criterion for clinical convergence insufficiency was defined as the near point of convergence of more than 5 cm. Patients from the target groups underwent DNA testing with an estimation of the CAG-repeats (cytosine-adenine-guanine) length in the huntingtin gene, an examination on the UHDRS motor scale (Unified Huntington's Disease Rating Scale) and had the duration of their disease determined. Results. The study showed that slow eye movements, initiation, speed and volume of saccades are disturbed in more than a half of manifest HD group. A high frequency (33%) of vertical slow eye movements disturbances was revealed in the premanifest HD group. Convergence insufficiency was found in manifest patients and HD carriers significantly more often than in the control group (p<0.001). Convergent eye movements were interrupted by uncontrolled saccades in 35% of manifest patients. A positive correlation was found between the distance to the near point of convergence and the UHDRS motor score, as well as with the number of CAG repeats. Conclusion. The study added new insights to the well-known picture of oculomotor disturbances in manifest HD patients, especially considering convergence characteristic. The leading symptoms of oculomotor abnormalities in premanifest HD carriers were identified. To designate the discussed complex of symptoms, a descriptive term "hyperkinetic oculomotor disorder" was proposed.

Keywords: convergence, Huntington's disease, neuroophthalmology, oculomotor disorders, saccades

The thermal safety of system for ultrasonic aspiration of lens cortex

Year: 2018, volume 14 Issue: №4 Pages: 919-922
Heading: Ophtalmology Article type: Original article
Authors: Idrisova G.M.
Organization: Bashkir State Medical University of the Russian Health Care
Summary:

The purpose of work is an experimental evaluation of the thermal safety of system for aspiration of lens cortex with the possibility of additional dosed low power ultrasonic. Material and Methods. The system for aspiration of cortex with the possibility of additional dosed low power ultrasonic consists of a specially designed ultrasonic instrument with a 21G tip and irrigation instrument with a 21G tip. Remote infrared thermometry (thermal imager Testo 882, Germany) was performed. In experiments a pig eyes were used (n=10). The eye was fixed in a titanium eye-holder, the tip of the ultrasonic instrument was inserted up through a 1.1 mm paracentesis on the meridian for 9 hours, the irrigation tip on the meridian for 3 hours. The initial temperature was recorded after irrigation and aspiration activation. Then ultrasound was activated (power 30%, activation time 10 s) and the final temperature was recorded. The rise in temperature was estimated as the difference between the final and initial temperatures. The software Testo IRSoft version 4.3 was used to process the images. Results. The average temperature rise in all experiment was 5.1±1.4°C. The maximum recorded temperature in the experiments were 33.5°C. Conclusion. Critical level of temperature for corneal burns was not reached in all of experiments. Conducted thermometric studies allow to conclude that the developed system for aspiration of lens cortex with the possibility of additional dosed low power ultrasonic is thermally safe.

Keywords: corneal burn, cortex, phacoemulsification, thermal safety, ultrasonic aspiration

Thermal imaging characteristics of ultrasonic and pneumatic guillotine 25 gauge vitrectors

Year: 2018, volume 14 Issue: №4 Pages: 916-919
Heading: Ophtalmology Article type: Original article
Authors: Aznabaev В.М., Dibaev T.N., Mukhamadeev T.R., Vafiev A.S., Shavaliev I.Kh.
Organization: Bashkir State Medical University of the Russian Health Care, ZAO Optimedservis
Summary:

Purpose: to analyze thermal characteristics of ultrasonic and pneumatic guillotine 25G vitrectors in the experiment. Materials and Methods. In vitro studies were performed using Testo 882 thermal imager under various conditions for a more complete assessment of thermal characteristics of 25G ultrasonic vitrector and 25G pneumatic guillotine vitrector. First experiment was carried out in normal saline solution of room temperature, second experiment was performed in air medium. Results. It was found that during operation of ultrasonic and pneumatic guillotine vitrectors, the temperature threshold of 45°C, which is critical for thermal damage to retinal tissue, was not reached in all experiments. Under severe conditions (working in the air medium without cooling of vitrector tip), different localization of the heating zone in ultrasonic (at proximal part of the needle) and pneumatic (at distal part, near the port) vitrectors was detected. Conclusion. In experimental conditions, the thermal safety of ultrasonic and pneumatic guillotine vitrectors of caliber 25G has been proved by the method of infrared thermal imaging.

Keywords: thermometry, ultrasonic vitrectomy,, vitrectomy, vitrector

The use of innovational computed method of color vision testing in clinical practice

Year: 2018, volume 14 Issue: №4 Pages: 913-916
Heading: Ophtalmology Article type: Original article
Authors: Bilalov E.N., Ziyoviddinov М.К., Bilalov B.E.
Organization: Tashkent Medical Academy
Summary:

The aim of study: to test created method of computed investigation of color vision with «TM A Computed color test» soft system. Materials and Methods. There was conducted comparative analysis of efficiency of computer program with conventional Rabkin's plates. Testing was conducted during entrance committee of Tashkent medical academy. During this period 3000 entrants were examined. Results. Measuring of basic physical color characteristic's shown that color characteristic's of monitor screen during test in «TMA Computed color test» are almost similar to those in Rabkin's plates, among 3000 entrants there were diagnosed 96 patients with color anomalies. Conclusion. It shown, that created method has a high efficiency in revealing of color anomalies during mass medical examinations and could be used in clinical practice.

Keywords: color anomaly, color vision, pseudoisochromatic plate tests, Rabkin's plates

Autonomous device for registration of direct current potential of eye in experiment and clinic

Year: 2018, volume 14 Issue: №4 Pages: 910-913
Heading: Ophtalmology Article type: Author's opinion
Authors: Mukhamadeev T.R., Yamgutdinov R.R., Vafiev A.S., Kalmetyev A.Kh., Yamlikhanov A.G., Tumashinov V.N.
Organization: Bashkir State Medical University of the Russian Health Care, ZAO Optimedservis
Summary:

 The article presents an autonomous device for recording of direct current potential of eye at rest and at different illumination levels to assess the functional state of the photoreceptor— retinal pigment epithelium complex in experiments on laboratory animals and in clinical practice including vitreoretinal surgery.

Keywords: bioenhancer, direct current potential of eye, electrooculography, retina, retinal pigment epithelium

Light-induced total electrical activity of retina in models of particular disorders in vivo and in vitro

Year: 2018, volume 14 Issue: №4 Pages: 903-909
Heading: Ophtalmology Article type: Original article
Authors: Mukhamadeev T.R., Ahmadeev R.R.
Organization: Bashkir State Medical University of the Russian Health Care
Summary:

Aim: to conduct an electrophysiological study of functional state of retina under the influence of ophthalmological surgical and typical pathogenic factors on various experimental models. Material and Methods. Experimental registration of electroretinogram (ERG) and total receptor potential (TRP) in vivo and in vitro under influence of various pathogenic factors. Results. It was shown that there is a slight decrease in the amplitude of the ERG in the early postoperative period after vitreoretinal surgery in rabbits followed by almost complete restoration of the electroretinogram to its original values. Registration of electrical activity of isolated retina of amphibians showed a rapid inhibition of a-, b- and d-waves of ERG during anoxia and their recovery during re-oxygenation. TRP inhibition during anoxia is developed more slowly than ERG inhibition, but its recovery does not occur during re-oxygenation. Preparations of isolated retinas with preserved pigment epithelium were much more resistant to oxygen deficiency. The results are discussed from a neurophysiological point of view and are consistent with the paradigm of retinal remodeling in experimental pathology with the leading role of neural mechanisms. Conclusion. The most adequate and effective methodological approach to assess the impact of typical and specific pathogenetic factors on the overall functional state of the retina is to register the total electrical activity of the retina in models in vivo. Studies of more subtle changes at the receptor, neuronal and interneuronal levels under the influence of various extreme factors on the retina are more expedient to carry out on in vitro models with registration of both total and local activity.

Keywords: anoxia, electroretinogram, vitreoretinal surgery

Ретроспективный анализ биометрических характеристик и локализации увеальной меланомы по данным ультразвукового дуплексного сканирования орбиты

Year: 2018, volume 14 Issue: №4 Pages: 900-902
Heading: Ophtalmology Article type: Original article
Authors: Азнабаев Б.М., Александров А.А., Ишбулатова A.M.
Organization: Bashkir State Medical University of the Russian Health Care
Summary:

Цель: провести ретроспективный анализ биометрических характеристик и локализации увеальной меланомы по данным ультразвукового дуплексного сканирования орбиты. Материал и методы. В Центре лазерного восстановления зрения «Оптимед» г. Уфы за 2017-2018 гг. исследованы 22 пациента с объемным образованием сосудистой оболочки глаза — меланомой. Соотношение больных мужчин и женщин 1:1 (11 мужчин и 11 женщин). Возраст обследованных пациентов варьировался от 46 до 89 лет. Результаты. По данным проведенных ультразвуковых дуплексных сканирований орбиты чаще отмечалась парамакулярная локализация опухоли (72,2%). Высота проминенции объемных образований в среднем составила 7,6±4,6 мм, ширина основания 10,1±4,1 мм. У 20 пациентов (90,9%) определялся кровоток над объемным образованием. В 54,5% случаев наблюдалась вторичная отслойка сетчатки. Заключение. Ультразвуковое дуплексное сканирование орбиты является информативным неинвазивным инструментально-диагностическим методом, позволяющим выявлять увеальную меланому на ранней стадии.

Keywords: ophthalmooncology, ultrasonic duplex orbit scanning, Uveal melanoma

Comparison of uveal melanoma molecular classification systems

Year: 2018, volume 14 Issue: №4 Pages: 898-890
Heading: Ophtalmology Article type: Original article
Authors: Yarovoy А.А., Yarovaya V.A., Chudakova L.V., Chochaeva A.M., Loginov R.A., Kleyankina S.S., Zaretsky A.R.
Organization: Evrogen Laboratory LLC, The S. Fyodorov Eye Microsurgery Federal State Institution
Summary:

Purpose: to compare cytogenetic and mutational classifications of uveal melanoma (UM) in comprehensive analysis. Material and Methods. UM tissue from 154 eyes treated by enucleation or eye-sparing treatment was analyzed. Analysis included FISH for monosomy 3 and 8q gain, PCR for GNAQ, GNA11, EIF1AX and SF3B1 mutations and immunohistochemistry for BAP1. The group of 66 patients was used to compare cytogenetic and mutational classifications of uveal melanoma. Results. Discrepancy between cytogenetic and mutational classifications was revealed in 79% of cases. Unusual combination of EIF1 AX mutation with monosomy 3 or BAP1 inactivation was seen. Conclusion. Prognostic significance of the discrepancy between the two UM classifications is currently unknown. Further research is needed.

Keywords: fine needle aspiration biopsy, genetic testing, mutations, prognostic biopsy, Uveal melanoma

Analysis of the structure of oncological diseases of the eye, ad-nexa and orbit (according to the data of 2nd ophthalmological department of the Orenburg Regional Clinical Hospital No.1)

Year: 2018, volume 14 Issue: №4 Pages: 894-897
Heading: Ophtalmology Article type: Original article
Authors: Aprelev А.Е., Abdulgazizova Z.F., Zakirova I.I., Aprelev А.А.
Organization: Orenburg State Medical University
Summary:

Purpose: to analyze incidence of neoplasms of the eye, ocular adnexa and orbit of the inhabitants of the Orenburg region in 2017 Material and Methods. The article presents an analysis of archival material from 123 case histories in patients with neoplasms of the eye and its adnexal apparatus, who were treated in 2nd Ophthalmology Department of the State Budgetary Health Institution "OOKB No.1". The case histories were analyzed consecutively. Results. Data on the prevalence (63.4%) of malignant neoplasms of the eye in women of retirement age were obtained. According to pathology, eyelid basalioma was most common — 67.3% followed by choroid melanoma — 23.6%. The localization frequency of neoplasms is as follows: malignant neoplasm of the conjunctiva 4.4%, benign neoplasm of the conjunctiva 12.9%, malignant neoplasms of the eyelid skin, including eyelids commissure 56.5%, benign neoplasms of the eyelid skin, including eyelids commissure 31.5%, choroid malignant neoplasms 30.4%, benign choroid neoplasms 3.7%, benign neoplasms of cornea 9.3%, malignant orbital tumors 8.7%, benign tumors of the orbit 42.6%. Conclusion. Women of retirement age need to be screened for malignant eye tumors.

Keywords: adnexa, eye, oncology, orbit