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1. First results of long-term follow-up of children in Russia after gene therapy for hereditary retinal dystrophies associated with biallelic mutations in the RPE65 gene

Author

V. V. Neroev, L. A. Katargina, M. P. Kharlampidi, L. V. Kogoleva, I. V. Zolnikova, P. A. Ilyukhin, E. V. Denisova, S. V. Milash, N. A. Osipova, S. I. Kutsev, A. V. Polyakov, R. A. Zinchenko, V. V. Kadyshev, and Yu. A. Bobrovskaya

Subjects
inherited retinal dystrophies, gene therapy, rpe65, voretigen neparvovec, luxturna, leber congenital amaurosis, retinitis pigmentosa, genetics, ophthalmology, Ophthalmology, RE1-994
Abstract

Purpose: to evaluate the results of gene therapy by the recombinant adeno-associated viral vector voretigene neparvovec (VN) in children with follow-up periods of 1, 3, 6, and 12 months.Material and methods. The study included 6 children (12 eyes) aged 5 to 15 with a confirmed biallelic mutation in the RPE65 gene, treated with VN (Luxturna, USA). Treatment efficacy was assessed by surveying which included questions on spatial orientation under various types of illumination, Goldman perimetry, microperimetry, best corrected visual acuity (BCVA), electroretinogram (ERG), and visual evoked potentials (VEP). To assess the structure of the retina, the central retinal thickness (CRT) was evaluated by optical coherence tomography.Results. All children showed subjective changes in visual perception, including improved orientation in the dark and twilight, and improved contrast. In one case, the child with initially low visual acuity showed improved visual fixation. In 4 patients out of 6 (8 eyes), an expansion of the visual fields was noted, including 2 cases who displayed significant expansion thereof. In 2 patients (4 eyes), the visual fields were not narrowed and remained so throughout the entire observation period. Mean light sensitivity of the retina in 3 patients and fixation indices in 1 patient improved significantly as shown by microperimetry. BCVA remained stable throughout the study or changed insignificantly. Initially, ERG could not be detected in 8 eyes, but after an VN injection, 6 eyes demonstrated a partial recovery at different times — from 1 to 12 months. An increase in the amplitude of the P1 component to pattern VEP and P2 component to flash VEP was observed in all patients, which indicates an enhanced activity in the projection of the visual cortex after the restoration of the visual cycle. No significant changes were revealed in CRT (p = 0.9). Complications and adverse events were noted in 9 eyes (75 %): chorioretinal dystrophy at the injection site in 3 patients (5 eyes), multifocal nummular dystrophy in 2 patients (4 eyes), local episcleritis in 1 eye, transient increase in intraocular pressure in 2 patients (3 eyes).Conclusion. The results of a one-year post VN treatment follow-up of Russian patients with RPE65-associated inherited retinal disease demonstrate stabilization and improvement of visual functions, which is especially important for otherwise incurable patients with a progressive course of the disease.

Published
2023
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2. Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population

Author

I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, A. B. Chernyak, S. V. Milash, Yu. A. Bobrovskaya, N. A. Urakova, N. Sh. Kokoeva, S. I. Kutsev, and R. A. Zinchenko

Subjects
stargardt’s disease, retinitis pigmentosa, abca4, genetics, electroretinography, optical coherence tomography, autofluorescence, dna diagnostics, mutations, clinical polymorphism, Ophthalmology, RE1-994
Abstract

Aim: to study genotype-phenotype correlations in patients with inherited retinal diseases with mutations in ABCA4 gene in Russian Federation.Patients and methods. 21 patients from Russian population aged from 7 to 51 years old (mean age 20 ± 11 years with best-corrected visual acuity from 0,02 to 0,6 (0,14 ± 0,11) with ABCA4-associated retinopathy, verified by molecular genetics methods. All patients besides standard ophthalmic examination and photodocumentation were performed Spectral-Domain OCT and fundus autofluorescence on Spectralis ®HRA+OCT (Heidelberg Engineering, Germany). Full-field electroretinogram (ERG), 30-Hz flicker ERG and macular chromatic ERG (MERG) to red stimulus were recorded on electroretinographic system MBN (MBN, Russia). (Russia) Molecular genetic studies were performed using Next Generation Sequencing (NGS) and Sandger direct sequencing. Results: In ABCA4-associated Stargardt disease 1 type (STGD1) genotype [p.L541P, p.A1038V] of «frequent» mutations was revealed in 9 patients, in 2 cases in was associated another “frequent” mutation p.G1961E. In 4 patients with genotype [p.L541P, p.A1038V] “severe” phenotype of Stargardt disease was found: with large defect of the ellipsoid zone and large zone of central reduced autofluorescence, severely subnormal macular ERG (MERG) to red stimulus and subnormal 30 Hz flicker and full-field maximal ERG. In one patient with these mutations in homozygous state ABCA4-associated cone-rod dystrophy (CORD3, clinically looking alike secondary retinal dystrophy is diagnosed. In 2 patients with genotype [p.L541P, p.A1038V] and mutation p.G1961E was found mild phenotype. One patient with homozygous mutation p.R653C autosomal recessive ABCA4-associated retinitis pigmentosa (RP19) was diagnosed. Clinical picture and autofluorescence were polymorphic in all patients.Conclusions. Our study with ophthalmological, molecular genetics and instrumental methods widens the spectrum of clinical signs of inherited eye diseases associated with mutations in АВСА4 gene, widens the spectrum mutations in Russian Federation and reveals clinicо-genetic genotype-phenotype correlations.

Published
2021
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3. [Fundus albipunctatus with mutations in the RDH5 gene (clinical case)]

Author

S.Yu. Rogova, A.B. Cherniak, N.S. Kokoeva, S. V. Milash, L. V Kogoleva, Yu. A Bobrovskaya, A. V. Marakhonov, I.V. Zolnikova, I.V. Egorova, Rena A. Zinchenko, and V. V. Kadyshev

Subjects
medicine.medical_specialty, genetic structures, Adolescent, Nyctalopia, Exon, chemistry.chemical_compound, Retinal Diseases, Night Blindness, Ophthalmology, medicine, Electroretinography, Humans, Scotopic vision, medicine.diagnostic_test, business.industry, Retinal, Photoreceptor outer segment, eye diseases, Alcohol Oxidoreductases, chemistry, Mutation, sense organs, medicine.symptom, business, Erg, Tomography, Optical Coherence, Photopic vision
Abstract

The article describes a clinical case of a 14-year old patient with RDH5 mutations (OMIM *601617) in patient with fundus albipunctatus (OMIM #136880) and characteristic biomarkers of this disease with previously described pathogenic variant of nucleotic sequence in exon 3 of the RDH5 gene (NM_002905.3:c.500GA), causing a missense change (p.Arg167His) in heterozygous state and previously not described pathogenic variant of nucleotic sequence in exon 5 of the RDH5 gene (NM_002905.3:c.838CT), leading to a missense change (p.Arg280Cys) in heterozygous state with characteristic biomarkers of the disease. Best-corrected visual acuity (BCVA) was 20/20. Nyctalopia was accompanied by reduced b-wave of scotopic (dark-adapted 0.01) ERG and decreased amplitude of a- and b-waves of maximum (dark-adapted 3) ERG. Decreased amplitude of the a- and b-waves of photopic (light-adapted 3) ERG and the amplitude of high-frequency (light-adapted 30 Hz) Flicker ERG shows the involvement of retinal cone system in the process. Fundus autofluorescence imaging of both eyes produced fuzzy and grainy images with slight hyperfluorescence of retinal flecks. Optical coherence tomography showed focal thickening centered in the photoreceptor outer segment corresponding to the multiple discrete albipunctate dots.В статье описывается клинический случай белоточечного глазного дна (fundus albipunctatus, OMIM #136880) с мутациями в гене RDH5 (OMIM *601617) в 3-м экзоне гена RDH5 (NM_002905.3:c.500GA), приводящий к образованию миссенс-замены (p.Arg167His) в гетерозиготном состоянии и не описанный ранее как патогенный вариант нуклеотидной последовательности в 5-м экзоне гена RDH5 (NM_002905.3:c.838CT), приводящий к образованию миссенс-замены (p.Arg280Cys) в гетерозиготном состоянии с характерными биомаркерами этого заболевания у пациента 14 лет. Острота зрения с коррекцией составила OU 1,0. Жалобы на ухудшение зрения в темноте сопровождались снижением амплитуды b-волны скотопической электроретинографии (ЭРГ) и a- и b-волн максимальной ЭРГ. Снижение амплитуды a- и b-волн фотопической ЭРГ и амплитуды высокочастотной ритмической ЭРГ на 30 Гц свидетельствовало о вовлечении в процесс колбочковой системы сетчатки. На аутофлюоресцентных изображениях глазного дна визуализировались нечеткие, зернистые, слегка гиперфлюоресцирующие очажки. На изображениях, полученных при оптической когерентной томографии, визуализировались фокальные утолщения с центром в наружных сегментах фоторецепторов, соответствующие множественным дискретным белоточечным пятнам.

Published
2021

4. The influence of the central corneal thickness on the characteristics of the ophthalmic tone in the children presenting with congenital microphthalmia

Author

Yu. A Bobrovskaya, T. V Sudovskaya, Ya. O Veklich, N. Sh Kokoeva, and A. A Makarova

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, genetic structures, business.industry, Energy Engineering and Power Technology, medicine.disease, Tone (literature), Microphthalmia, eye diseases, Fuel Technology, Ophthalmology, medicine, sense organs, business
Abstract

Objective. To evaluate the influence of the central corneal thickness on the characteristics of the ophthalmic tone in the children presenting with congenital microphthalmia of different severity and to describe its clinical significance for diagnostics of glaucoma and prescription of hypotensive therapy. Materials and methods. A total of 40 children (80 eyes) at the age from 5 to 17 years presenting with congenital microphthalmia of different severity were available for the examination. The children remained under the examination during 10 and more years. They were divided into three groups in terms of severity of microphthalmia. Thirteen children were admitted with the diagnosis of “glaucoma”. The comprehensive ophthalmological examination was supplemented by the measurement of the central corneal thickness. Results. The analysis of the results of the examination gave evidence of the increased central corneal thickness in all the patients with grade 1 - III microphthalmia included in the study. The measurement of the central corneal thickness is important for the establishment of the diagnosis of “glaucoma” because it exerts the direct influence on the characteristics of the ophthalmic tone in the children presenting with congenital microphthalmia. Conclusion. The present study has demonstrated the fairly well apparent relationship between the central corneal thickness, the severity of microphthalmia and intraocular pressure (IOP) in the children presenting with congenital microphthalmia. The higher the severity of microphthalmia the greater the central corneal thickness and the intraocular pressure.

Published
2016

5. THE CLINICAL CASES OF PALLISTER-KILLIANS’S SYNDROME IN A CHILD

Author

T. V Sudovskaya, N. Sh Kokoeva, Yu. A Bobrovskaya, and A. A Makarova

Subjects
Pediatrics, medicine.medical_specialty, Fuel Technology, S syndrome, business.industry, medicine, Energy Engineering and Power Technology, business
Abstract

This article was designed to report a clinical case of a rare syndromic disease - Pallister-Killians’s syndrome characterized by the signs of mental deficiency, abnormal features of cranial bones , congenitally reduced arterial pressure, multiple abnormalities of the facial features (including the eyes and the mouth cavity), ears, skeleton, the cardiovascular system, nervous system, and other systems of the body. The syndrome was described for the first time in 1977 by Philip Pallister and thereafter investigated in more detail by Maria Teschler-Nicola and Wolfgang Killian in 1981. In our case, the somatic status of a 3 month-old child presenting with this pathological condition was characterized by a large variety of congenital defects of the nervous system, including corpus collosum hypoxia, ischemic lesions of the brain tissue, bilateral subependymal pseudocysts, lenticulostriate agniopathies, and congenital heart failure. The pathological changes of the visual analyzer manifested themselves as unilateral grade 3 microphthalmos, sclerocornea, optic nerve disk coloboma, narrowing of the palpebral fissure, considerable decrease of the size of the conjunctival cavity in the absence of the appreciable alterations in the eye ball. Rehabilitation of the affected child with congenital microphthalmos included gradual ocular prosthetics and the treatment by the specialists of other medical professions.

Published
2017

6. [Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation]

Author

I A Filatova, N. Sh Kokoeva, Yu. A Bobrovskaya, T N Kiseleva, and T. V Sudovskaya

Subjects
0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ophthalmic examination, medicine.medical_treatment, Diagnostic Techniques, Ophthalmological, Immunologic Tests, Microphthalmia, Prosthesis Implantation, 03 medical and health sciences, 0302 clinical medicine, Anophthalmos, medicine, Humans, Microphthalmos, Child, Ultrasonography, Rehabilitation, Anophthalmia, business.industry, Eye, Artificial, Contraindications, Infant, Axial length, medicine.disease, eye diseases, Surgery, Ophthalmology, Skull, Axial Length, Eye, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, Child, Preschool, 030221 ophthalmology & optometry, Female, business, Tomography, X-Ray Computed, Orbit, Orbital Implants
Abstract

To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment.A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays).Basing on the examinationwe have determined the common types of congenital micro- and anophthalmia in children. We have also developed a stepwise prosthetic treatment aimed at better cosmetic rehabilitation. Indications and contraindications for the use of ocular prostheses in children with congenital micro- and anophthalmia have been identified.The proposed method of stepwise prosthetics is the principal option for conservative rehabilitation of children with congenital micro- or anophthalmia.Цель - обобщить клинико-анатомические особенности врожденного микрофтальма и анофтальма у детей, разработать классификацию, определить показания и противопоказания к протезированию, сроки первичного и последующего протезирования детей. Материал и методы. Обследованы 70 детей с врожденным микрофтальмом и анофтальмом в возрасте от 1 мес до 12 лет. Помимо традиционного офтальмологического обследования, проведены ультразвуковые исследования глаза и орбиты (измерение переднезадней оси и В-сканирование), компьютерная томография орбит и черепа, иммунологические исследования - серологическая диагностика различных инфекций методом иммуноферментного анализа. Результаты. На основании результатов комплексного клинико-инструментального обследования определены виды врожденного микрофтальма и анофтальма. Предложен метод ступенчатого протезирования для косметической реабилитации детей. Определены показания и противопоказания к протезированию у детей с врожденным микрофтальмом и анофтальмом. Заключение. Метод ступенчатого протезирования является основным методом консервативной реабилитации детей с врожденным микрофтальмом и анофтальмом.

Published
2016

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