Цель-оценка изменений фоторецепторных слоев макулярной области сетчатки и хориоидеи в сопоставлении с показателями электрогенеза макулы у больных с пигментным ретинитом (ПР). Материал и методы. Обследовано 10 пациентов (20 факичных глаз) с ПР. Средний возраст составил 27±18,5 года, острота зрения с максимальной коррекцией-0,38±0,22. Помимо стандартного офтальмологического обследования и фоторегистрации глазного дна, проводили электрофизиологические исследования с помощью электроретинографа МБН (Россия): регистрировали общую электроретинограмму (ЭРГ), включая максимальную ЭРГ (колбочко-палочковый ответ), ритмическую ЭРГ (РЭРГ) на 30 Гц и макулярную ЭРГ (МЭРГ). Измерение толщины хориоидеи (ТХ) и сегментацию сетчатки с последующей калькуляцией толщины ее различных слоев проводили с помощью спектрального оптического когерентного томографа RS-3000 Advance («Nidek», Япония) с получением карты диаметром 6 мм в соответствии с «the Early Treatment Diabetic Retinopathy Study» (ETDRS). Результаты. Выявлено уменьшение толщины сетчатки, хориоидеи и фоторецепторных слоев: 1) слоя, включающего наружные сегменты фоторецепторов и пигментный эпителий сетчатки; 2) слоя, включающего внутренние сегменты фоторецепторов, наружный ядерный слой. Уменьшение толщины сетчатки, хориоидеи и фоторецепторных слоев ассоциировано со снижением биоэлектрической активности макулярной области по данным МЭРГ. Максимальная ЭРГ и РЭРГ на 30 Гц была от субнормальной до нерегистрирующейся. Заключение. Снижение биоэлектрической активности макулярной области сетчатки по данным МЭРГ ассоциировано с уменьшением толщины сетчатки, ТХ, фоторецепторных слоев во всех сегментах центральной сетчатки по стандартам EDTRS.
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.
The purpose: to describe clinical cases of choroideremia with mutation in CHM gene with molecular genetic verification of the diagnosis. Methods. Two relatives: a patient aged 33 and his mother’s sibs aged 39 with a rare hereditary retinal disease — choroideremia were examined. Patients’ full ophthalmic examination including autorefractometry, visual acuity testing with full correction, tonometry, biomicroscopy, fundus examination and photo as well as kinetic perimetry were performed. Electrophysiological examination included maximal electroretinogram (ERG), ERG to 30 Hz flicker and macular ERG (MERG) that were registered with electroretinograph MBN (Russia). Family anamnesis was studied. Genetic examination was performed for the verification of the diagnosis and pathologic gene molecular. Results. In 33-year-old patient advanced stage was diagnosed: best corrected visual acuity (BCVA) was OU 0,9, visual field was constricted to 10 degrees in both eyes. High BCVA and subnormal MERG correlated with comparatively preserved foveal structure on OCT. There was the terminal stage of choroideremia: In 39 years old his mother’s sibs BCVA was 0,1 OU, constricted to 5 degrees in both eyes. Maximal ERG and ERG to 30 Hz flicker were nonrecordable. Low BCVA and nonrecordable MERG correlated with defected retinal layers and cystoids macular edema on OCT. In both patients we revealed previously described pathogenic variant of nucleotic sequence in 6 exon of CHM gene (chrX:85213886 G>A), causing nonsense-mutation (p.Arg267*, NM_000390.2) in hemizygous state. Conclusion. Etiopathogenetic approach in choroideremia diagnostics allows providing correct diagnosis, prevention and developing of new treatment methods considering etiological factor.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.