scholarly journals Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

2021 ◽  
Vol 62 (1) ◽  
pp. 17
Author(s):  
Timothy T. Xu ◽  
Yi-Ju Li ◽  
Natalie A. Afshari ◽  
Ross A. Aleff ◽  
Tommy A. Rinkoski ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Familial Transmission ◽  
Disease Expression

DMEK, DSAEK in the treatment of endothelial-epithelial corneal dystrophy

2020 ◽  
pp. 114-115
Author(s):  
D.A. Krivolapova ◽  
◽  
G.A. Yessenzhan ◽  
B.I. Issergepova ◽  
A.K. Kanatbekova ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Endothelial Keratoplasty

Актуальность. DMEK (descemet membraneendothelial keratoplasty) и DSAEK (Descemet’sstripping automated endothelial keratoplasty) в лечении эндотелиально-эпителиальных дистрофий(ЭЭД) – наиболее высокотехнологичный, малоинвазивный, патогенетически ориентированный метод трансплантации роговицы. Учитывая отсутствие тенденции к снижению частоты ЭЭД во всем мире, представляется актуальным изучение эффективности современных методов эндотелиальной кератопластики. Цель. Оценка клинической эффективностиDMEK, DSAEK у больных с эндотелиально-эпителиальной дистрофией роговицы. Материал и методы. В исследование включены7 пациентов (4 женщины и 3 мужчин), прооперированные в КазНИИ ГБ в период с 2018 по 2019 г. Средний срок наблюдения – 12,6 месяцев. Средний возраст пациентов на момент операции – 69,57лет и варьировал от 52 до 79 лет. Для объективной оценки структуры роговицы, пахиметрии использовался метод оптической когерентной томографии Spectralis роговичный модуль. Результаты. Показанием к проведению эндотелиальной кератопластики в 1 случае (1 глаз)явилась первичная дистрофия Фукса, во всех остальных случаях – вторичная ЭЭД в исходе предшествующей хирургии катаракты. Проведено 4DSAEK (у 1 пациента повторно) и 4 DMEK; операции во всех случаях произведены без осложнений.В одном случае DSAEK на 3-и сутки наблюдалось частичное отслоение лоскута в пределах 1 квадранта, пациенту в условиях операционной введен воздух, достигнуто полное прилегание лоскута. Восстановление прозрачности роговицы достигнуто во всех случаях. Острота зрения до операции составила в среднем, 0,08; на 10 сутки после операции наблюдалось повышение остроты зрения в среднем до 0,2 (от 0,1 до 0,3). Снижение отека роговицы отмечалось, в среднем, через 1–2 мес. после операции. Пахиметрия до операции составила от 570 до 800 мкн в оптической зоне, через 3 мес. эти данные составили от 550 до 680 мкн. Выводы. DMEK и DSAEK – эффективный, безопасный, малоинвазивный метод трансплантации роговицы, с минимальным реабилитационным периодом – предпочтительный в случаях декомпенсации эндотелия.

Oxidative Stress, Ocular Disease and Diabetes Retinopathy

2019 ◽  
Vol 24 (40) ◽  
pp. 4726-4741 ◽  
Author(s):  
Orathai Tangvarasittichai ◽  
Surapon Tangvarasittichai
Keyword(s):  
Oxidative Stress ◽  
Dna Damage ◽  
Cell Death ◽  
Protein Modification ◽  
Morphological Changes ◽  
Corneal Dystrophy ◽  
Age Related Macular Degeneration ◽  
Ocular Diseases ◽  
Retinal Light Damage ◽  
Age Related

Background: Oxidative stress is caused by free radicals or oxidant productions, including lipid peroxidation, protein modification, DNA damage and apoptosis or cell death and results in cellular degeneration and neurodegeneration from damage to macromolecules. Results: Accumulation of the DNA damage (8HOdG) products and the end products of LPO (including aldehyde, diene, triene conjugates and Schiff’s bases) were noted in the research studies. Significantly higher levels of these products in comparison with the controls were observed. Oxidative stress induced changes to ocular cells and tissues. Typical changes include ECM accumulation, cell dysfunction, cell death, advanced senescence, disarrangement or rearrangement of the cytoskeleton and released inflammatory cytokines. It is involved in ocular diseases, including keratoconus, Fuchs endothelial corneal dystrophy, and granular corneal dystrophy type 2, cataract, age-related macular degeneration, primary open-angle glaucoma, retinal light damage, and retinopathy of prematurity. These ocular diseases are the cause of irreversible blindness worldwide. Conclusions: Oxidative stress, inflammation and autophagy are implicated in biochemical and morphological changes in these ocular tissues. The development of therapy is a major target for the management care of these ocular diseases.

Accumulation of HDL Apolipoproteins Accompanies Abnormal Cholesterol Accumulation in Schnyder's Corneal Dystrophy

1996 ◽  
Vol 16 (8) ◽  
pp. 992-999 ◽  
Author(s):  
Paulette M. Gaynor ◽  
Wei-Yang Zhang ◽  
Jayne S. Weiss ◽  
Sonia I. Skarlatos ◽  
Merlyn M. Rodrigues ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Cholesterol Accumulation

Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study

2019 ◽  
Vol 22 (3) ◽  
pp. 294-304
Author(s):  
Claudia Busse ◽  
Christiane Kafarnik ◽  
Rose Linn‐Pearl ◽  
Christelle Volmer ◽  
Kaspar Matiasek ◽  
...  
Keyword(s):  
Multicenter Study ◽  
Corneal Dystrophy ◽  
Labrador Retrievers ◽  
Macular Corneal Dystrophy

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

2021 ◽  
pp. 112067212199730
Author(s):  
Aino Maaria Jaakkola ◽  
Petri J Järventausta ◽  
Reetta-Stiina Järvinen ◽  
Pauliina Repo ◽  
Tero T Kivelä ◽  
...  
Keyword(s):  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Late Onset ◽  
Family Members ◽  
Anterior Segment ◽  
Corneal Dystrophy ◽  
Ophthalmological Examination ◽  
Lattice Corneal Dystrophy ◽  
Tgfbi Gene ◽  
Novel Variant

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

scholarly journals Cell cycle re-entry and arrest in G2/M phase induces senescence and fibrosis in Fuchs Endothelial Corneal Dystrophy

2021 ◽  
Author(s):  
Tomas L. White ◽  
Neha Deshpande ◽  
Varun Kumar ◽  
Alex G. Gauthier ◽  
Ula V. Jurkunas
Keyword(s):  
Cell Cycle ◽  
Corneal Dystrophy ◽  
M Phase

scholarly journals A Timely Call to Arms: COVID-19, the Circadian Clock, and Critical Care

2021 ◽  
Vol 36 (1) ◽  
pp. 55-70
Author(s):  
Jeffrey Haspel ◽  
Minjee Kim ◽  
Phyllis Zee ◽  
Tanja Schwarzmeier ◽  
Sara Montagnese ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Human Physiology ◽  
Critical Care ◽  
Intensive Care ◽  
Severe Acute Respiratory Syndrome ◽  
Circadian Clock ◽  
Clinical Course ◽  
Disease Expression ◽  
Severe Manifestation ◽  
Novel Coronavirus

We currently find ourselves in the midst of a global coronavirus disease 2019 (COVID-19) pandemic, caused by the highly infectious novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Here, we discuss aspects of SARS-CoV-2 biology and pathology and how these might interact with the circadian clock of the host. We further focus on the severe manifestation of the illness, leading to hospitalization in an intensive care unit. The most common severe complications of COVID-19 relate to clock-regulated human physiology. We speculate on how the pandemic might be used to gain insights on the circadian clock but, more importantly, on how knowledge of the circadian clock might be used to mitigate the disease expression and the clinical course of COVID-19.

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