Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy

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.

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Faculty Opinions recommendation of Deep anterior lamellar keratoplasty versus penetrating keratoplasty for macular corneal dystrophy: a randomized trial.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718003891.793477463 ◽

2013 ◽

Author(s):

David Boyer

Keyword(s):

Randomized Trial ◽

Penetrating Keratoplasty ◽

Corneal Dystrophy ◽

Lamellar Keratoplasty ◽

Deep Anterior Lamellar Keratoplasty ◽

Anterior Lamellar Keratoplasty ◽

Macular Corneal Dystrophy

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Oxidative Stress, Ocular Disease and Diabetes Retinopathy

Current Pharmaceutical Design ◽

10.2174/1381612825666190115121531 ◽

2019 ◽

Vol 24 (40) ◽

pp. 4726-4741 ◽

Cited By ~ 8

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.

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

Arteriosclerosis Thrombosis and Vascular Biology ◽

10.1161/01.atv.16.8.992 ◽

1996 ◽

Vol 16 (8) ◽

pp. 992-999 ◽

Cited By ~ 21

Author(s):

Paulette M. Gaynor ◽

Wei-Yang Zhang ◽

Jayne S. Weiss ◽

Sonia I. Skarlatos ◽

Merlyn M. Rodrigues ◽

...

Keyword(s):

Corneal Dystrophy ◽

Cholesterol Accumulation

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

Veterinary Ophthalmology ◽

10.1111/vop.12596 ◽

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

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

European Journal of Ophthalmology ◽

10.1177/1120672121997305 ◽

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.

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

Free Radical Biology and Medicine ◽

10.1016/j.freeradbiomed.2020.12.445 ◽

2021 ◽

Author(s):

Tomas L. White ◽

Neha Deshpande ◽

Varun Kumar ◽

Alex G. Gauthier ◽

Ula V. Jurkunas

Keyword(s):

Cell Cycle ◽

Corneal Dystrophy ◽

M Phase

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Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families

British Journal of Ophthalmology ◽

10.1136/bjophthalmol-2020-318204 ◽

2021 ◽

pp. bjophthalmol-2020-318204

Author(s):

Zohra Chibani ◽

Imen Zone Abid ◽

Peter Söderkvist ◽

Jamel Feki ◽

Mounira Hmani Aifa

Keyword(s):

Autosomal Recessive ◽

Corneal Transplantation ◽

Gene Mutations ◽

In Silico Analysis ◽

Corneal Dystrophy ◽

Solute Carrier Family ◽

Transporter Protein ◽

Bicarbonate Transporter ◽

Corneal Clouding ◽

Solute Carrier

BackgroundAutosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 (SLC4A11) gene which encodes a membrane transporter protein (sodium bicarbonate transporter-like solute carrier family 4 member 11).MethodsTo identify SLC4A11 gene mutations associated with CHED (OMIM: #217700), genomic DNA was extracted from whole blood and sequenced for all exons and intron-exon boundaries in two large Tunisian families.ResultsA novel deletion SLC4A11 mutation (p. Leu479del; c.1434_1436del) is responsible for CHED in both analysed families. This non-frameshift mutation was found in a homozygous state in affected members and heterozygous in non-affected members. In silico analysis largely support the pathogenicity of this alteration that may leads to stromal oedema by disrupting the osmolarity balance. Being localised to a region of alpha-helical secondary structure, Leu479 deletion may induce protein-compromising structural rearrangements.ConclusionTo the best of our knowledge, this is the first clinical and genetic study exploring CHED in Tunisia. The present work also expands the list of pathogenic genotypes in SLC4A11 gene and its associated clinical diagnosis giving more insights into genotype–phenotype correlations.

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