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New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.

Myocilin (MYOC) gene is expressed in many ocular tissues, including the trabecular meshwork, a specialized eye tissue essential in regulating intraocular pressure. Many mutations in MYOC have been detected in primary open-angle glaucoma (POAG). We investigated whether MYOC mutations contributed to the susceptibility to POAG in a Chinese family. In a four-generation family affected with POAG, ocular examinations were performed on all members of the pedigree to determine their disease status, and 200 healthy matched controls were recruited. PCR-restriction fragment length polymorphism (PCR-RFLP)

Rapamycin mediates mTOR signaling in reactive astrocytes and reduces retinal ganglion cell loss.

Damage and loss of retinal ganglion cells (RGCs) can cause visual impairment. The underlying molecular mechanisms that mediate RGC death in ischemic retinal diseases are still unclear. In this study, we sought to understand the neuroprotective effect of rapamycin, the selective inhibitor of mTORC1, on RGC survival and the cellular mechanics that mediate this effect. Recent studies have reported that the epidermal growth factor (EGF) receptor shows an increase in expression in astrocytes after injury, and this receptor can promote their transformation into reactive astrocytes. Our results, alon

Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma.

The glaucomas comprise a genetically complex group of retinal neuropathies that typically occur late in life and are characterized by progressive pathology of the optic nerve head and degeneration of retinal ganglion cells. In addition to age and family history, other significant risk factors for glaucoma include elevated intraocular pressure (IOP) and myopia. The complexity of glaucoma has made it difficult to model in animals, but also challenging to identify responsible genes. We have used zebrafish to identify a genetically complex, recessive mutant that shows risk factors for glaucoma inc

Vitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.

Vogt-Koyanagi-Harada (VKH) disease is a multisystem disorder characterized by bilateral granulomatous panuveitis resulting in serous retinal detachments, disk edema, and a sunset glow fundus development. Furthermore, it is associated with various extraocular findings, such as tinnitus, hearing loss, vertigo, poliosis, and vitiligo (1). VKH is considered to be an autoimmune disease mediated by T-cells targeting melanocyte antigen tyrosinase peptide (2). Moreover, VKH more often occurs in individuals with a genetic predisposition to the disease, including those of Asian and Hispanic heritage (3)

Activation of stretch-activated channels and maxi-K+ channels by membrane stress of human lamina cribrosa cells.

PURPOSE: The lamina cribrosa (LC) region of the optic nerve head is considered the primary site of damage in glaucomatous optic neuropathy. Resident LC cells have a profibrotic potential when exposed to cyclical stretch. However, the mechanosensitive mechanisms of these cells remain unknown. Here the authors investigated the effects of membrane stretch on cell volume change and ion channel activity and examined the associated changes in intracellular calcium ([Ca(2+)](i)). METHODS: The authors used primary LC cells obtained from normal human donor eyes. Confocal microscopy was used to investi

New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family.

Mutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular investigation. Four out of seven family members were diagnosed with JOAG. All of these patients presented high intraocular pressure and two of them were bilaterally blind. The disease onset varied from 20 to 30years old. There was a nine-year-old family member who had not yet manifested the disease, although he was also a carrier of the mutation. Ophth

Ocular tuberculosis. A prospective study in a general hospital.

Ocular tuberculosis has traditionally been considered uncommon or anecdotal. Imprecise and variable diagnostic criteria have contributed to the confusion surrounding this topic. The increase in extrapulmonary manifestations of tuberculosis during the AIDS era established the need for a prospective study of ocular involvement in patients with all types of tuberculosis using well-defined criteria. During a 15-month period, 300 cases had culture-proven tuberculosis at our institution. We randomly selected 100 for systematic ophthalmologic evaluation. Our criteria for ocular tuberculosis were divi

DRP1 inhibition rescues retinal ganglion cells and their axons by preserving mitochondrial integrity in a mouse model of glaucoma.

Glaucoma is the leading cause of irreversible blindness and is characterized by slow and progressive degeneration of the optic nerve head axons and retinal ganglion cell (RGC), leading to loss of visual function. Although oxidative stress and/or alteration of mitochondrial (mt) dynamics induced by elevated intraocular pressure (IOP) are associated with this neurodegenerative disease, the mechanisms that regulate mt dysfunction-mediated glaucomatous neurodegeneration are poorly understood. Using a mouse model of glaucoma, DBA/2J (D2), which spontaneously develops elevated IOP, as well as an in

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.

Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocular pressure (IOP) and optic disc parameters (the overall meta-analysis sample size varying between 32,000 to 48,000 participants), which are glaucoma-related traits. We identified and independently validated four novel genome-wide significant associations within or near MYOF and CYP26A1, LINC02052 and CRYGS, LMX1B, and LMO7 using single varian

Optic disc haemorrhages at baseline as a risk factor for poor outcome in the Idiopathic Intracranial Hypertension Treatment Trial.

BACKGROUND: The risk of optic disc haemorrhages on visual outcome in idiopathic intracranial hypertension (IIH) is unknown. We report the type and frequency of optic disc haemorrhages and other funduscopic abnormalities at baseline in the study eye of the 133 subjects enrolled in the Idiopathic Intracranial Hypertension Treatment Trial completing 6 months of follow-up. METHODS: We reviewed optic disc photographs to tabulate the frequency and type of optic disc haemorrhages, other funduscopic abnormalities and papilloedema grades of the study eye at baseline and analyse if their presence is as

Измерять ионизирующую фракцию в самолете от массивного протостара.

Важно определить, образуются ли массивные звезды через аккрецию диска, как и их низкомассовые аналоги. Теория и наблюдения указывают на то, что протозвезды являются естественным следствием аккреционных дисков и, вероятно, имеют решающее значение для устранения углового импульса во время краха. Однако массивные протостары, как правило, более редкие, более отдаленные и более окутанные пылью, что затрудняет проведение наблюдений за их реактивными самолетами. Один из основополагающих вопросов заключается в том, является ли степень ионизации в реактивных самолетах одинаковой во всем массовом спектр

LOXL1 deficiency in the lamina cribrosa as candidate susceptibility factor for a pseudoexfoliation-specific risk of glaucoma.

PURPOSE: To test the hypothesis that a primary disturbance in lysyl oxidase-like 1 (LOXL1) and elastin metabolism in the lamina cribrosa of eyes with pseudoexfoliation syndrome constitutes an independent risk factor for glaucoma development and progression. DESIGN: Observational, consecutive case series. PARTICIPANTS: Posterior segment tissues obtained from 37 donors with early and late stages of pseudoexfoliation syndrome without glaucoma, 37 normal age-matched control subjects, 5 eyes with pseudoexfoliation-associated open-angle glaucoma, and 5 eyes with primary open-angle glaucoma (POAG).

Evaluation of the effect of sandblasting and laser surface treatments on the shear bond strength of zirconia with different yttria content using resin cement.

This in vitro study aimed to assess the effects of Al₂O₃ sandblasting and laser treatment, applied individually or in combination, on surface roughness, surface characterization, and shear bond strength (SBS) to resin cement after thermal aging of zirconia with yttria content of 3 mol% and 5 mol%. A total of 192 disk-shaped specimens (Ø12 × 1.2 mm) were prepared from 3Y-TZP (VITA YZ HT) and 5Y-TZP (VITA YZ XT) zirconia. For each zirconia material, specimens were assigned to eight surface-treatment conditions: 50 µm Al₂O₃ sandblasting (50S), 110 µm Al₂O₃ sandblasting (110S), Er,Cr:YSGG laser tr

FundusNet: Глубокоучебный подход к быстрому диагностике нейродегенеративных и глазных заболеваний с использованием образов Фонда.

Раннее обнаружение нейродегенеративных заболеваний имеет решающее значение для эффективного клинического лечения. Однако нынешние методы диагностики являются дорогостоящими и требуют много времени. В этом исследовании мы представляем " FundusNet " - модель глубокого обучения, разработанную на основе снимков фонда, для быстрой и эффективной с точки зрения затрат диагностики нейродегенеративных заболеваний. FundusNet добилась высоких показателей в области прогнозирования возраста (MAE 2,55 года), гендерной классификации (AUC 0,98) и нейродегенеративной диагностики заболеваний - болезнь

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… Increased pressure within the eye can cause cupping of the optic disk, a key indicator in diagnosing glaucoma. Figure 4 c shows that the macula, the darker small central area of the retina, is identified as an image biomarker for AMD. … Located near the optic disk, the macula contains a high density of photoreceptor cells, particularly cones, which are responsible for color vision and detailed central vision. The central part of the macula, called the fovea, is the most sensitive and is crucial for sharp central vision. …

Внутренний ядерный слой в педиатрическом множестве склерозов.

ЦЕЛИ: Множественный склероз педиатрии (POMS) приводит к повреждениям зрительного нерва и сетчатки вследствие оптического неврита (ON) и потенциальной субклинической активности. Нейроаксональные повреждения сетчатки проявляются в разбавлении перипиллярного слоя сетчатки (PRNFL), а также в мешковой ганглионной клетке и внутреннем плексиформном слое (GCIP). Была высказана мысль о том, что толщина внутреннего ядерного слоя (ИНЛ) будет увеличиваться в результате провокационной деятельности или после острого ВН и уменьшится от хронического нейродегенерации. Макулярные микроциклы в INL были описаны у

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… Visual assessment included refraction, best corrected visual acuity (BCVA) measured in decimal units using Snellen charts, visual field, relative afferent pupillary defect, color vision, slitlamp examination and inspection of the optic disk by fundoscopy, and visual evoked potentials (VEP). … Using the optic disk cube setting (6 × 6 × 2 mm, 200 B-Scans with 200 A-Scans per B-Scan), we determined the thickness of the peripapillary RNFL (pRNFL) with device's own segmentation. …

Диагностическая точность межглазой разницы только в слое ячеек для определения оптического неврита при множественном склерозе.

ВВЕДЕНИЕ: Критерии Макдональда 2024 года для диагностики множественного склероза (МС) включают в себя оптическое нервы в качестве пятого региона для обеспечения распространения в космосе. Оптический нейрит (ON) может быть обнаружен с помощью оптической последовательности томографии (OCT) с использованием межглазой абсолютной или процентной разницы (IEAD, IEPD) в толщине ганглионного клеточного плексиформного слоя (GCIPL). ЦЕЛЬ: Сопоставление диагностической точности ГКИПЛ МЭАД/ЙЕДП с ГЦЛ и ИПЛ МЭАД/ЕИПД только для выявления истории ВН. МЕТОДЫ: Это перекрестное ретроспективное исследование охва

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… Patients with diagnoses of ophthalmologic (i.e. myopia greater than –4 diopters, optic disk drusen, glaucoma, cataract, outer retinal pathologies), neurologic, or drug-related causes of retinal damage not attributable to MS were excluded. 17 All patients were screened for the presence of macular … Finally, our findings depend on rigorous quality control of OCT scans and careful exclusion of confounding ophthalmologic pathologies such as severe myopia and optic disk drusen. …

Side Effects of Novel Anticancer Drugs on the Posterior Segment of the Eye: A Review of the Literature.

Currently, common treatment approaches for neoplastic diseases include surgery, radiation, and/or anticancer drugs (chemotherapy, hormone medications, and targeted therapies). In particular, anticancer medicines destroy cancerous cells by blocking certain pathways that aid in the disease's initiation and progression. These pharmaceutical drugs' capacity to inhibit malignant cells has made them indispensable in the treatment of neoplastic disorders. Nonetheless, considering their cyto- and neurotoxicity, as well as their inflammatory responses, these medications may also have unfavorable system

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… Moreover, changes in vascular permeability secondary to estrogen-level variations were considered as possible causative mechanisms of macular and optic disk edema that were documented after anastrozole administration [ 79 , 80 , 81 ]. … Late onset of unilateral optic disk edema secondary to treatment with imatinib mesylate Clin. Case Rep. 2017 5 1573 1575 10.1002/ccr3.1137 29026547 PMC5628210 109. Breccia M. Gentilini F. Cannella L. Latagliata R. Carmosino I. Frustaci A. Alimena G. …

Heparan sulfate regulates intraretinal axon pathfinding by retinal ganglion cells.

PURPOSE. Heparan sulfate (HS) is abundantly expressed in the developing neural retina; however, its role in the intraretinal axon guidance of retinal ganglion cells (RGCs) remains unclear. In this study, the authors examined whether HS was essential for the axon guidance of RGCs toward the optic nerve head. METHODS. The authors conditionally ablated the gene encoding the exostosin-1 (Ext1) enzyme, using the dickkopf homolog 3 (Dkk3)-Cre transgene, which disrupted HS expression in the mouse retina during directed pathfinding by RGC axons toward the optic nerve head. In situ hybridization, immun

The 20th Anniversary of Pegaptanib (MacugenTM), the First Approved Aptamer Medicine: History, Recent Advances and Future Prospects of Aptamers in Therapy.

In addition to classic small-molecule drugs and modern protein-based biologics, an intriguing class of medicines is the therapeutic oligonucleotides. Most approved drugs in this category are antisense oligomers or those acting via RNA interference, both of which use base hybridization. Aptamers, also known as chemical antibodies form a smaller, yet equally interesting group of oligonucleotides that can recognize a wide range of molecular targets. Despite their high potential, only two aptamers have been approved to date, pegaptanib (MacugenTM) and avacincaptad pegol (IzervayTM), both for the t

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… Angioid streaks are irregular lines around the optic disk that extend radially outwards and are often associated with CNV. A 41-year-old patient with a VA of 45 ETDRS letters was treated with pegaptanib every 6 weeks, totaling 4 injections. …

Долгосрочные результаты и прогнозы идиопатического оптического нерита: исследование кохарта.

ВВЕДЕНИЕ: Пациенты, у которых был диагностирован оптический неуриит (ON), не соответствующий диагностическим критериям для множественных склерозов (MS), расстройства спектра нейромиелита оптика (NMO-SD), были подвергнуты тестированию с отрицательным mielin oligodendrocyte glycoprotein Immonglobulin G и в отношении которых было исключено системное заболевание, относятся к категории лиц, страдающих идиопатией (IDON). Это было моноцентрическое ретроспективное исследование. Критерии включения были следующими: пациенты с IDON, отсутствие альтернативного диагноза в течение первого периода 2 годы, по

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… Records were reviewed to acquire demographic data (sex, age); clinical ophthalmologic findings at baseline, during the course and at the last follow‐up (best corrected visual acuity [BCVA], orbital pain, optic disk swelling); MRI characteristics at baseline and during the course (segments involved, chiasmal …