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1.
BMC Ophthalmol ; 21(1): 249, 2021 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-34090370

RESUMO

BACKGROUND: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. CASE PRESENTATION: A 23 months-old girl presented with severe developmental delay, epilepsy, cortical atrophy, cerebellar vermis hypoplasia and ocular impairment. Facial dysmorphism, clubfeet and multiple joint contractures were observed already at birth. Transferrin isoelectric focusing revealed a type 1 pattern. Funduscopy showed hypopigmentation and optic disc pallor. Profound retinal ganglion cell loss and inner retinal layer thinning was documented on spectral-domain optical coherence tomography imaging. The presence of optic nerve hypoplasia was also supported by magnetic resonance imaging. A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060 C > T p.(Arg354Cys) in ALG3. CONCLUSIONS: Our study expands the spectrum of pathogenic variants identified in ALG3. Thirty-three variants in 43 subjects with ALG3-CDG have been reported. Literature review shows that visual impairment in ALG3-CDG is most commonly linked to optic nerve hypoplasia.


Assuntos
Defeitos Congênitos da Glicosilação , Degeneração Retiniana , Pré-Escolar , Defeitos Congênitos da Glicosilação/genética , Olho , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Manosiltransferases/genética , Fenótipo
2.
Zhonghua Yan Ke Za Zhi ; 57(6): 465-469, 2021 Jun 11.
Artigo em Chinês | MEDLINE | ID: mdl-34098697

RESUMO

The application of artificial intelligence (AI) in ophthalmology will greatly reduce the workload of ophthalmologists. Machine learning is an important branch of AI, and deep learning is the most important algorithm in machine learning. At present, AI is well applied in the ophthalmic field. This article summarizes the use of AI in ophthalmology and discusses its inadequacy and future to provide reference for clinical practice. (Chin J Ophthalmol, 2021, 57: 465-469).


Assuntos
Oftalmologistas , Oftalmologia , Inteligência Artificial , Olho , Humanos , Aprendizado de Máquina
3.
Zhonghua Yan Ke Za Zhi ; 57(6): 470-476, 2021 Jun 11.
Artigo em Chinês | MEDLINE | ID: mdl-34098698

RESUMO

Myopia has become an important global public health problem, especially in East Asia. Due to its high prevalence and multiple ocular complications, it is imperative to take effective measures against the development of myopia. Recent studies have shown that outdoor activity is one of the protective factors for myopia and sunlight can delay the progression of myopia. As a possible mediator between sunlight and myopia, vitamin D gradually comes into public view. Vitamin D refers to a kind of secosteroids responsible for regulating calcium and phosphate metabolism. In addition to this main function, it is also correlated with many eye diseases like diabetic retinopathy, age-related macular degeneration, glaucoma etc. This review summarizes relevant epidemiologic and genetic studies as well as possible biological mechanisms to provide theoretical reference for the plausible application of vitamin D in the prevention and therapy of myopia. (Chin J Ophthalmol, 2021, 57: 470-476).


Assuntos
Retinopatia Diabética , Degeneração Macular , Miopia , Olho , Humanos , Miopia/etiologia , Miopia/prevenção & controle , Prevalência , Vitamina D
5.
Nat Commun ; 12(1): 3291, 2021 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-34078905

RESUMO

The formation of hyperphosphorylated intracellular Tau tangles in the brain is a hallmark of Alzheimer's disease (AD). Tau hyperphosphorylation destabilizes microtubules, promoting neurodegeneration in AD patients. To identify suppressors of tau-mediated AD, we perform a screen using a microRNA (miR) library in Drosophila and identify the miR-9 family as suppressors of human tau overexpression phenotypes. CG11070, a miR-9a target gene, and its mammalian orthologue UBE4B, an E3/E4 ubiquitin ligase, alleviate eye neurodegeneration, synaptic bouton defects, and crawling phenotypes in Drosophila human tau overexpression models. Total and phosphorylated Tau levels also decrease upon CG11070 or UBE4B overexpression. In mammalian neuroblastoma cells, overexpression of UBE4B and STUB1, which encodes the E3 ligase CHIP, increases the ubiquitination and degradation of Tau. In the Tau-BiFC mouse model, UBE4B and STUB1 overexpression also increase oligomeric Tau degradation. Inhibitor assays of the autophagy and proteasome systems reveal that the autophagy-lysosome system is the major pathway for Tau degradation in this context. These results demonstrate that UBE4B, a miR-9 target gene, promotes autophagy-mediated Tau degradation together with STUB1, and is thus an innovative therapeutic approach for AD.


Assuntos
Doença de Alzheimer/genética , Proteínas de Drosophila/genética , MicroRNAs/genética , Ubiquitina-Proteína Ligases/genética , Proteínas tau/genética , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Animais , Autofagia/genética , Encéfalo/metabolismo , Encéfalo/patologia , Linhagem Celular Tumoral , Modelos Animais de Doenças , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Olho/metabolismo , Olho/patologia , Humanos , Lisossomos/metabolismo , Camundongos , MicroRNAs/metabolismo , Neurônios/metabolismo , Neurônios/patologia , Fosforilação , Complexo de Endopeptidases do Proteassoma/metabolismo , Processamento de Proteína Pós-Traducional , Proteólise , Ubiquitina-Proteína Ligases/metabolismo , Ubiquitinação , Proteínas tau/metabolismo
6.
BMJ Case Rep ; 14(5)2021 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-34031083

RESUMO

A 12-year-old girl presented with an unusually large mass under the right lower eyelid and a smaller mass under the left lower lid since the last 6 months. The parents had noticed the absence of the right eyeball and a very small left eyeball and no vision in both eyes since birth but did not approach the healthcare system. The patient was diagnosed as a case of bilateral severe microphthalmos with colobomatous cyst with late presentation and was treated surgically. The parents were counselled for education and training of the child in schools for visually impaired. Early treatment and rehabilitation help patients lead a normal life in these cases. In rural areas, patients face challenges in getting access to the specialty eye-care services due to several barriers, including lack of availability and affordability. This case highlights the disparities in essential health services in low and middle-income countries.


Assuntos
Coloboma , Cistos , Microftalmia , Criança , Coloboma/complicações , Coloboma/cirurgia , Cistos/complicações , Cistos/cirurgia , Países em Desenvolvimento , Olho , Feminino , Acesso aos Serviços de Saúde , Humanos , Microftalmia/complicações
7.
BMJ Case Rep ; 14(5)2021 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-34045204

RESUMO

A 36-year-old man presented with proptosis and external ophthalmoplegia of the left globe following road traffic injury. Cerebral angiogram revealed moderate flow direct carotid cavernous fistula on left side for which coil embolisation was done repeatedly. Subsequently, the patient developed decreased vision in left eye and developed features of left-sided ocular ischaemic syndrome. The patient was treated conservatively with spontaneous reversal of ocular ischaemic syndrome and complete regain of visual function.


Assuntos
Fístula Carotidocavernosa , Embolização Terapêutica , Oftalmopatias , Doenças Vasculares , Adulto , Fístula Carotidocavernosa/diagnóstico por imagem , Fístula Carotidocavernosa/etiologia , Fístula Carotidocavernosa/terapia , Embolização Terapêutica/efeitos adversos , Olho , Humanos , Masculino
8.
J Med Case Rep ; 15(1): 253, 2021 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-33941242

RESUMO

BACKGROUND: It has been disputed whether Lyme is a true causative agent in posterior uveitis or an incidental finding. CASE PRESENTATION: This report presents a case of a 33-year-old Caucasian female with a remote history of Lyme disease who presented with blurry vision in the right eye. Exam and imaging revealed a right active chorioretinitis and positive Lyme serology. The patient was systemically treated with prednisone and antibiotics. Symptoms initially improved, but she later developed a localized choriocapillaritis in the left eye. Steroids and antibiotics were restarted many times with fluctuating course of the disease. The patient was then started on chronic steroid-sparing immunosuppression, which has controlled the condition without recurrence. CONCLUSIONS: The current report presents a unique case of recurrent bilateral chorioretinitis with positive Lyme serology and raises the question of the existence of true Lyme-associated uveitis.


Assuntos
Coriorretinite , Infecções Oculares Bacterianas , Doença de Lyme , Adulto , Coriorretinite/diagnóstico , Coriorretinite/tratamento farmacológico , Olho , Feminino , Humanos , Doença de Lyme/complicações , Doença de Lyme/diagnóstico , Doença de Lyme/tratamento farmacológico , Prednisona/uso terapêutico
9.
Klin Monbl Augenheilkd ; 238(5): 555-560, 2021 May.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-34020483

RESUMO

Since the beginning of 2020, SARS-CoV-2, the pathogen of COVID-19, has led to a global pandemic that also affects ophthalmology. Ophthalmologists can be confronted at any time with potentially COVID-19 associated ocular symptoms or manifestations in patients and also become infected through close patient contact. Even without systemic infection, the ocular surface can come into direct contact with aerosols or liquids containing SARS-CoV-2 particles. A smear infection through hand-to-eye contact is also possible. A purely isolated ocular infection has not yet been shown. Rather, it seems that ocular complications occur in the context of a systemic infection. However, ocular symptoms can also be the first symptom of COVID-19. The most common ocular complication of COVID-19 is mild follicular conjunctivitis. Haemorrhagic conjunctivitis, dry eye disease, episcleritis, or retinal involvement can also occur less frequently. There are currently no evidence-based therapy recommendations for COVID-19 associated diseases of the ocular surface. Artificial tears might be helpful for symptom relief. There is no evidence for antiviral, antibiotic, or anti-inflammatory therapies, but these medications might be used in individual cases. Potential intraocular complications include retinal artery occlusions and haemorrhages, as well as cotton wool spots caused by complement-mediated thrombotic angiopathy. Neuro-ophthalmological complications including Miller-Fisher syndrome or infarct-related central blindness can also occur in very rare cases. Knowledge of potential transmission routes and personal protective equipment is just as essential for each ophthalmologist as a basic knowledge of potential ocular symptoms and complications.


Assuntos
COVID-19 , Conjuntivite , Conjuntivite/diagnóstico , Olho , Humanos , Pandemias , SARS-CoV-2
10.
J Vis Exp ; (170)2021 04 28.
Artigo em Inglês | MEDLINE | ID: mdl-33999033

RESUMO

The Drosophila optic lobe, comprised of four neuropils: the lamina, medulla, lobula and lobula plate, is an excellent model system for exploring the developmental mechanisms that generate neural diversity and drive circuit assembly. Given its complex three-dimensional organization, analysis of the optic lobe requires that one understand how its adult neuropils and larval progenitors are positioned relative to each other and the central brain. Here, we describe a protocol for the dissection, immunostaining and mounting of larval and adult brains for optic lobe imaging. Special emphasis is placed on the relationship between mounting orientation and the spatial organization of the optic lobe. We describe three mounting strategies in the larva (anterior, posterior and lateral) and three in the adult (anterior, posterior and horizontal), each of which provide an ideal imaging angle for a distinct optic lobe structure.


Assuntos
Encéfalo/cirurgia , Lobo Óptico de Animais não Mamíferos/cirurgia , Envelhecimento , Animais , Drosophila melanogaster , Olho , Imuno-Histoquímica , Larva , Procedimentos Cirúrgicos Oftalmológicos
12.
Int J Med Sci ; 18(11): 2389-2393, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33967616

RESUMO

Facing the unprecedented global public health crisis caused by coronavirus disease 2019 (COVID-19), nucleic acid tests for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are the gold standard for diagnosing COVID-19. The asymptomatic carriers were not suspected of playing a significant role in the ongoing pandemic, and universal nucleic acid screening in close contacts of confirmed cases and asymptomatic carriers has been carried out in many medium- and high-risk areas for the spread of the virus. Recently, anal swabs for key population screening have been shown to not only reduce missed diagnoses but also facilitate the traceability of infectious sources. As a specimen for the detection of viruses, the goal of this paper is to briefly review the transmission route of SARS-CoV-2 and the necessity of using anal swabs for SARS-CoV-2 screening to minimize transmission and a threat to other people with COVID-19.


Assuntos
COVID-19/diagnóstico , Fezes/virologia , SARS-CoV-2/isolamento & purificação , COVID-19/transmissão , Teste de Ácido Nucleico para COVID-19 , Olho/virologia , Humanos , Transmissão Vertical de Doenças Infecciosas , Manejo de Espécimes
15.
AAPS PharmSciTech ; 22(5): 160, 2021 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-34031787

RESUMO

Papaverine, a poorly soluble opium alkaloid, has recently been shown to reduce retinal inflammation due to which it may have therapeutic application in the management of Leber's hereditary optic neuropathy. In this study, papaverine eyedrops based on medium chain triglycerides were prepared and the effect of diethyl glycol monoethyl ether (DGME) on their ocular distribution was evaluated using an ex vivo porcine eye model. The route of drug penetration was also studied by orienting the eye to expose either only the cornea or the sclera to the formulation. Furthermore, in vivo studies were performed to confirm ocular tolerability and evaluate ocular drug distribution. Our results showed increased papaverine concentrations in the cornea and sclera in the presence of DGME but with a slight reduction in the retina-choroid (RC) drug concentration when administered via the corneal route, suggesting that DGME enhances drug accumulation in the anterior ocular tissues but with little effect on posterior drug delivery. In vivo, the papaverine eyedrop with DGME showed good ocular tolerability with the highest drug concentration being observed in the cornea (1.53 ± 0.28 µg/g of tissue), followed by the conjunctiva (0.74 ± 0.18 µg/g) and sclera (0.25 ± 0.06 µg/g), respectively. However, no drug was detected in the RC, vitreous humor or plasma. Overall, this study highlighted that DGME influences ocular distribution and accumulation of papaverine. Moreover, results suggest that for hydrophobic drugs dissolved in hydrophobic non-aqueous vehicles, transcorneal penetration via the transuveal pathway may be the predominant route for drug penetration to posterior ocular tissues. Graphical abstract.


Assuntos
Olho/metabolismo , Papaverina/farmacocinética , Veículos Farmacêuticos/administração & dosagem , Animais , Humor Aquoso/metabolismo , Soluções Oftálmicas/metabolismo , Papaverina/administração & dosagem , Coelhos , Suínos , Distribuição Tecidual
16.
Eur J Intern Med ; 87: 90-91, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33814274

Assuntos
Olho , Humanos
17.
Wiad Lek ; 74(2): 179-183, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33813468

RESUMO

OBJECTIVE: The aim: To clarify the sources and determine the chronological sequence of the germs of anatomical structures of the orbit at the early period of human ontogenesis. PATIENTS AND METHODS: Materials and methods: Using a complex of methods of morphological examination (morphometry, microscopy, three-dimensional computer reconstruction and statistical analysis) 30 series of consecutive histological sections of human embryos and prefetuses aged from 3 till 8 weeks od IUD (3.0-30.0 mm parietal-coccygeal length (PCL)) were studied. RESULTS: Results: At the 4rd week of IUD the orbital region is represented by the place of close contact of the neuroectoderm of the optic vesicle with the adjacent integumentary ectoderm,as well as the mesenchyme surrounding this place of contact. In embryos of 4.0 mm PCL, the rudiment of the optic stalk is observed as a result of the transformation of the junction of the area of the eye rudiment with the brain. CONCLUSION: Conclusions: 1. The rudiments of the organ of vision (lens placodes) appear in the 4rd week of IUD. At the 5th week of IUD as a result of gradual intussusception of crystalline placodes into the adjacent mesenchyme, lens pit are formed, and then - lens vesicles. 2. Rudiments of the extraocular muscles (except for the inferior oblique muscle) was detected at the end of the 5th week of IUD. The rudiment of the inferior oblique muscle develops from a single mesodermal islet located in the mesenchyme medially and below the eyeball. Simultaneously with the rudiments of the extraokular muscles, the trochlear and abductor nerves are develop and ingrown into the orbit. 3. The development of blood vessels of the orbit occurs from two sources - from the islands of local angiogenesis, which begins in the 5th week of IUD, and from extraorganic vessels, which can be traced in the form of a vascular network at the end of the 6th week of IUD. The combination of both sources is observed at the end of the 7th week of IUD. 4. The embryonic period of ontogenesis is the first critical period in the development of the human orbit, due to the formation of the muscles, nerve and vascular structures.


Assuntos
Olho , Órbita , Idoso , Humanos , Morfogênese
18.
Zhonghua Yan Ke Za Zhi ; 57(4): 292-296, 2021 Apr 11.
Artigo em Chinês | MEDLINE | ID: mdl-33832054

RESUMO

Objective: To evaluate the effect of extended depth of focus contact lenses on the accommodation of presbyopic eyes. Methods: It was a double-blind randomized controlled trial. Thirty eyes of 30 emmetropic volunteers (15 males, 15 females) who were staff or family members of Hainan Eye Hospital, aged (49.6±4.5) years, were selected. Non-dominant eyes were fitted with soft contact lenses with an extended depth of field. The subjects and examiners were double-blind. Visual acuities of the subjects were examined at 5 m, 40 cm and 60 cm distance before and after the contact lens wear. Meanwhile, the monocular accommodative amplitude, monocular accommodative facility (±1.00 D), accommodative response, binocular positive/negative relative accommodation and accommodation convergence/accommodation at 40 cm distance were measured. The data were analyzed by paired t test and Wilcoxon signed rank test before and after the contact lens wear, and a P value less than 0.05 was considered statistically significant. Results: Before and after the contact lens wear, the visual acuity at 40 cm was 4.59±0.14 and 4.69±0.10, and the difference was statistically significant (t=4.16, P<0.01). The visual acuity at 60 cm was 4.74±0.10 and 4.74±0.12, and the difference had no statistical significance (t=0.626, P>0.05). The distance visual acuity was 5.00±0.06 and 4.96±0.06, and the difference was statistically significant (t=3.89, P<0.01). The monocular accommodative amplitude was significantly improved from (3.26±0.26) D to (4.00±0.51) D (t=7.59, P<0.01). The monocular accommodative facility was also significantly improved from (2.67±1.60) cyc/min to (3.53±1.87) cyc/min (t=2.17, P<0.05). There was no statistically significant difference in the positive and negative relative accommodation (t=1.90, 0.66; P>0.05). The accommodation convergence/accommodation and adjustment lag had no statistical significance (Z=0.83, 0.11; P>0.05). Conclusion: Wearing contact lenses with an extended depth of field can improve the near vision and accommodation of presbyopes (Chin J Ophthalmol, 2021, 57:292-296).


Assuntos
Lentes de Contato Hidrofílicas , Miopia , Acomodação Ocular , Olho , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Acuidade Visual
19.
Vestn Oftalmol ; 137(2): 12-17, 2021.
Artigo em Russo | MEDLINE | ID: mdl-33881258

RESUMO

PURPOSE: To study the changes in the concentration of vascular endothelial growth factor A (VEGF-A) in the intraocular fluid (IOF) of rats with alloxan model of diabetes mellitus (DM) on insulin therapy at different time points. MATERIAL AND METHODS: The alloxan model of DM was simulated in 197 rats by a single intraperitoneal injection of 100 mg/kg alloxan hydrate. The animals were divided into 3 groups 7 days after administration of alloxan hydrate. The main group consisted of animals with alloxan model of DM, which begain receiving single daily intraperitoneal injections of insulin at a dose of 0.9 U/kg body weight. The comparison group included animals with alloxan model of DM, which did not receive the therapy. The control group consisted of healthy animals. The experimental animals were withdrawn from the study 1 and 4 months after the start of insulin therapy. The concentration of VEGF-A was determined in 80-90 µL of intraocular fluid collected from both eyes of each animal. RESULTS: At 1 month, the VEGF-A concentration in the intraocular fluid in the study group (n=17; 140 [136; 210] pg/mL) was statistically significantly higher than in the comparison group (n=20; 72 [58; 86] pg/mL; pm-u<0.0004), and in the control group (n=16; 76 [62.5; 88] pg/mL; pm-u=0.0045). The comparison group did not have statistically significant differences from the control group (pm-u=0.9979). At 4 months, the VEGF-A concentration in the intraocular fluid in the study group (n=18) was 84.8 [61.1; 93.2] pg/mL, in the comparison group (n=16) - 66.4 [54.4; 73.75] pg/mL. The VEGF-A concentration in the intraocular fluid in the study group at 4 months was statistically significantly lower than in the study group at 1 month (pm-u<0.0044). CONCLUSION: Insulin therapy causes a statistically significant increase in the concentration of VEGF-A in the intraocular fluid of rats with alloxan model of DM after 1 month, but after 4 months of the therapy the VEGF-A concentration falls back to the initial values.


Assuntos
Aloxano , Diabetes Mellitus , Animais , Humor Aquoso , Olho , Insulina , Ratos , Fator A de Crescimento do Endotélio Vascular
20.
Vestn Oftalmol ; 137(2): 26-33, 2021.
Artigo em Russo | MEDLINE | ID: mdl-33881260

RESUMO

The active exploration of space requires minimizing negative effects induced by weightlessness (microgravity). Risk reduction can be achieved with the use of artificial gravity created by short-radius centrifuge (SRC). Short-radius centrifuge causes redistribution of body liquids towards the caudal portion of the body imitating a vertical human pose. Presently, studying the safety of this prevention method for the human body in general, and for the visual system in particular, is one of the priority tasks of space medicine. PURPOSE: To study the effects of artificial gravity on the perimetry measurements of the eye. MATERIAL AND METHODS: The study included 9 volunteers (men) aged 31.2±6 years (from 25 to 40 years). Each man was subjected to three rotations on SRC. The operative factor in the tests was overloads in the «head-pelvis¼ direction. Rotations were carried out in three different modes with varying maximum overload value at the feet level of up to 2.0; 2.4; 2.9 G. Pulsar-perimetry was carried out before and 1-2 hours after the rotations estimating the mean threshold of retinal photosensitivity Mean Sensitivity (MS), mean loss of sensitivity Mean Defect (MD), square root of Loss Variance (sLV); the Bebie curve; additionally, cluster analysis was performed. RESULTS: Mean threshold of retinal photosensitivity, mean loss of photosensitivity, square root of Loss Variance by Pulsar-perimetry before (MS=22.75 dB; MD= -0.6 dB; sLV=1.5) and after rotations on SRC (in Mode 1: 23.4; -0.2; 1.5, Mode 2: 23.2; -0.4; 1.4 and Mode 3: 23.5; -0.8; 1.4 respectively) did not change significantly. No adverse phenomena were detected in the eyes. CONCLUSIONS: There were no significant changes in the visual fields of the test subjects after rotations in three different modes according to Pulsar-perimetry data, which gives reason to tentatively conclude that using SCR in these modes is safe for the visual sensory system. According to preliminary data, this method can be successfully used to reduce the risk of long-term space flights and prevent unwanted phenomena caused by weightlessness.


Assuntos
Gravidade Alterada , Testes de Campo Visual , Adulto , Olho , Humanos , Masculino , Sensibilidade e Especificidade , Campos Visuais
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