scholarly journals What colour are your eyes? Teaching the genetics of eye colour & colour vision. Edridge Green Lecture RCOphth Annual Congress Glasgow May 2019

Eye ◽  
2021 ◽  
Author(s):  
David A. Mackey
Keyword(s):  
Genome Wide Association Study ◽  
Eye Diseases ◽  
Age Related Macular Degeneration ◽  
Environment Interaction ◽  
Colour Perception ◽  
Mendelian Genetics ◽  
Television Shows ◽  
Age Related ◽  
Eye Colour ◽  
Number Variation

AbstractEye colour and colour perception are excellent examples to use when teaching genetics as they encompass not simply the basic Mendelian genetics of dominant, recessive and X-linked disorders, but also many of the new concepts such as non-allelic diseases, polygenic disease, phenocopies, genome-wide association study (GWAS), founder effects, gene-environment interaction, evolutionary drivers for variations, copy number variation, insertions deletions, methylation and gene inactivation. Beyond genetics, colour perception touches on concepts involving optics, physics, physiology and psychology and can capture the imagination of the population, as we saw with social media trend of “#the dress”. Television shows such as Game of Thrones focused attention on the eye colour of characters, as well as their Dire-wolves and Dragons. These themes in popular culture can be leveraged as tools to teach and engage everyone in genetics, which is now a key component in all eye diseases. As the explosion of data from genomics, big data and artificial intelligence transforms medicine, ophthalmologists need to be genetically literate. Genetics is relevant, not just for Inherited Retinal Diseases and congenital abnormalities but also for the leading causes of blindness: age-related macular degeneration, glaucoma, myopia, diabetic retinopathy and cataract. Genetics should be part of the armamentarium of every practicing ophthalmologist. We need to ask every patient about their family history. In the near future, patients will attend eye clinics with genetic results showing they are at high risk of certain eye diseases and ophthalmologists will need to know how to screen, follow and treat these patients.

scholarly journals A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells

Cells ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 179
Author(s):  
Laurence Klipfel ◽  
Marie Cordonnier ◽  
Léa Thiébault ◽  
Emmanuelle Clérin ◽  
Frédéric Blond ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Retinal Pigment Epithelial Cells ◽  
Age Related Macular Degeneration ◽  
Lactate Transport ◽  
Ips Cell ◽  
Risk Alleles ◽  
Age Related ◽  
A Genome

Age-related macular degeneration (AMD) is a blinding disease for which most of the patients remain untreatable. Since the disease affects the macula at the center of the retina, a structure specific to the primate lineage, rodent models to study the pathophysiology of AMD and to develop therapies are very limited. Consequently, our understanding relies mostly on genetic studies highlighting risk alleles at many loci. We are studying the possible implication of a metabolic imbalance associated with risk alleles within the SLC16A8 gene that encodes for a retinal pigment epithelium (RPE)-specific lactate transporter MCT3 and its consequences for vision. As a first approach, we report here the deficit in transepithelial lactate transport of a rare SLC16A8 allele identified during a genome-wide association study. We produced induced pluripotent stem cells (iPSCs) from the unique patient in our cohort that carries two copies of this allele. After in vitro differentiation of the iPSCs into RPE cells and their characterization, we demonstrate that the rare allele results in the retention of intron 2 of the SLC16A8 gene leading to the absence of MCT3 protein. We show using a biochemical assay that these cells have a deficit in transepithelial lactate transport.

Application of 25-National Eye Institute Visual Function Questionnaire in ophthalmological patients

2020 ◽  
Vol 2 (3) ◽  
pp. 1-8
Author(s):  
Luciano Mesquite Simmo ◽  
Carissa Fouad Ibrahim ◽  
Senice Alvarenga Rodrigues Silva ◽  
Thai Nunes Andrade ◽  
Doora Faleiros Leite ◽  
...  
Keyword(s):  
Visual Function ◽  
Peripheral Vision ◽  
Statistical Significance ◽  
Eye Diseases ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Ischemic Optic Neuropathy ◽  
Age Related ◽  
Visual Function Questionnaire ◽  
The Impact

Objective: To compare the vision-targeted health related quality of life (HRQOL) between neuro-ophthalmological patients and other eye diseases by the National Eye Institute 25-Item Visual Function Questionnaire. Methods: Cross sectional study with a control group and patients with the following pathologies: primary open-angle glaucoma (POAG), diabetic retinopathy (DR), age-related macular degeneration (ARMD), non-arteritic ischemic optic neuropathy (NAION), intracranial hypertension (IH), optic neuritis (ON), ptosis and cataract. Results: All comparisons of the subscales scores among the control group and the patient groups were statistically significant (p<0.05) except for “ocular pain” (p=0.160), “social functioning” (p=0.052) and “peripheral vision” (p=0.112). The control group had the best scores across all dimensions of the NEI VFQ-25. Interestingly, the ARMD and cataract groups presented the best and worst total scores of NEI VFQ-25, respectively. The lowest subscales scores were found in the cataract, in the NAION/ON, and in the POAG groups. Finally, the comparison between the NAION/ON/IH patients and the other eye diseases did not show statistical significance in any subscale. Conclusion: The NEI VFQ-25 showed the impact of various eye conditions in vision-targeted HRQOL, and no difference was measured between neuro-ophthalmological patients and other eye diseases

scholarly journals Posterior segment eye diseases in Ijebu, Southwestern Nigeria

2018 ◽  
Vol 6 (1) ◽  
pp. 8
Author(s):  
Tayo Julius Bogunjoko ◽  
Adekunle O. Hassan ◽  
Adunola Ogunro ◽  
Toyin Akanbi ◽  
Bidemi Abudu
Keyword(s):  
Diabetic Retinopathy ◽  
Posterior Segment ◽  
Eye Diseases ◽  
Age Related Macular Degeneration ◽  
Systematic Sampling ◽  
Slit Lamp ◽  
Central Visual Field ◽  
Southwestern Nigeria ◽  
Ogun State ◽  
Age Related

Background: To review cases of posterior segment eye diseases (PSEDs) seen at the Eye Foundation Centre Ijebu, Nigeria in a 5 year period for planning purposes.Methods: Data was collected from patients’ case notes from January 2006 to December 2011. A systematic sampling of 468 patients from 1173 case notes of patient with (PSEDs) was done. Information retrieved was: age, sex, state of residence and diagnosis. All patients were examined by the glaucoma and the vitroretinal specialist as the case may be. They had visual acuity, refraction, slit lamp examination (including intraocular pressure (IOP) with Goldman applanation tonometer), and dilated fundoscopy with (bilateral indirect ophthalmoscopy) BIO, slit lamp using 20 D, 78 D and 90 D respectively. The glaucoma patients in addition had central visual field (CVF), Central cornea thickness (CCT), fundus photograph and in some cases optical coherence tomography (OCT) done in addition to the above.Results: The mean age was 59.98 years (SD 17.67) and the age range is 5-95 years. Males outnumbered females by 63% to 37%. The diseases were more common in age group 61 to 80. Patients’ attendances were mostly from Ijebu division of Ogun state (57%). Glaucoma is the commonest cause of attendance 262 (56%) followed by diabetic retinopathy 29 (6.2%) and age-related macular degeneration (ARMD) 28 (6.0%).Conclusions: Glaucoma, diabetic retinopathy and ARMD were noted as the commonest PSEDs in Ijebu division in Southwestern Nigeria.

scholarly journals Inhibition of APE1/Ref-1 for Neovascular Eye Diseases: From Biology to Therapy

2021 ◽  
Vol 22 (19) ◽  
pp. 10279
Author(s):  
Gabriella D. Hartman ◽  
Nathan A. Lambert-Cheatham ◽  
Mark R. Kelley ◽  
Timothy W. Corson
Keyword(s):  
Vision Loss ◽  
Eye Diseases ◽  
Age Related Macular Degeneration ◽  
Neuroprotective Effects ◽  
Multifunctional Protein ◽  
Age Related ◽  
Transcription Factor Activation ◽  
Molecule Inhibitor ◽  
Orally Bioavailable ◽  
Endothelial Growth Factor

Proliferative diabetic retinopathy (PDR), neovascular age-related macular degeneration (nvAMD), retinopathy of prematurity (ROP) and other eye diseases are characterized by retinal and/or choroidal neovascularization, ultimately causing vision loss in millions of people worldwide. nvAMD and PDR are associated with aging and the number of those affected is expected to increase as the global median age and life expectancy continue to rise. With this increase in prevalence, the development of novel, orally bioavailable therapies for neovascular eye diseases that target multiple pathways is critical, since current anti-vascular endothelial growth factor (VEGF) treatments, delivered by intravitreal injection, are accompanied with tachyphylaxis, a high treatment burden and risk of complications. One potential target is apurinic/apyrimidinic endonuclease 1/reduction-oxidation factor 1 (APE1/Ref-1). The multifunctional protein APE1/Ref-1 may be targeted via inhibitors of its redox-regulating transcription factor activation activity to modulate angiogenesis, inflammation, oxidative stress response and cell cycle in neovascular eye disease; these inhibitors also have neuroprotective effects in other tissues. An APE1/Ref-1 small molecule inhibitor is already in clinical trials for cancer, PDR and diabetic macular edema. Efforts to develop further inhibitors are underway. APE1/Ref-1 is a novel candidate for therapeutically targeting neovascular eye diseases and alleviating the burden associated with anti-VEGF intravitreal injections.

scholarly journals Therapeutic effect of Keap1-Nrf2-ARE pathway-related drugs on age-related eye diseases through anti-oxidative stress

2021 ◽  
Vol 14 (8) ◽  
pp. 1260-1273
Author(s):  
Zi-Yan Cai ◽  
◽  
Ke Liu ◽  
Xuan-Chu Duan ◽  
◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Vision Loss ◽  
Eye Diseases ◽  
The Body ◽  
Age Related Macular Degeneration ◽  
Therapeutic Effects ◽  
Related Factor ◽  
Classical Pathway ◽  
Age Related ◽  
Important Relationship

Age-related eye diseases, including cataract, glaucoma, diabetic retinopathy (DR), and age-related macular degeneration (AMD), are the leading causes of vision loss in the world. Several studies have shown that the occurrence and development of these diseases have an important relationship with oxidative stress in the eye. The Keap1-Nrf2-ARE pathway is a classical pathway that resists oxidative stress and inflammation in the body. This pathway is also active in the development of age-related eye diseases. A variety of drugs have been shown to treat age-related eye diseases through the Keap1-Nrf2-ARE (Kelch-like ECH-Associating protein 1- nuclear factor erythroid 2 related factor 2-antioxidant response element) pathway. This review describes the role of oxidative stress in the development of age-related eye diseases, the function and regulation of the Keap1-Nrf2-ARE pathway, and the therapeutic effects of drugs associated with this pathway on age-related eye diseases.

scholarly journals Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine

2018 ◽  
Vol 2018 ◽  
pp. 1-13 ◽  
Author(s):  
Andrea Maugeri ◽  
Martina Barchitta ◽  
Maria Grazia Mazzone ◽  
Francesco Giuliano ◽  
Antonella Agodi
Keyword(s):  
Public Health ◽  
Personalized Medicine ◽  
Macular Degeneration ◽  
Complement System ◽  
Genetic Variants ◽  
Age Related Macular Degeneration ◽  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Age Related ◽  
Gene Environment

Age-related macular degeneration (AMD) is the most common cause of visual loss in developed countries, with a significant economic and social burden on public health. Although genome-wide and gene-candidate studies have been enabled to identify genetic variants in the complement system associated with AMD pathogenesis, the effect of gene-environment interaction is still under debate. In this review we provide an overview of the role of complement system and its genetic variants in AMD, summarizing the consequences of the interaction between genetic and environmental risk factors on AMD onset, progression, and therapeutic response. Finally, we discuss the perspectives of current evidence in the field of genomics driven personalized medicine and public health.

Intraocular exosomes in eye diseases

2021 ◽  
Vol 21 ◽  
Author(s):  
Hui Zhang ◽  
Xiaomin Zhang ◽  
Xiaorong Li
Keyword(s):  
Messenger Rna ◽  
Biological Fluids ◽  
Eye Diseases ◽  
Age Related Macular Degeneration ◽  
Pathological State ◽  
Barrier Dysfunction ◽  
Blood Retinal Barrier ◽  
Ecm Remodeling ◽  
Age Related ◽  
Eye Tissues

: Exosomes, nanosized extracellular vesicles with a size of 30–150nm, contain many biological materials, such as messenger RNA (mRNA), microRNA (miRNA), proteins, and transcription factors. It has been identified in all biological fluids and recognized as an important part of intercellular communication. While the role of exosomes in cancer has been studied in-depth, our understanding of their relevance for ocular tissues has just begun to evolve. Intraocular fluids, including aqueous humor and vitreous humor, play a role in nourishing eye tissues and in expelling metabolites. In the pathological state, intraocular exosomes can mediate pathological processes such as ECM remodeling, retinal inflammation, and blood-retinal barrier dysfunction. Herein, we reviewed the latest advances of intraocular exosomes in the research of several eye diseases, including glaucoma, age-related macular degeneration, myopia, and ocular tumors, and discuss how intraocular exosomes contribute to the pathogenesis and progression of multiple eye diseases.

An enhanced OCT image captioning system to assist ophthalmologists in detecting and classifying eye diseases

2020 ◽  
Vol 28 (5) ◽  
pp. 975-988
Author(s):  
Sivamurugan Vellakani ◽  
Indumathi Pushbam
Keyword(s):  
Short Term Memory ◽  
Clinical Decision ◽  
True Positive Rate ◽  
Eye Diseases ◽  
Age Related Macular Degeneration ◽  
Superior Performance ◽  
Image Captioning ◽  
Generative Adversarial Network ◽  
Adversarial Network ◽  
Age Related

Human eye is affected by the different eye diseases including choroidal neovascularization (CNV), diabetic macular edema (DME) and age-related macular degeneration (AMD). This work aims to design an artificial intelligence (AI) based clinical decision support system for eye disease detection and classification to assist the ophthalmologists more effectively detecting and classifying CNV, DME and drusen by using the Optical Coherence Tomography (OCT) images depicting different tissues. The methodology used for designing this system involves different deep learning convolutional neural network (CNN) models and long short-term memory networks (LSTM). The best image captioning model is selected after performance analysis by comparing nine different image captioning systems for assisting ophthalmologists to detect and classify eye diseases. The quantitative data analysis results obtained for the image captioning models designed using DenseNet201 with LSTM have superior performance in terms of overall accuracy of 0.969, positive predictive value of 0.972 and true-positive rate of 0.969using OCT images enhanced by the generative adversarial network (GAN). The corresponding performance values for the Xception with LSTM image captioning models are 0.969, 0.969 and 0.938, respectively. Thus, these two models yield superior performance and have potential to assist ophthalmologists in making optimal diagnostic decision.

scholarly journals Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

2019 ◽  
Vol 2 (1) ◽  
Author(s):  
Yoshikatsu Hosoda ◽  
Masahiro Miyake ◽  
Rosa L. Schellevis ◽  
Camiel J. F. Boon ◽  
Carel B. Hoyng ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Central Serous Chorioretinopathy ◽  
Genome Wide Association Study ◽  
Risk Allele ◽  
Age Related Macular Degeneration ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Association Analyses ◽  
Age Related ◽  
Genome Wide

AbstractThe recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P = 1.26 × 10−13; rs6061548, odds ratio = 1.63, P = 5.36 × 10−15). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD.

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