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https://www.readbyqxmd.com/read/29238604/novel-pax6-mutation-reported-in-an-aniridia-patient
#1
Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida
An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29152454/recent-advances-in-retinal-stem-cell-therapy
#2
Sujoy Bhattacharya, Rajashekhar Gangaraju, Edward Chaum
Purpose of review: Progress in stem cell research for blinding diseases over the past decade is now being applied to patients with retinal degenerative diseases and soon perhaps, glaucoma. However, the field still has much to learn about the conversion of stem cells into various retinal cell types, and the potential delivery methods that will be required to optimize the clinical efficacy of stem cells delivered into the eye. Recent findings: Recent groundbreaking human clinical trials have demonstrated both the opportunities and current limitations of stem cell transplantation for retinal diseases...
September 2017: Current Molecular Biology Reports
https://www.readbyqxmd.com/read/29113466/perspectives-of-stem-cell-based-therapy-for-age-related-retinal-degenerative-diseases
#3
Vladimir Holan, Barbora Hermankova, Jan Kossl
Retinal degenerative diseases, which include age-related macular degeneration, retinitis pigmentosa, diabetic retinopathy, and glaucoma, mostly affect the elderly population and are the most common cause of decreased quality of vision or even blindness. So far, there is no satisfactory treatment protocol to prevent, stop, or cure these disorders. A great hope and promise for patients suffering from retinal diseases is represented by stem cell-based therapy that could replace diseased or missing retinal cells and support regeneration...
September 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29061512/injectable-hydrogels-for-ophthalmic-applications
#4
REVIEW
Kai Wang, Zongchao Han
The demand for effective eye therapies is driving the development of injectable hydrogels as new medical devices for controlled delivery and filling purposes. This article introduces the properties of injectable hydrogels and summarizes their versatile application in the treatment of ophthalmic diseases, including age-related macular degeneration, cataracts, diabetic retinopathy, glaucoma, and intraocular cancers. A number of injectable hydrogels are approved by FDA as surgery sealants, tissue adhesives, and are now being investigated as a vitreous humor substitute...
October 20, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29044808/neuroprotective-effects-of-human-mesenchymal-stem-cells-and-platelet-derived-growth-factor-on-human-retinal-ganglion-cells
#5
Andrew Osborne, Julie Sanderson, Keith R Martin
Optic neuropathies such as glaucoma occur when retinal ganglion cells (RGCs) in the eye are injured. Strong evidence suggests mesenchymal stem cells (MSCs) could be a potential therapy to protect RGCs, however little is known regarding their effect on the human retina. We, therefore, investigated if human MSCs (hMSCs), or platelet-derived growth factor (PDGF) as produced by hMSC, could delay RGC death in a human retinal explant model of optic nerve injury. Our results showed hMSCs and the secreted growth factor PDGF-AB could substantially reduce human RGC loss and apoptosis following axotomy...
October 17, 2017: Stem Cells
https://www.readbyqxmd.com/read/28990998/intermediate-term-and-long-term-outcomes-with-the-boston-type-1-keratoprosthesis-in-aniridia
#6
Kevin J Shah, Albert Y Cheung, Edward J Holland
PURPOSE: To report the intermediate- and long-term visual outcomes and complications with the Boston type 1 keratoprosthesis (KPro) for the management of aniridic keratopathy. METHODS: A retrospective chart review of 46 eyes of 34 patients (20 females and 14 males) with aniridic keratopathy who underwent Boston type 1 KPro surgery by a single surgeon from 2004 to 2012 with minimum 2-year follow-up was conducted. Preoperative, intraoperative, and postoperative parameters were collected and analyzed...
October 5, 2017: Cornea
https://www.readbyqxmd.com/read/28979193/intraocular-injection-of-es-cell-derived-neural-progenitors-improve-visual-function-in-retinal-ganglion-cell-depleted-mouse-models
#7
Mundackal S Divya, Vazhanthodi A Rasheed, Tiffany Schmidt, Soundararajan Lalitha, Samer Hattar, Jackson James
Retinal ganglion cell (RGC) transplantation is a promising strategy to restore visual function resulting from irreversible RGC degeneration occurring in glaucoma or inherited optic neuropathies. We previously demonstrated FGF2 induced differentiation of mouse embryonic stem cells (ESC) to RGC lineage, capable of retinal ganglion cell layer (GCL) integration upon transplantation. Here, we evaluated possible improvement of visual function by transplantation of ES cell derived neural progenitors in RGC depleted glaucoma mice models...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28930148/elongation-of-axon-extension-for-human-ipsc-derived-retinal-ganglion-cells-by-a-nano-imprinted-scaffold
#8
Tien-Chun Yang, Jen-Hua Chuang, Waradee Buddhakosai, Wen-Ju Wu, Chen-Ju Lee, Wun-Syuan Chen, Yi-Ping Yang, Ming-Chia Li, Chi-Hsien Peng, Shih-Jen Chen
Optic neuropathies, such as glaucoma and Leber's hereditary optic neuropathy (LHON) lead to retinal ganglion cell (RGC) loss and therefore motivate the application of transplantation technique into disease therapy. However, it is a challenge to direct the transplanted optic nerve axons to the correct location of the retina. The use of appropriate scaffold can promote the proper axon growth. Recently, biocompatible materials have been integrated into the medical field, such as tissue engineering and reconstruction of damaged tissues or organs...
September 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28928631/glaucoma-biological-trabecular-and-neuroretinal-pathology-with-perspectives-of-therapy-innovation-and-preventive-diagnosis
#9
REVIEW
Raffaele Nuzzi, Federico Tridico
Glaucoma is a common degenerative disease affecting retinal ganglion cells (RGC) and optic nerve axons, with progressive and chronic course. It is one of the most important reasons of social blindness in industrialized countries. Glaucoma can lead to the development of irreversible visual field loss, if not treated. Diagnosis may be difficult due to lack of symptoms in early stages of disease. In many cases, when patients arrive at clinical evaluation, a severe neuronal damage may have already occurred. In recent years, newer perspective in glaucoma treatment have emerged...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28906020/diagnostic-impact-of-anterior-segment-angiography-of-limbal-stem-cell-insufficiency-in-pax6-related-aniridia
#10
Barbara Käsmann-Kellner, Lorenz Latta, Fabian Fries, Arne Viestenz, Berthold Seitz
BACKGROUND: PAX6 is a master gene of ocular development and postnatal ocular equilibrium. Congenital aniridia is the hallmark of PAX6 gene haploinsufficiency (Chr. 11 p. 13), but PAX6-associated aniridia is a profound, progressive pan-ocular developmental disorder often leading to blindness. Limbal stem cell insufficiency and corneal findings in PAX6 syndrome: There is congenital visual impairment with advancing loss of vision mainly due to secondary glaucoma and to corneal blindness caused by limbal stem cell insufficiency (LSCI)...
September 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28860936/stem-cells-in-regenerative-medicine-from-laboratory-to-clinical-application-the-eye
#11
REVIEW
Anna M Dąbrowska, Piotr Skopiński
Stem cells are currently one of the most researched and explored subject in science. They consstitue a very promising part of regenerative medicine and have many potential clinical applications. Harnessing their ability to replicate and differentiate into many cell types can enable successful treatment of diseases that were incurable until now. There are numerous types of stem cells (e.g. ESCs, FSCs, ASCs, iPSCs) and many different methods of deriving and cultivating them in order to obtain viable material...
2017: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/28852381/soxc-transcription-factors-in-retinal-development-and-regeneration
#12
REVIEW
Kun-Che Chang, Jonathan Hertz
Glaucoma and other optic neuropathies result in optic nerve degeneration and the loss of retinal ganglion cells (RGCs) through complex signaling pathways. Although the mechanisms that regulate RGC development remain unclear, uncovering novel developmental pathways may support new strategies to regenerate the optic nerve or replace RGCs. Here we review recent studies that provide strong evidence that the Sry-related high-mobility-group C (SoxC) subfamily of transcription factors (TFs) are necessary and sufficient for axon guidance and RGC fate specification...
July 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28844129/glaucoma-stem-cells-and-gene-therapy-where-are-we-now
#13
REVIEW
Karim Daliri, Alexander V Ljubimov, Seyedhossein Hekmatimoghaddam
Glaucoma is the second most common cause of blindness, affecting 70~80 million people around the world. The death of retinal ganglion cells (RGCs) is the main cause of blindness related to this disease. Current therapies do not provide enough protection and regeneration of RGCs. A novel opportunity for treatment of glaucoma is application of technologies related to stem cell and gene therapy. In this perspective we will thus focus on emerging approaches to glaucoma treatment including stem cells and gene therapy...
August 31, 2017: International Journal of Stem Cells
https://www.readbyqxmd.com/read/28792678/modeling-glaucoma-retinal-ganglion-cells-generated-from-induced-pluripotent-stem-cells-of-patients-with-six6-risk-allele-show-developmental-abnormalities
#14
Pooja Teotia, Matthew J Van Hook, Christopher S Wichman, R Rand Allingham, Michael A Hauser, Iqbal Ahmad
Glaucoma represents a group of multifactorial diseases with a unifying pathology of progressive retinal ganglion cell (RGC) degeneration, causing irreversible vision loss. To test the hypothesis that RGCs are intrinsically vulnerable in glaucoma, we have developed an in vitro model using the SIX6 risk allele carrying glaucoma patient-specific induced pluripotent stem cells (iPSCs) for generating functional RGCs. Here, we demonstrate that the efficiency of RGC generation by SIX6 risk allele iPSCs is significantly lower than iPSCs-derived from healthy, age- and sex-matched controls...
November 2017: Stem Cells
https://www.readbyqxmd.com/read/28731936/case-series-keratolimbal-allograft-as-a-patch-graft-for-glaucoma-drainage-devices
#15
Sarah F Ahmed, Mason Schmutz, Sameh Mosaed
PURPOSE: Tube exposure remains one of the most common complications after glaucoma drainage device (GDD) implantation, despite various types of patch grafts available today. We present a 4 patient case series following the effectivity of the keratolimbal allograft (KLAL) as a patch graft for cases of tube exposure. Given its inherent population of stem cells, our hypothesis was that this highly replicative, biological tissue would provide an adequate means of glaucoma tube coverage. The subset of patients chosen for the KLAL patch graft all had a history of abnormally scarred conjunctiva or thin sclera...
September 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28683480/-penetrating-limbokeratoplasty-for-gelatinous-corneal-dystrophy
#16
Stefan J Lang, Daniel Böhringer, Thomas Reinhard
Background Gelatinous corneal dystrophy is a very rare disease in Europe and North America. Patients suffer from pain, photophobia and loss of vision, usually before the age of 20. Transplantation of limbal stem cells was proposed due to the high rate of recurrence after conventional penetrating keratoplasty. We present the results of penetrating limbokeratoplasty, a combined transplantation of cornea and limbal stem cells, in patients with gelatinous corneal dystrophy. Methods We present a series of 7 consecutive eyes with gelatinous corneal dystrophy, which were treated with penetrating limbokeratoplasty-4 eyes of 3 patients had already undergone multiple conventional corneal transplantations...
July 6, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28668352/the-chick-eye-in-vision-research-an-excellent-model-for-the-study-of-ocular-disease
#17
REVIEW
C Ellis Wisely, Javed A Sayed, Heather Tamez, Chris Zelinka, Mohamed H Abdel-Rahman, Andy J Fischer, Colleen M Cebulla
The domestic chicken, Gallus gallus, serves as an excellent model for the study of a wide range of ocular diseases and conditions. The purpose of this manuscript is to outline some anatomic, physiologic, and genetic features of this organism as a robust animal model for vision research, particularly for modeling human retinal disease. Advantages include a sequenced genome, a large eye, relative ease of handling and maintenance, and ready availability. Relevant similarities and differences to humans are highlighted for ocular structures as well as for general physiologic processes...
November 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28660235/a-co-culture-model-for-determining-the-target-specificity-of-the-de-novo-generated-retinal-ganglion-cells
#18
Pooja Teotia, Matthew J Van Hook, Iqbal Ahmad
In glaucoma, the output neurons of the retina, the retinal ganglion cells (RGCs), progressively degenerate, leading to irreversible blindness (Ahram et al., 2015). The ex vivo stem cell method to replace degenerated RGCs remains a potentially viable approach (Levin et al., 2004). However, the success of the approach depends upon the ability of the de novo generated RGCs to connect over the long distance with specific targets in the central visual pathway. Here, we describe a protocol to examine the target specificity of the de novo generated RGCs using a co-culture approach where the RGCs neurites are allowed to choose between specific (superior colliculus; SC) and non-specific (inferior colliculus; IC) tectal targets...
April 5, 2017: Bio-protocol
https://www.readbyqxmd.com/read/28655163/microrna-21a-5p-pdcd4-axis-regulates-mesenchymal-stem-cell-induced-neuroprotection-in-acute-glaucoma
#19
Wenru Su, Zuohong Li, Y Jia, Yingting Zhu, Wenjia Cai, Peixing Wan, Yingying Zhang, Song Guo Zheng, Yehong Zhuo
Mesenchymal stem cells (MSCs) have been demonstrated to have promising therapeutic benefits for a variety of neurological diseases; however, the underlying mechanisms are poorly understood. Here, we showed that intravitreal infusion of MSCs promoted retinal ganglion cell (RGC) survival in a mouse model of acute glaucoma, with significant inhibition of microglial activation, production of TNF-α, IL-1β, and reactive oxygen species, as well as caspase-8 and caspase-3 activation. In vitro, MSCs inhibited both caspase-8-mediated RGC apoptosis and microglial activation, partly via the action of stanniocalcin 1 (STC1)...
August 1, 2017: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/28643176/a-promising-tool-in-retina-regeneration-current-perspectives-and-challenges-when-using-mesenchymal-progenitor-stem-cells-in-veterinary-and-human-ophthalmological-applications
#20
REVIEW
Anna Cislo-Pakuluk, Krzysztof Marycz
Visual impairment is a common ailment of the current world population, with more exposure to CCD screens and fluorescent lighting, approximately 285 billion people suffer from this deficiency and 13% of those are considered clinically blind. More common causes for visual impairment include age-related macular degeneration (AMD), glaucoma and diabetic retinopathy (Zhu et al. Molecular Medicine Reports, 2015; Kolb et al. 2007; Machalińska et al. Current Eye Research, 34(9),748-760, 2009) among a few. As cases of retinal and optic nerve diseases rise, it is vital to find a treatment, which has led to investigation of the therapeutic potential of various stem cells types (Bull et al...
October 2017: Stem Cell Reviews
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