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https://www.readbyqxmd.com/read/29786086/the-effect-of-autoimmune-retinopathy-on-retinal-vessel-oxygen-saturation
#1
Maria Waizel, Cengiz Türksever, Margarita G Todorova
PURPOSE: To study the retinal vessel oxygen saturation alterations in patients with autoimmune retinopathy (AIR) and patients with autoimmune retinopathy associated with retinitis pigmentosa (AIR-RP) in comparison with healthy controls and patients with isolated retinitis pigmentosa (RP). DESIGN: Prospective, cross-sectional, and non-interventional study. SUBJECTS: Retinal vessel oximetry (RO) was performed on a total of 139 eyes: six eyes suffering from AIR and four eyes with AIR-RP were compared to 59 healthy control eyes and to 70 eyes with RP...
May 22, 2018: Eye
https://www.readbyqxmd.com/read/29785639/development-of-a-molecular-diagnostic-test-for-retinitis-pigmentosa-in-the-japanese-population
#2
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785323/coexistence-of-urticaria-pigmentosa-and-thalassemia-minor-in-a-young-adult
#3
Funda Tamer, Haldun Umudum
No abstract text is available yet for this article.
April 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29784939/automatic-cone-photoreceptor-localisation-in-healthy-and-stargardt-afflicted-retinas-using-deep-learning
#4
Benjamin Davidson, Angelos Kalitzeos, Joseph Carroll, Alfredo Dubra, Sebastien Ourselin, Michel Michaelides, Christos Bergeles
We present a robust deep learning framework for the automatic localisation of cone photoreceptor cells in Adaptive Optics Scanning Light Ophthalmoscope (AOSLO) split-detection images. Monitoring cone photoreceptors with AOSLO imaging grants an excellent view into retinal structure and health, provides new perspectives into well known pathologies, and allows clinicians to monitor the effectiveness of experimental treatments. The MultiDimensional Recurrent Neural Network (MDRNN) approach developed in this paper is the first method capable of reliably and automatically identifying cones in both healthy retinas and retinas afflicted with Stargardt disease...
May 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29784186/unilateral-retinitis-pigmentosa-clinical-and-electrophysiological-diagnosis
#5
Pritam Bawankar, Hemalata Deka, Manabjyoti Barman, Harsha Bhattacharjee, Ronel Soibam
No abstract text is available yet for this article.
June 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29781741/slowly-progressive-retinitis-pigmentosa-caused-by-two-novel-mutations-in-the-mak-gene
#6
Joanna Monika Gray, Harry Otway Orlans, Morag Shanks, Penny Clouston, Robert Elvis MacLaren
BACKGROUND: The growing number of clinical trials currently underway for inherited retinal diseases has highlighted the importance of achieving a molecular diagnosis for all new cases presenting to hospital eye services. The male germ cell-associated kinase (MAK) gene encodes a cilium-associated protein selectively expressed in the retina and testis, and has recently been implicated in autosomal recessive retinitis pigmentosa (RP). Whole exome sequencing has previously identified a homozygous Alu insertion in probands with recessive RP and nonsense and missense mutations have also been reported...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#7
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29777677/usherin-defects-lead-to-early-onset-retinal-dysfunction-in-zebrafish
#8
Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2armc1 : c...
May 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29773803/a-novel-small-molecule-chaperone-of-rod-opsin-and-its-potential-therapy-for-retinal-degeneration
#9
Yuanyuan Chen, Yu Chen, Beata Jastrzebska, Marcin Golczak, Sahil Gulati, Hong Tang, William Seibel, Xiaoyu Li, Hui Jin, Yong Han, Songqi Gao, Jianye Zhang, Xujie Liu, Hossein Heidari-Torkabadi, Phoebe L Stewart, William E Harte, Gregory P Tochtrop, Krzysztof Palczewski
Rhodopsin homeostasis is tightly coupled to rod photoreceptor cell survival and vision. Mutations resulting in the misfolding of rhodopsin can lead to autosomal dominant retinitis pigmentosa (adRP), a progressive retinal degeneration that currently is untreatable. Using a cell-based high-throughput screen (HTS) to identify small molecules that can stabilize the P23H-opsin mutant, which causes most cases of adRP, we identified a novel pharmacological chaperone of rod photoreceptor opsin, YC-001. As a non-retinoid molecule, YC-001 demonstrates micromolar potency and efficacy greater than 9-cis-retinal with lower cytotoxicity...
May 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29761029/treatment-of-prurigo-pigmentosa-with-diet-modification-a-medical-case-study
#10
Miki Wong Maco, Erica Lee, Yolanda Wu, Ryan Lee
Prurigo pigmentosa is a rare inflammatory dermatitis first described in 1971. While the etiology of Prurigo pigmentosa is yet unknown, conditions associated with ketosis often accompany this rash. Prurigo pigmentosa is successfully treated with antibiotics and by resolution of ketosis. However, there is no dietary treatment option to successfully treat the rash without sacrificing ketosis. We report two cases successfully treated with increase of dietary carbohydrate intake. The second case suggests that cessation of ketosis may not be necessary to resolve Prurigo pigmentosa...
May 2018: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/29759820/clustered-regularly-interspaced-short-palindromic-repeats-based-genome-surgery-for-the-treatment-of-autosomal-dominant-retinitis-pigmentosa
#11
Yi-Ting Tsai, Wen-Hsuan Wu, Ting-Ting Lee, Wei-Pu Wu, Christine L Xu, Karen S Park, Xuan Cui, Sally Justus, Chyuan-Sheng Lin, Ruben Jauregui, Pei-Yin Su, Stephen H Tsang
PURPOSE: To develop a universal gene therapy to overcome the genetic heterogeneity in retinitis pigmentosa (RP) resulting from mutations in rhodopsin (RHO). DESIGN: Experimental study for a combination gene therapy that uses both gene ablation and gene replacement. PARTICIPANTS: This study included 2 kinds of human RHO mutation knock-in mouse models: RhoP23H and RhoD190N . In total, 23 RhoP23H/P23H , 43 RhoP23H/+ , and 31 RhoD190N/+ mice were used for analysis...
May 5, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29757338/automated-segmentation-of-the-choroid-in-edi-oct-images-with-retinal-pathology-using-convolution-neural-networks
#12
Min Chen, Jiancong Wang, Ipek Oguz, Brian L VanderBeek, James C Gee
The choroid plays a critical role in maintaining the portions of the eye responsible for vision. Specific alterations in the choroid have been associated with several disease states, including age-related macular degeneration (AMD), central serous choroiretinopathy, retinitis pigmentosa and diabetes. In addition, choroid thickness measures have been shown as a predictive biomarker for treatment response and visual function. Where several approaches currently exist for segmenting the choroid in optical coherence tomography (OCT) images of healthy retina, very few are capable of addressing images with retinal pathology...
September 2017: Fetal, infant and ophthalmic medical image analysis: International Workshop, FIFI 2017, and 4th International Workshop, OMIA 2017, held in conjunction with MICCAI 2017, Québec City, QC, Canada, September 14, Proceedings
https://www.readbyqxmd.com/read/29754775/in-situ-gene-therapy-via-aav-crispr-cas9-mediated-targeted-gene-regulation
#13
Ana M Moreno, Xin Fu, Jie Zhu, Dhruva Katrekar, Yu-Ru V Shih, John Marlett, Jessica Cabotaje, Jasmine Tat, John Naughton, Leszek Lisowski, Shyni Varghese, Kang Zhang, Prashant Mali
Development of efficacious in vivo delivery platforms for CRISPR-Cas9-based epigenome engineering will be critical to enable the ability to target human diseases without permanent modification of the genome. Toward this, we utilized split-Cas9 systems to develop a modular adeno-associated viral (AAV) vector platform for CRISPR-Cas9 delivery to enable the full spectrum of targeted in situ gene regulation functionalities, demonstrating robust transcriptional repression (up to 80%) and activation (up to 6-fold) of target genes in cell culture and mice...
April 25, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29753273/generation-of-an-induced-pluripotent-stem-cell-line-from-a-patient-with-non-syndromic-cln3-associated-retinal-degeneration-and-a-coisogenic-control-line
#14
Xiao Zhang, Dan Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A Thompson, Terri McLaren, John N De Roach, Fred K Chen, Samuel McLenachan
We report the generation of the human iPSC line LEIi004-A from a patient with late-onset non-syndromic retinitis pigmentosa caused by compound heterozygous mutations in the CLN3 gene. Reprogramming of primary dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA. To create a coisogenic control line, one CLN3 variant was corrected in the patient-iPSC using CRISPR/Cas9 gene editing to generate the iPSC line LEIi004-A-1.
May 1, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29749994/simultaneous-presence-of-macular-corneal-dystrophy-and-retinitis-pigmentosa-in-three-members-of-a-family
#15
Farhad Nejat, Hossein Aghamollaei, Shiva Pirhadi, Khosrow Jadidi, Mohammad Amin Nejat
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implicated in different forms of RP. Herein, we report on a 9-member family with 2 girls and 5 boys. Both parents, one of the girls and one of the boys had normal eye vision and another boy had keratoconus...
March 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29744916/human-organotypic-retinal-flat-mount-culture-horfc-as-a-model-for-retinitis-pigmentosa11
#16
Leila Azizzadeh Pormehr, Narsis Daftarian, Shahin Ahmadian, Mozhgan Rezaei Kanavi, Hamid Ahmadieh, Mahshid Shafiezadeh
The splicing factor PRPF31 is the most commonly mutated general splicing factor in the retinitis pigmentosa. We used a rapid, convenient and cost effective transfection method with an efficient PRPF31 knockdown in HORFC in order to study the effect of PRPF31 downregulation on retinal gene expressions in an ex vivo model. Modified calcium phosphate method was used to transfect HORFC by PRPF31 siRNA. Different times and doses of siRNA for transfection were assayed and optimum condition was obtained. PRPF31 mRNA and protein downregulation were assessed by qRTPCR and Western blot...
May 10, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29742163/tissue-inhibitor-of-metalloproteinases-1-enhances-rod-survival-in-the-rd1-mouse-retina
#17
Hwa Sun Kim, Andrew Vargas, Yun Sung Eom, Justin Li, Kyra L Yamamoto, Cheryl Mae Craft, Eun-Jin Lee
Retinitis pigmentosa (RP), an inherited retinal degenerative disease, is characterized by a progressive loss of rod photoreceptors followed by loss of cone photoreceptors. Previously, when tissue inhibitor of metalloproteinase 1 (TIMP1), a key extracellular matrix (ECM) regulator that binds to and inhibits activation of Matrix metallopeptidase 9 (MMP9) was intravitreal injected into eyes of a transgenic rhodopsin rat model of RP, S334ter-line3, we discovered cone outer segments are partially protected. In parallel, we reported that a specific MMP9 and MMP2 inhibitor, SB-3CT, interferes with mechanisms leading to rod photoreceptor cell death in an MMP9 dependent manner...
2018: PloS One
https://www.readbyqxmd.com/read/29732542/homocarnosinosis-a-historical-update-and-findings-in-the-spg11-gene
#18
O Sjaastad, N Blau, S L Rydning, V Peters, O Rødningen, A Stray-Pedersen, B Krossnes, C Tallaksen, J Koht
OBJECTIVES: A family with homocarnosinosis was reported in the literature in 1976. Three affected siblings had spastic paraplegia, retinitis pigmentosa, mental retardation, and cerebrospinal fluid (CSF) homocarnosine concentrations 20 times higher than in controls. Based on the clinical findings and new genetic techniques, we have been able to establish a precise genetic diagnosis. METHOD: The medical records were re-evaluated, and genetic analyses were performed post-mortem in this original family...
May 6, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29726989/a-splicing-mutation-in-aryl-hydrocarbon-receptor-associated-with-retinitis-pigmentosa
#19
Yu Zhou, Shijin Li, Lulin Huang, Yeming Yang, Lin Zhang, Mu Yang, Wenjing Liu, Kim Ramasamy, Zhilin Jiang, Periasamy Sundaresan, Xianjun Zhu, Zhenglin Yang
Retinitis pigmentosa (RP) refers to a group of retinal degenerative diseases, which often lead to vision loss. Although 70 genes have been identified in RP patients, the genetic cause of approximately 30% of RP cases remains unknown. We aimed to identify the cause of the disease in a cohort of RP families by whole exome sequencing. A rare homozygous splicing variant, c.1160 + 1G>A, which introduced skipping of exon 9 of the aryl hydrocarbon receptor (AHR), was identified in family RD-134. This variant is very rare in several exome databases and leads to skipping of exon 9 in the transcript...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29721995/the-ipsc-derived-retinal-tissue-as-a-tool-to-study-growth-factor-production-in-the-eye
#20
Maryam Alavi, Petr Baranov
Traumatic, inherited, and age-related degenerative diseases of the retina, such as retinal detachment, glaucoma, retinitis pigmentosa, and age-related macular degeneration, are characterized by the irreversible loss of retinal neurons. Several growth factors, including glial cell-derived neurotrophic factor and pigment epithelium-derived factor, have been shown to rescue retinal neurons in animal models of retinal disease. Here we describe a scalable and robust system to study the growth factor induction in the retina: retinal organoids derived from the induced pluripotent stem cells...
2018: Advances in Experimental Medicine and Biology
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