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corneal macular dystrophy

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https://www.readbyqxmd.com/read/29749994/simultaneous-presence-of-macular-corneal-dystrophy-and-retinitis-pigmentosa-in-three-members-of-a-family
#1
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/29748945/causes-of-low-vision-and-blindness-in-a-turkish-adult-population-the-izmir-eye-study
#2
Feray Koç, Veysi Erden, Nazife Sefi-Yurdakul
Background: Data from Turkey show that sense organ diseases were the second leading cause of years lost due to disability in 2015. However, there are no reliable data on either the baseline causative disorders of visual impairment or the burden of these disorders on the population in Izmir region. Izmir is the third most populated city of Turkey with a population of approximately 4.2 million. Aim: The purpose of this study was to define the baseline disorders causing low vision and blindness in accordance with World Health Organization criteria in an adult population in Izmir...
May 3, 2018: Eastern Mediterranean Health Journal, la Revue de Santé de la Méditerranée Orientale
https://www.readbyqxmd.com/read/29738436/paper-based-microfluidic-platforms-for-understanding-the-role-of-exosomes-in-the-pathogenesis-of-major-blindness-threatening-diseases
#3
Min-Yen Hsu, Chun-Chih Chiu, Juan-Yuan Wang, Chin-Te Huang, Yu-Fang Huang, Jyh-Cheng Liou, Chihchen Chen, Hung-Chi Chen, Chao-Min Cheng
Emerging roles of exosomes in the pathogenesis of major blindness-threatening diseases, such as age-related macular degeneration, glaucoma, and corneal dystrophy, were discovered by aqueous humor analysis. A new diagnostic method using cellulose-based devices and microfluidic chip techniques for the isolation of exosomes from aqueous humor is less cumbersome and saves time. This method will enable more investigations for aqueous humor analysis in the future.
May 8, 2018: Nanomaterials
https://www.readbyqxmd.com/read/29669369/cataract-surgery-in-high-hyperopia
#4
Nicolas Philipp Waldmann, Nadine Gerber, Warren Hill, David Goldblum
BACKGROUND: Although cataract surgery is a well-established and standardised procedure, it can be demanding and associated with higher complication rates in high hyperopia. We present clinical data for highly hyperopic patients who underwent cataract surgery over a 12-year period (2005 - 2016) and at a single centre. PATIENTS AND METHODS: Out of a total of 11 434 cataract operations, 41 highly hyperopic eyes (SN60AT ≥ 31 dpt) were included for analysis...
April 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29604391/macular-corneal-dystrophy-a-review
#5
REVIEW
Shruti Aggarwal, Travis Peck, Jeffrey Golen, Zeynel A Karcioglu
Macular corneal dystrophy (MCD) is a corneal stromal dystrophy which leads to progressive vision loss. MCD is an autosomal recessive condition in which there is abnormality of proteoglycan synthesis. Mutations in the carbohydrate sulphotransferase gene (CHST6) prevent normal sulfation of corneal keratan. Different immunophenotypes have been described depending on the presence of keratan sulfate in cornea and or serum. The deposition of abnormal proteoglycans leads to loss of corneal transparency and decreased vision...
March 28, 2018: Survey of Ophthalmology
https://www.readbyqxmd.com/read/29559831/dj-1-in-ocular-diseases-a-review
#6
REVIEW
Cong Liu, Xiufen Liu, Jing Qi, Om Prakash Pant, Cheng-Wei Lu, Jilong Hao
Protein deglycase DJ-1 (Parkinson disease protein 7) is a 20 kDa protein encoded by PARK7 gene. It is also known as a redox-sensitive chaperone and sensor that protect cells against oxidative stress-induced cell death in many human diseases. Though increasing evidence implicates that DJ-1 may also participate in ocular diseases, the overview of DJ-1 in ocular diseases remains elusive. In this review, we discuss the role as well as the underlying molecular mechanisms of DJ-1 in ocular diseases, including Fuchs endothelial corneal dystrophy (FECD), age-related macular degeneration (AMD), cataracts, and ocular neurodegenerative diseases, highlighting that DJ-1 may serve as a very striking therapeutic target for ocular diseases...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29376197/mitochondrial-a3243g-mutation-results-in-corneal-endothelial-polymegathism
#7
Mathieu F Bakhoum, Wei-Pu Wu, Eugenia C White, Jesse D Sengillo, Christian Sanfilippo, Marcelle M Morcos, K Bailey Freund, Henry D Perry, David Sarraf, Stephen H Tsang
PURPOSE: The mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicroscopy analysis in patients harboring the mitochondrial DNA point mutation A3243G to assess for the associated presence of corneal endothelial abnormalities. METHODS: We present a case series with participants from two institutions...
March 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29350686/fuchs-endothelial-corneal-dystrophy-and-macular-drusen-evidence-for-coincidence
#8
M Matthaei, E Elsner, A Caramoy, W Adler, S Siebelmann, F Schaub, C Skevas, S Liakopoulos, B Bachmann, C Cursiefen, L M Heindl
No abstract text is available yet for this article.
April 2018: Eye
https://www.readbyqxmd.com/read/29325388/-the-research-advances-of-microrna-184-and-related-ocular-diseases
#9
R R Zong, Y P Zhou, Z G Liu
microRNA-184 (miR-184) is a small, non-coding, endogenic RNA molecule of 22 nucleotides in length. It is a highly conserved sequence throughout many different species. Multiple studies have demonstrated that miR-184 is an important factor in regulating gene expression at the post-transcriptional level. miR-184 plays vital roles in many biological processes, including development and differentiation in many tissues and organs. Meanwhile, the research on the physiological and pathological role of miR-184 in eyes draws more and more attention lately...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29221207/-chst6-mutation-screening-and-endoplasmatic-reticulum-stress-in-macular-corneal-dystrophy
#10
Liyuan Wang, Xianling Tang, Xiaolin Lv, Encheng Sun, Donglai Wu, Changlin Wang, Ping Liu
Macular corneal dystrophy (MCD) is an autosomal recessive disorder mainly caused by gene mutations of carbohydrate sulfotransferase ( CHST6 ) leading to bilateral visual impairment. Because the mechanism underlying this degeneration remains poorly understood, we investigated molecular alterations and pathways that may be involved in MCD in this issue. Different mutation sites were screened by direct sequencing of the coding region of CHST6 . In addition, we described morphological changes in MCD keratocytes by light microscopy and electron microscopy and determined the relationship between the development of this disease and the occurrence of apoptosis through flow cytometry, cell counting kit-8, colony formation assay and other experiments...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29132691/-practical-assessment-of-dsaek-in-the-management-of-endothelial-decompensation-following-penetrating-keratoplasty
#11
E Neiter, C Goetz, F Tortuyaux, A Ehrhardt, N Houmad, J-M Perone
PURPOSE: To report our anatomical and functional results as well as possible complications of the first six Descemet's stripping endothelial keratoplasties (DSAEK) performed in our department for endothelial decompensation after penetrating keratoplasty (PK) METHODS: This was a retrospective and observational monocentric study of six patients with DSAEK after prior PK between January 2015 and July 2016. The data collected were: demographic characteristics (age, sex), ophthalmological comorbidities, initial indication for PK, delay between PK and DSAEK...
December 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29041837/infective-keratitis-in-indian-patients-with-corneal-dystrophies
#12
Anita Ganger, Noopur Gupta, Ankit S Tomar, Murugesan Vanathi, Radhika Tandon
All eight patients seen with various types of corneal dystrophy, a rare hereditary corneal disease, presented with infective keratitis. Unilateral microbial invasion was seen in all patients and the visual acuity of the affected eyes was <6/60 at presentation. We highlight our impression that microbial invasion can occur with all types of epithelial and stromal corneal dystrophy, including macular corneal dystrophy. Regular follow-up to maintain a healthy ocular surface is recommended to avert blindness in such patients...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/28525563/omics-biomarkers-in-ophthalmology
#13
REVIEW
Susette Lauwen, Eiko K de Jong, Dirk J Lefeber, Al den Hollander
"Omics" refers to high-throughput analyses of genes, proteins, or metabolites in a biological system, and is increasingly used for ophthalmic research. These system-based approaches can unravel disease-related processes and are valuable for biomarker discovery. Furthermore, potential therapeutic targets can be identified based on omics results, and targeted follow-up experiments can be designed to gain molecular understanding of the disease and to test new therapies. Here, we review the application of omics techniques in eye diseases, focusing on age-related macular degeneration (AMD), diabetic retinopathy (DR), retinal detachment (RD), myopia, glaucoma, Fuchs' corneal dystrophy (FCD), cataract, keratoconus, and dry eyes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28486726/management-of-interface-fluid-syndrome-after-lasik-by-descemet-membrane-endothelial-keratoplasty-in-a-patient-with-fuchs-corneal-endothelial-dystrophy
#14
Mehdi Shajari, Parviz Rafiezadeh, Ivana Pavlovic, Kate Barbara Kubiak, Thomas Kohnen, Ingo Schmack
PURPOSE: To report a case of interface fluid syndrome after LASIK in a patient with Fuchs' corneal endothelial dystrophy treated with Descemet membrane endothelial keratoplasty (DMEK). METHODS: Case report. RESULTS: A 74-year-old patient presented with interface fluid syndrome and was treated with DMEK. Its complications in the form of partial graft detachment and cystoid macular edema were successfully managed by rebubbling and topical treatment, respectively...
May 1, 2017: Journal of Refractive Surgery
https://www.readbyqxmd.com/read/28437275/descemet-membrane-endothelial-keratoplasty-after-failed-descemet-stripping-without-endothelial-keratoplasty
#15
Rohini Rao, Durga S Borkar, Kathryn A Colby, Peter B Veldman
PURPOSE: To describe the clinical course, surgical experience, and postoperative outcomes of 3 patients with Fuchs endothelial dystrophy who underwent Descemet membrane endothelial keratoplasty (DMEK) after failed Descemet stripping without endothelial keratoplasty. METHODS: Three patients who underwent DMEK for management of persistent corneal edema after deliberate Descemet stripping in the setting of Fuchs endothelial dystrophy were identified. Patients were examined at day 1, week 1, and months 1, 3, and 6 after DMEK...
July 2017: Cornea
https://www.readbyqxmd.com/read/27956322/fuchs-dystrophy-associated-with-radial-keratotomy-lamellar-or-perforating-keratoplasty
#16
P Rodriguez-Ausin, D Antolin-Garcia, L Santamaria Garcia, A-B Blazquez-Fernandez
CASE REPORT: A 70 year-old male patient with a history of radial keratotomy suffering from Fuchs' dystrophy and a cataract. The patient received a two-step surgery: lens phacoemulsification and intraocular lens implant, followed by descemet stripping automated endothelial keratoplasty in both eyes, four months later. There were no complications apart from a recurrent cystoid macular oedema in both eyes. The best corrected visual acuity was 20/40 both eyes, and the patient was satisfied...
December 8, 2016: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/27829782/genetic-analysis-of-chst6-and-tgfbi-in-turkish-patients-with-corneal-dystrophies-five-novel-variations-in-chst6
#17
Fulya Yaylacioglu Tuncay, Gülsüm Kayman Kurekci, Sezen Guntekin Ergun, Ozge Tugce Pasaoglu, Rustu Fikret Akata, Pervin Rukiye Dincer
PURPOSE: To identify pathogenic variations in carbohydrate sulfotransferase 6 ( CHST6 ) and transforming growth factor, beta-induced ( TGFBI ) genes in Turkish patients with corneal dystrophy (CD). METHODS: In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate (AgKS) in the serum samples of patients with MCD was determined with enzyme-linked immunosorbent assay (ELISA) to immunophenotypically subtype the patients as MCD type I and MCD type II...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27755187/macular-corneal-dystrophy-and-posterior-corneal-abnormalities
#18
Yair Rubinstein, Chen Weiner, Adi Einan-Lifshitz, Noa Chetrit, Nadav Shoshany, David Zadok, Isaac Avni, Eran Pras
PURPOSE: This study reports the presentation of 2 families with macular corneal dystrophy (MCD). The aim of this study was to show whether ultrasound biomicroscopy (UBM) can, based on posterior changes of the cornea in MCD, assist in the choice of surgery, either anterior lamellar keratoplasty (DALK) or penetrating keratoplasty (PK), compared with optical coherence tomography (OCT) and Scheimpflug. METHODS: Six patients with MCD were examined for their best-corrected visual acuity, slit-lamp, OCT, UBM, and Scheimpflug findings...
December 2016: Cornea
https://www.readbyqxmd.com/read/27748734/establishment-of-an-in-vitro-monolayer-model-of-macular-corneal-dystrophy
#19
Sumit Murab, Shibu Chameettachal, Sourabh Ghosh
Macular corneal dystrophy (MCD) is characterized by multiple punctate gray-white opacities in the corneal stromal region, due to the accumulation of abnormally sulfated keratan sulfates. We attempted to develop an in vitro model of MCD by simulating the sulfation inhibition using sodium chlorate, a chemical inhibitor of 3'-phosphoadenosine-5'-phosphosulfate (PAPs). The SEM and micro-Raman spectroscopy results showed the hallmark feature of MCD. Further the gene expression studies elucidated the direct effect of sulfation inhibition on the WNT pathway, that in turn downregulated production of matrix metalloproteinases (MMPs), which causes abnormal matrix deposits leading to loss of transparency in vivo...
December 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27536778/corneal-higher-order-aberrations-in-granular-lattice-and-macular-corneal-dystrophies
#20
Yukari Yagi-Yaguchi, Takefumi Yamaguchi, Yumi Okuyama, Yoshiyuki Satake, Kazuo Tsubota, Jun Shimazaki
PURPOSE: To evaluate the corneal higher-order aberrations (HOAs) in granular, lattice and macular corneal dystrophies. METHODS: This retrospective study includes consecutive patients who were diagnosed as granular corneal dystrophy type2 (GCD2; 121 eyes), lattice corneal dystrophies type 1, type 3A (LCDI; 20 eyes, LCDIIIA; 32 eyes) and macular corneal dystrophies (MCD; 13 eyes), and 18 healthy control eyes. Corneal HOAs were calculated using anterior segment optical coherence tomography, and the correlations between HOAs and visual acuity were analyzed...
2016: PloS One
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