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corneal macular dystrophy

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...
January 29, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
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.
January 19, 2018: Eye
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
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
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
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
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
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
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
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
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
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
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
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
Panida Kosrirukvongs, Panotsom Ngowyutagon, Wipawee Booranapong
OBJECTIVE: To show the association between keratoconus and macular dystrophy. MATERIAL AND METHOD: All patients with macular dystrophy and associated clinical findings leading to a diagnosis of keratoconus by corneal topography were retrospectively reviewed during a 10-year period. Uncorrected and best-corrected visual acuity, automated refraction, manifest refraction, corneal thickness, and corneal curvature by corneal topography were evaluated RESULTS: Three patients with macular dystrophy exhibiting decreased vision, multifocal white dense deposits, and haze surrounding the deposits in the corneal stroma were evaluated...
January 2016: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Nadia Carstens, Susan Williams, Saadiah Goolam, Trevor Carmichael, Ming Sin Cheung, Stine Büchmann-Møller, Marc Sultan, Frank Staedtler, Chao Zou, Peter Swart, Dennis S Rice, Arnaud Lacoste, Kim Paes, Michèle Ramsay
BACKGROUND: Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South African family with two affected sisters. METHODS: A multigenerational South African Sotho-speaking family with type I MCD was studied using whole exome sequencing. Variant filtering to identify the MCD-causal mutation included the disease inheritance pattern, variant minor allele frequency and potential functional impact...
July 20, 2016: BMC Medical Genetics
J S Weiss
PURPOSE: The first Oskar Fehr lecture is given in honour of Professor Fehr, a well respected ophthalmologist, who was head physician of the Department of Eye Diseases at the Rudolf Virchow Hospital from 1918. He practiced there until 1938, when he was forbidden to enter the clinic because he was Jewish and subject to the anti-Semitic laws that were instituted after the rise of the Nazi party. Dr. Fehr escaped to Great Britain, where he practiced ophthalmology into his eighties. He was the first to distinguish between granular corneal dystrophy, lattice corneal dystrophy and macular corneal dystrophy...
June 2016: Klinische Monatsblätter Für Augenheilkunde
Erdem Yuksel, Mehmet Ozgur Cubuk, Hulya Yazıcı Eroglu, Kamil Bilgihan
PURPOSE: To evaluate the visual outcomes, recurrence patterns, safety, and efficacy of excimer laser phototherapeutic keratectomy (PTK) in conjunction with mitomycin C (MMC) for corneal macular and granular diystrophies. METHODS: The patients were divided into two groups. Group 1 included patients with macular corneal dystrophy (MCD) that caused superficial corneal plaque opacities, and Group 2 included patients with granular corneal dystrophy (GCD). Patients in both groups were pre-, peri-, and postoperatively evaluated...
April 2016: Arquivos Brasileiros de Oftalmologia
Małgorzata Nita, Andrzej Grzybowski
The reactive oxygen species (ROS) form under normal physiological conditions and may have both beneficial and harmful role. We search the literature and current knowledge in the aspect of ROS participation in the pathogenesis of anterior and posterior eye segment diseases in adults. ROS take part in the pathogenesis of keratoconus, Fuchs endothelial corneal dystrophy, and granular corneal dystrophy type 2, stimulating apoptosis of corneal cells. ROS play a role in the pathogenesis of glaucoma stimulating apoptotic and inflammatory pathways on the level of the trabecular meshwork and promoting retinal ganglion cells apoptosis and glial dysfunction in the posterior eye segment...
2016: Oxidative Medicine and Cellular Longevity
Scott McCusker, Maju Mathew Koola
OBJECTIVE: To review the prevalence of depression in common ophthalmologic disorders in the elderly and provide insight into treatment. DATA SOURCES: PubMed, Google Scholar, and DynaMed were searched using the terms depression and ophthalmology in combination with depression, mood disorders, cataracts, vision loss, age-related macular degeneration, primary open-angle glaucoma, and Fuchs corneal dystrophy. Articles were limited to those published in the English language between 1993 and 2013...
2015: Primary Care Companion to CNS Disorders
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