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corneal macular dystrophy

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https://www.readbyqxmd.com/read/27829782/genetic-analysis-of-chst6-and-tgfbi-in-turkish-patients-with-corneal-dystrophies-five-novel-variations-in-chst6
#1
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
#2
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...
October 14, 2016: Cornea
https://www.readbyqxmd.com/read/27748734/establishment-of-an-in-vitro-monolayer-model-of-macular-corneal-dystrophy
#3
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...
October 17, 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
#4
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
https://www.readbyqxmd.com/read/27455826/keratoconus-in-patients-with-macular-stromal-dystrophy
#5
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
https://www.readbyqxmd.com/read/27439461/novel-mutation-in-the-chst6-gene-causes-macular-corneal-dystrophy-in-a-black-south-african-family
#6
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...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27315290/the-oskar-fehr-lecture
#7
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
https://www.readbyqxmd.com/read/27224065/excimer-laser-phototherapeutic-keratectomy-in-conjunction-with-mitomycin-c-in-corneal-macular-and-granular-dystrophies
#8
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
https://www.readbyqxmd.com/read/26881021/the-role-of-the-reactive-oxygen-species-and-oxidative-stress-in-the-pathomechanism-of-the-age-related-ocular-diseases-and-other-pathologies-of-the-anterior-and-posterior-eye-segments-in-adults
#9
REVIEW
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
https://www.readbyqxmd.com/read/26693037/association-of-ophthalmologic-disorders-and-depression-in-the-elderly-a-review-of-the-literature
#10
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
https://www.readbyqxmd.com/read/26604660/molecular-analysis-of-the-chst6-gene-in-korean-patients-with-macular-corneal-dystrophy-identification-of-three-novel-mutations
#11
Shin Hae Park, Ye Jin Ahn, Hyojin Chae, Yonggoo Kim, Man Soo Kim, Myungshin Kim
PURPOSE: To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD). METHODS: Genomic DNA was isolated from peripheral blood leukocytes of seven patients from six unrelated families with MCD (three men and four women). Polymerase chain reaction was performed for coding regions of the carbohydrate sulfotransferase (CHST6), gene followed by bidirectional sequencing. Targeted mutational analysis (exons 4, 11-12, 14) of the transforming growth factor, beta-induced (TGFBI) gene was performed for all patients...
2015: Molecular Vision
https://www.readbyqxmd.com/read/26585178/a-carbohydrate-sulfotransferase-6-chst6-gene-mutation-is-associated-with-macular-corneal-dystrophy-in-labrador-retrievers
#12
Roser Tetas Pont, Louise Downs, Louise Pettitt, Claudia Busse, Cathryn S Mellersh
PURPOSE: To locate and identify variants associated with macular corneal dystrophy (MCD) in Labrador Retriever (LR) dogs, in the candidate gene carbohydrate sulfotransferase-6 (CHST6). METHODS: The single coding exon of canine CHST6 was sequenced in one affected LR with MCD and one control LR clinically clear of ocular disease. A further 71 control LR with unknown clinical status were sequenced for the putative causal variant in CHST6. A TaqMan SNP genotyping assay was developed and used to screen an additional 84 dogs (five affected LR and 79 clinically clear LR)...
November 20, 2015: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/26509759/femtosecond-laser-assisted-lamellar-keratectomy-for-corneal-opacities-secondary-to-anterior-corneal-dystrophies-an-interventional-case-series
#13
Bernhard Steger, Vito Romano, Simon Biddolph, Colin E Willoughby, Mark Batterbury, Stephen B Kaye
PURPOSE: To report results of femtosecond laser-assisted lamellar keratectomy (FLK) for corneal opacities secondary to anterior corneal dystrophies. METHODS: Patients with a clinical diagnosis of Reis-Bücklers corneal dystrophy, granular corneal dystrophy, lattice corneal dystrophy, and macular corneal dystrophy were treated. FLK was performed to remove a central corneal free cap of 9.5 mm in diameter at a depth of 110 to 140 μm on which histological analysis was undertaken...
January 2016: Cornea
https://www.readbyqxmd.com/read/26457303/comparative-study-of-anterior-eye-segment-measurements-with-spectral-swept-source-and-time-domain-optical-coherence-tomography-in-eyes-with-corneal-dystrophies
#14
COMPARATIVE STUDY
Anna K Nowinska, Sławomir J Teper, Dominika A Janiszewska, Anita Lyssek-Boron, Dariusz Dobrowolski, Robert Koprowski, Edward Wylegala
PURPOSE: To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs). METHODS: Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes) were recruited for the study...
2015: BioMed Research International
https://www.readbyqxmd.com/read/26312622/in-vivo-confocal-microscopic-analysis-of-limbal-stroma-in-patients-with-limbal-stem-cell-deficiency
#15
Gowri Priya Chidambaranathan, Saumi Mathews, Arun Kumar Panigrahi, Jeena Mascarenhas, Namperumalsamy Venkatesh Prajna, Veerappan Muthukkaruppan
PURPOSE: Using in vivo confocal microscopy, we established that unique hyperreflective structures in the anterior limbal stroma of healthy individuals represent the limbal stromal niche. The aim of this study was to characterize the limbal stromal microarchitecture in patients with limbal stem cell deficiency (LSCD). METHODS: After obtaining informed consent, 10 patients with LSCD and 3 with macular corneal dystrophy were recruited. In vivo confocal imaging of the limbus and cornea of the affected and normal eyes was performed using an HRT III laser scanning microscope, beyond the epithelium deep into the stroma...
November 2015: Cornea
https://www.readbyqxmd.com/read/26271841/the-first-100-eyes-of-standardized-descemet-stripping-automated-endothelial-keratoplasty-versus-standardized-descemet-membrane-endothelial-keratoplasty
#16
COMPARATIVE STUDY
Ebru C Hamzaoglu, Michael D Straiko, Zachary M Mayko, Christopher S Sáles, Mark A Terry
PURPOSE: To compare results of the first 100 eyes of Descemet stripping automated endothelial keratoplasty (DSAEK) and Descemet membrane endothelial keratoplasty (DMEK) that were performed with a standardized technique at a single institution. DESIGN: Single-center, retrospective case series. PARTICIPANTS: The first 100 eyes of standardized DSAEK and DMEK that underwent surgery for Fuchs corneal dystrophy at our center. We excluded patients with prior ocular surgery other than cataract surgery to limit confounding variables...
November 2015: Ophthalmology
https://www.readbyqxmd.com/read/25970437/deep-anterior-lamellar-keratoplasty-in-macular-corneal-dystrophy
#17
LETTER
Tarun Arora, Supriya Arora, Vijay Sharma
No abstract text is available yet for this article.
August 2015: Cornea
https://www.readbyqxmd.com/read/25949075/prevalence-and-histopathological-characteristics-of-corneal-stromal-dystrophies-in-saudi-arabia
#18
Sultan Alzuhairy, Hind M Alkatan, Ali A Al-Rajhi
PURPOSE: The aim was to determine the frequency and describe the main histopathologic features of corneal stromal dystrophy in Saudi Arabia. METHODS: A single-center, retrospective analysis of 193 corneal specimens diagnosed with stromal dystrophy. All samples were retrieved from the Histopathology Department at King Khaled Eye Specialist Hospital over a 10-year period (2002 to December 31, 2011). Cases of stromal dystrophy undergoing keratoplasty were included in the study...
April 2015: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/25939479/collagen-fibrils-and-proteoglycans-of-macular-dystrophy-cornea-ultrastructure-and-3d-transmission-electron-tomography
#19
Saeed Akhtar, Hind M Alkatan, Omar Kirat, Adnan A Khan, Turki Almubrad
We report the ultrastructure and 3D transmission electron tomography of collagen fibrils (CFs), proteoglycans (PGs), and microfibrils within the CF of corneas of patients with macular corneal dystrophy (MCD). Three normal corneas and three MCD corneas from three Saudi patients (aged 25, 31, and 49 years, respectively) were used for this study. The corneas were processed for light and electron microscopy studies. 3D images were composed from a set of 120 ultrastructural images using the program "Composer" and visualized using the program "Visuliser Kai"...
June 2015: Microscopy and Microanalysis
https://www.readbyqxmd.com/read/25878626/corneal-topography-analysis-of-stromal%C3%A2-corneal%C3%A2-dystrophies
#20
Yusuf Kocluk, Zuleyha Yalniz-Akkaya, Ayse Burcu, Firdevs Ornek
OBJECTIVE: The aim was to compare the corneal topography and tomography parameters of macular corneal dystrophy (MCD), granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) patients obtained by Scheimpflug imaging system. METHODS: The charts, photographs and topography images of patients were reviewed retrospectively. This study included 73 eyes of 73 patients (28 MCD, 20 GCG and 25 LCD patients). Topography images were obtained by Pentacam (Oculus Optikgerate, Wetzlar, Germany)...
January 2015: Pakistan Journal of Medical Sciences Quarterly
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