560 results match your criteria Dystrophy Granular


Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.

Turk J Ophthalmol 2020 Apr;50(2):64-70

Konya Numune Hospital, Clinic of Ophtalmology, Konya, Turkey.

Objectives: Granular corneal dystrophies (GCD) are characterized by small, discrete, sharp-edged, grayish-white opacities in the corneal stroma. Among the genes responsible for the development of GCD, the most strongly related gene is transforming growth factor beta-induced (), located in the 5q31.1 locus. Read More

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http://dx.doi.org/10.4274/tjo.galenos.2019.55770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204905PMC

Involvement of the JNK signaling in granular corneal dystrophy by modulating TGF-β-induced TGFBI expression and corneal fibroblast apoptosis.

In Vitro Cell Dev Biol Anim 2020 Mar 18;56(3):234-242. Epub 2020 Mar 18.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen University School of Medicine, No. 18, Zetian Road, Futian District, Shenzhen, 518040, China.

Granular corneal dystrophy (GCD) is featured by corneal deposits of transforming growth factor beta-induced gene (TGFBI) mediated by the TGF-β (transforming growth factor-β)/Smad signaling. However, the roles of c-Jun amino-terminal kinase (JNK) pathway in GCD pathogenesis remains unexplored, which was investigated in this study. JNK signaling activation and inhibition in primary corneal fibroblasts were obtained by treatments with anisomycin and SP600125, respectively. Read More

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http://dx.doi.org/10.1007/s11626-019-00424-6DOI Listing

Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies.

Prog Retin Eye Res 2020 Jan 29:100843. Epub 2020 Jan 29.

Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark. Electronic address:

Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the second most abundant protein in the corneal stroma. In this review, we summarize the current knowledge concerning the expression, molecular structure, binding partners, and functions of human TGFBIp. To date, 74 mutations in the transforming growth factor-β-induced gene (TGFBI) are associated with amyloid and amorphous protein deposition in TGFBI-linked corneal dystrophies. Read More

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http://dx.doi.org/10.1016/j.preteyeres.2020.100843DOI Listing
January 2020

Early ultra- and microstructural alterations in rat pancreas in alloxan-induced diabetes mellitus.

Ultrastruct Pathol 2020 Jan 31;44(1):61-70. Epub 2019 Dec 31.

Pathology Department, North-Western State Medical University named after I.I. Mechnikov, Saint-Petersburgh, Russian Federation.

An adequate experimental model is important to understand pathophysiological processes ongoing in the pancreas with diabetes mellitus. Our study was aimed to describe early ultra- and microstructural changes in the rat pancreas in 12-48 h after alloxan administration in a dose of 180 mg/kg. A histopathological examination of the endocrine pancreas revealed the loss of borders between endocrine cells, granular dystrophy and degranulation, sings of necrosis in central cells of the Langerhans islets and apoptosis of their peripheral ones manifested as DNA fragmentation and an increased expression of apoptosis markers. Read More

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http://dx.doi.org/10.1080/01913123.2019.1710313DOI Listing
January 2020

Systematic review of differential methylation in rare ophthalmic diseases.

BMJ Open Ophthalmol 2019 13;4(1):e000342. Epub 2019 Nov 13.

Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK.

Rare ophthalmic diseases have a devastating impact on a patient's vision and consequently negatively affect their independence, ability to work and overall quality of life. Methylation is an important emerging biomarker of disease and may improve understanding of rare ophthalmic disorders. This systematic review sought to identify and evaluate literature on methylation and rare ophthalmic disease. Read More

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http://dx.doi.org/10.1136/bmjophth-2019-000342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861117PMC
November 2019

Effect of naked and PEG-coated gold nanoparticles on histopathology and cytokines expression in rat liver and kidneys.

Nanomedicine (Lond) 2020 02 27;15(3):289-302. Epub 2019 Nov 27.

Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.

To compare the effects of 5- and 50-nm naked and PEG-coated gold nanoparticles (AuNP) on proinflammatory cytokines (IL-1β, IL-6, TNF-α) expression and histopathological changes in liver and kidneys of rats. Rats were injected with different nanoparticles and sacrificed after 24 h. Both 5- and 50-nm AuNPs, and 50-nm PEG-AuNPs caused granular clumping of cytoplasm, edema and hydropic dystrophy in hepatic cells. Read More

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http://dx.doi.org/10.2217/nnm-2019-0220DOI Listing
February 2020

Distinct ocular surface soluble factor profile in human corneal dystrophies.

Ocul Surf 2020 Apr 19;18(2):237-248. Epub 2019 Nov 19.

GROW Research Laboratory, Narayana Nethralaya Foundation, Bengaluru, India. Electronic address:

Purpose: Corneal dystrophies (CD) are classified as rare eye diseases that results in visual impairment and requires corneal transplant in advanced stages. Ocular surface inflammatory status in different types of CD remains underexplored. Hence, we studied the levels of tear soluble factors in the tears of patients with various types of corneal dystrophies. Read More

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http://dx.doi.org/10.1016/j.jtos.2019.11.007DOI Listing
April 2020
4 Reads

Predictability of intraocular lens power calculation in eyes after phototherapeutic keratectomy.

Jpn J Ophthalmol 2020 Jan 5;64(1):62-67. Epub 2019 Nov 5.

Department of Ophthalmology, Kitasato University, Tokyo, Japan.

Purpose: To compare the predictability of intraocular lens (IOL) power calculation using several corneal power measurements in eyes that underwent phototherapeutic keratectomy (PTK).

Study Design: Retrospective case series.

Methods: We reviewed the clinical charts of 42 eyes of 25 consecutive patients who underwent cataract surgery after PTK for granular corneal dystrophy or band keratopathy. Read More

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http://dx.doi.org/10.1007/s10384-019-00699-yDOI Listing
January 2020

Deep anterior lamellar keratoplasty outcomes in macular and granular corneal dystrophy - A comparative cross-sectional study.

Indian J Ophthalmol 2019 11;67(11):1830-1833

Department of Cornea, Cataract and Refractive Services, The Eye Foundation Hospital, Coimbatore, Tamil Nadu, India.

Purpose: To compare the functional and anatomical outcomes (in terms of graft uptake and rejection/failure) of deep anterior lamellar keratoplasty (DALK) in stromal corneal dystrophy (macular and granular).

Methods: Sixteen eyes with macular corneal dystrophy (MCD; group A) and 10 eyes with granular corneal dystrophy (GCD; group B) underwent successful DALK by big bubble technique or layer-by-layer dissection.

Results: Both groups showed significant improvement in their best-corrected visual acuity postoperatively (postoperative P value in MCD and GCD was 0. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1623_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836615PMC
November 2019
1 Read

Phototherapeutic Keratectomy for Recurrent Granular Corneal Dystrophy After Penetrating Keratoplasty.

JAMA Ophthalmol 2019 09 12;137(9):e185927. Epub 2019 Sep 12.

State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, Qingdao, China.

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http://dx.doi.org/10.1001/jamaophthalmol.2018.5927DOI Listing
September 2019

Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity.

Can J Neurol Sci 2019 11;46(6):760-761

Department of Radiology, Vijaya Diagnostic Centre, Hyderabad, India.

A 9-year-old female presented to neurology outpatient department of our hospital with complaints of recurrent generalized tonic-clonic seizures since birth and was being treated with anticonvulsants for the same. Patient also had complaints of giddiness and episodes of momentary loss of consciousness. There was history of twitching of left hemiface and eyelid during infancy, often associated with deviation of eyes to the left and groaning. Read More

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http://dx.doi.org/10.1017/cjn.2019.249DOI Listing
November 2019
5 Reads
1.599 Impact Factor

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the gene.

Ophthalmic Genet 2019 08 19;40(4):329-337. Epub 2019 Jul 19.

Department of Ophthalmology, Habib Thameur Hospital , Tunis , Tunisia.

: We report the clinical features and the mutational analysis in a large Tunisian family with granular corneal dystrophy type I (GCD1). : Thirty-three members of the Tunisian family underwent a complete ophthalmologic examination. DNA extraction and direct Sanger sequencing of the exons 4 and 12 of transforming growth factor β Induced (TGFBI) gene was performed for 42 members. Read More

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http://dx.doi.org/10.1080/13816810.2019.1639202DOI Listing
August 2019
2 Reads
1.233 Impact Factor

Familial association of keratoconus and granular corneal dystrophy: The familial case series.

North Clin Istanb 2019 4;6(2):176-183. Epub 2018 Sep 4.

Department of Ophthalmology, Inonu University Faculty of Medicine, Malatya, Turkey.

Objective: The aim of the present study was to evaluate the coexistence of bilateral keratoconus and granular corneal dystrophy (GCD) in the members of a family.

Methods: A total of 22 patients were examined in four generations of the family tree in this family screening study. Visual acuity test, biomicroscopic examination, and fundus examination were performed in all patients. Read More

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http://dx.doi.org/10.14744/nci.2018.08860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593915PMC
September 2018
1 Read

Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan.

Medicine (Baltimore) 2019 Jul;98(27):e16216

Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto.

To assess the indications, outcomes and time to recurrence of phototherapeutic keratectomy (PTK) for anterior corneal pathology.This study involved 714 eyes of 477 consecutive patients (mean age: 66.0 ± 15. Read More

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http://dx.doi.org/10.1097/MD.0000000000016216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635226PMC
July 2019
5 Reads

Spontaneous Incidental Brain Lesions in C57BL/6J Mice.

Vet Pathol 2020 Jan 4;57(1):172-182. Epub 2019 Jul 4.

Department of Pathobiology, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA.

Genetically engineered mouse lines on a C57BL/6J background are widely employed as preclinical models to study neurodegenerative human disorders and brain tumors. However, because of the lack of comprehensive data on the spontaneous background neuropathology of the C57BL/6J strain, discriminating between naturally occurring changes and lesions caused by experimental mutations can be challenging. In this context, this study aims at defining the spectrum and frequency of spontaneous brain changes in a large cohort of C57BL/6J mice and their association with specific biological variables, including age and sex. Read More

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http://dx.doi.org/10.1177/0300985819859878DOI Listing
January 2020
2 Reads

The serine protease HtrA1 cleaves misfolded transforming growth factor β-induced protein (TGFBIp) and induces amyloid formation.

J Biol Chem 2019 08 13;294(31):11817-11828. Epub 2019 Jun 13.

Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark

The serine protease high-temperature requirement protein A1 (HtrA1) is associated with protein-misfolding disorders such as Alzheimer's disease and transforming growth factor β-induced protein (TGFBIp)-linked corneal dystrophy. In this study, using several biochemical and biophysical approaches, including recombinant protein expression, LC-MS/MS and 2DE analyses, and thioflavin T (ThT) fluorescence assays for amyloid fibril detection, and FTIR assays, we investigated the role of HtrA1 both in normal TGFBIp turnover and in corneal amyloid formation. We show that HtrA1 can cleave WT TGFBIp but prefers amyloidogenic variants. Read More

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http://dx.doi.org/10.1074/jbc.RA119.009050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682723PMC
August 2019
3 Reads

Factors Affecting Formation of Type-1 and Type-2 Big Bubble during Deep Anterior Lamellar Keratoplasty.

Curr Eye Res 2019 07 25;44(7):701-706. Epub 2019 Apr 25.

a Cornea and Ocular Surface Diseases Department , Eye Hospital of Wenzhou Medical University, Wenzhou Medical University , Wenzhou , Zhejiang , China.

: To determine the factors associated with the formation of different types of big bubble (BB) during DALK. : In this retrospective study, 322 consecutive eyes of 307 patients with corneal stromal disorders who underwent DALK between January 2014 and June 2017 were included. Age, sex, corneal pathology, visual acuity, corneal curvature, corneal thickness, and adverse events were recorded. Read More

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http://dx.doi.org/10.1080/02713683.2019.1597889DOI Listing
July 2019
12 Reads

APP processing and metabolism in corneal fibroblasts and epithelium as a potential biomarker for Alzheimer's disease.

Exp Eye Res 2019 05 28;182:167-174. Epub 2019 Mar 28.

Department of Ophthalmology, Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, South Korea; Institute of Vision Research, Yonsei University College of Medicine, Seoul, South Korea. Electronic address:

Alzheimer's disease (AD) primarily affects the brain and is the most common form of dementia worldwide. Despite more than a century of research, there are still no early biomarkers for AD. It has been reported that AD affects the eye, which is more accessible for imaging than the brain; however, links with the cornea have not been evaluated. Read More

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http://dx.doi.org/10.1016/j.exer.2019.03.012DOI Listing
May 2019
7 Reads

Identification of a Heterozygous Mutation in the Gene in a Hui-Chinese Family with Corneal Dystrophy.

J Ophthalmol 2019 19;2019:2824179. Epub 2019 Feb 19.

Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.

Background/aims: Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers. So far, mutations in several genes have been responsible for various CDs. The purpose of this study is to identify gene mutations in a three-generation Hui-Chinese family associated with granular corneal dystrophy type I (GCD1). Read More

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http://dx.doi.org/10.1155/2019/2824179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399521PMC
February 2019
5 Reads

Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family.

Eur J Ophthalmol 2020 May 14;30(3):469-474. Epub 2019 Mar 14.

Aier School of Ophthalmology, Central South University and Beijing Aier-Intech Eye Hospital, Beijing, P.R. China.

Purpose: The aim of this study was to analyze the relevant gene mutations in a Chinese family with special phenotypic variants of granular corneal dystrophy type 2 with cornea guttata.

Methods: A total of 11 individuals from the affected family underwent complete ophthalmic examination. Genomic DNA was extracted from peripheral leukocytes of affected and unaffected family members. Read More

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http://dx.doi.org/10.1177/1120672119832176DOI Listing
May 2020
18 Reads

Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study.

Vet Ophthalmol 2019 May 30;22(3):294-304. Epub 2019 Jan 30.

National Veterinary School of Touluose, Toulouse, France.

Objective: To describe the phenotype of canine macular corneal dystrophy (MCD) including the clinical presentation, multimodal ocular imaging, histopathology, and ultrastructural analysis in ten Labrador Retrievers.

Procedure: Multicentered data collection.

Results: Labrador Retrievers affected by MCD were presented between the age of 4. Read More

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http://dx.doi.org/10.1111/vop.12596DOI Listing
May 2019
23 Reads

Oxidative Stress, Ocular Disease and Diabetes Retinopathy.

Curr Pharm Des 2018 ;24(40):4726-4741

Chronic Diseases Research Unit, Department of Medical Technology, Faculty of Allied Health Sciences, Naresuan University, 99 Moo 9 Tambon Tha Pho, Muang Phitsanulok 65000, Thailand.

Background: Oxidative stress is caused by free radicals or oxidant productions, including lipid peroxidation, protein modification, DNA damage and apoptosis or cell death and results in cellular degeneration and neurodegeneration from damage to macromolecules.

Results: Accumulation of the DNA damage (8HOdG) products and the end products of LPO (including aldehyde, diene, triene conjugates and Schiff's bases) were noted in the research studies. Significantly higher levels of these products in comparison with the controls were observed. Read More

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http://dx.doi.org/10.2174/1381612825666190115121531DOI Listing
December 2019
8 Reads

Long term follow-up of a family with dominant cone dystrophy.

Int J Ophthalmol 2018 18;11(12):1945-1950. Epub 2018 Dec 18.

Clinical and Experimental Sciences, University of Southampton, Southampton, Hampshire SO16 6YD, UK.

Aim: To describe long term follow-up in a family with dominant cone dystrophy.

Methods: Optical coherence tomography scans and fundus autofluorescence images were obtained. Flash and pattern electroretinograms (ERGs) and occipital pattern reversal visual evoked potentials were recorded. Read More

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http://www.ijo.cn/gjyken/ch/reader/view_abstract.aspx?file_n
Publisher Site
http://dx.doi.org/10.18240/ijo.2018.12.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288524PMC
December 2018
39 Reads

[Corneal dystrophies in optical coherence tomography].

Ophthalmologe 2019 Sep;116(9):857-864

Augenklinik, Ludwig-Maximilians-Universität, Mathildenstr. 8, 80336, München, Deutschland.

Background: Corneal optical coherence tomography (anterior segment OCT, AS-OCT) is described in the current IC3D classification of corneal dystrophies to be a method for improvement of clinical diagnostics and treatment.

Objective: In this case series AS-OCT images of corneal dystrophies were analyzed with respect to morphological changes.

Material And Methods: This was a retrospective imaging and morphological case series with 38 eyes. Read More

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http://link.springer.com/10.1007/s00347-018-0832-8
Publisher Site
http://dx.doi.org/10.1007/s00347-018-0832-8DOI Listing
September 2019
30 Reads

Combined Keratectomy and Localized Limbal Cauterization for Treating Lisch Epithelial Corneal Dystrophy.

Cornea 2019 Feb;38(2):243-245

Department of Ophthalmology, Centro de Oftalmología Barraquer, Universitat Internacional de Catalunya, Barcelona, Spain.

Purpose: To present a new technique for treating Lisch epithelial corneal dystrophy (LECD) in cases of recurrence of the disease.

Methods: We present a single case report of a 41-year-old man who presented to the cornea clinic with progressive loss of vision in the right eye. Slit-lamp examination showed a large white-gray whorl-like epithelial opacity connected to the limbus, which spread over the visual axis, affecting visual acuity. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001825DOI Listing
February 2019
35 Reads

Downregulation of IL-7 and IL-7R Reduces Membrane-Type Matrix Metalloproteinase 14 in Granular Corneal Dystrophy Type 2 Keratocyte.

Invest Ophthalmol Vis Sci 2018 11;59(13):5693-5703

Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.

Purpose: Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the TGF-β-induced gene (TGFBI). However, the mechanisms underlying the accumulation of TGF-β-induced protein (TGFBIp) are poorly understood. Therefore, we evaluated the signaling cascade affecting the expression of TGFBIp using patient-derived cells. Read More

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http://dx.doi.org/10.1167/iovs.18-25161DOI Listing
November 2018
10 Reads

Central Islands and Visual Outcomes of Phototherapeutic Keratectomy Using the Photorefractive Keratectomy Mode.

Cornea 2019 Jan;38(1):89-92

Department of Ophthalmology, Kitasato University, Kanagawa, Japan.

Purpose: To compare the rate of central island (CI) and visual acuity after phototherapeutic keratectomy (PTK) with and without the CI program.

Methods: This retrospective study comprised 147 eyes of 89 consecutive patients (mean age ± SD, 71.1 ± 9. Read More

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http://Insights.ovid.com/crossref?an=00003226-900000000-9674
Publisher Site
http://dx.doi.org/10.1097/ICO.0000000000001761DOI Listing
January 2019
3 Reads

Granular corneal dystrophy: an enigma resolved.

Int Ophthalmol 2019 Jul 25;39(7):1599-1602. Epub 2018 Jun 25.

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: To report the intra-familial phenotypic variation of granular corneal dystrophy (GCD) across different age groups.

Method: Two cases of GCD belonging to the same family (mother and daughter) were assessed and clinical findings were noted.

Result: An 18-year-old female with complaint of glare, on examination showed brownish granules involving bowman's layer and superficial corneal stroma suggesting a diagnosis of Bowman layer dystrophy. Read More

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http://dx.doi.org/10.1007/s10792-018-0971-6DOI Listing
July 2019
8 Reads

Lithium chloride (LiCl) induced autophagy and downregulated expression of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy.

Exp Eye Res 2018 08 19;173:44-50. Epub 2018 Apr 19.

Shenzhen Key Laboratory of Ophthalmology, Ocular Trauma Treatment and Stem Cell Differentiation Public Service Platform of Shenzhen, Shenzhen Eye Hospital, Affiliated Shenzhen Eye Hospital of Jinan University, Shenzhen, 518040, China. Electronic address:

This study evaluated whether lithium chloride (LiCl) prevents cytoplasmic accumulation of mutant-transforming growth factor β-induced protein (Mut-TGFBI) in granular corneal dystrophy (GCD) via activation of the autophagy pathway. Levels of TGFBI and microtubule-associated protein 1A/1B-light chain 3 (LC3) in 3 GCD patients and healthy controls were analyzed by immunohistochemistry (IHC) staining and Western blot. Primary corneal fibroblasts were isolated and transfected with wild type or mutant type TGFBI over-expressed vectors, and then treated with LiCl and/or autophagy inhibitor 3-methyladenine (3-MA). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00144835183002
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http://dx.doi.org/10.1016/j.exer.2018.04.008DOI Listing
August 2018
9 Reads

[Limbokeratoplasty to Treat Lattice and Granular Corneal Dystrophies].

Klin Monbl Augenheilkd 2018 Jun 12;235(6):702-708. Epub 2018 Apr 12.

Klinik für Augenheilkunde, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg, Deutschland.

The surgical technique of limbokeratoplasty (limbo-KP) was initially established for the treatment of severe limbal deficiencies. Besides improving visual acuity, surgery is aimed at ensuring complete, long-lasting epithelialization of the ocular surface. Due to the extension of the indication spectrum, limbo-KPs are also used in various forms of epithelial/stromal corneal dystrophies such as lattice and granular (transforming growth factor beta-induced [TGFBI] gene mutation associated) dystrophies. Read More

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http://dx.doi.org/10.1055/a-0584-7632DOI Listing
June 2018
6 Reads

Expression of ADAMTS-7 in myocardial dystrophy associated with white muscle disease in lambs.

Pol J Vet Sci 2018 Mar;21(1):119-126

Department of Pathology, Harran University, Faculty of Veterinary Medicine, 63100 Sanliurfa, Turkey.

The aim of the present study was to investigate the role of ADAMTS-7 gene in the pathogenesis of myocardial dystrophy associated with white muscle disease (WMD) in lambs. A total of 217 cardiac tissue samples from lambs with WMD were used in the study. Histopathological sections of the samples were stained with hematoxylin-eosin (HE) and examined using Western-blot, real-time PCR (RT-PCR) and immunohistochemistry for ADAMTS-7 gene expression, and the findings were statistically evaluated. Read More

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http://dx.doi.org/10.24425/119029DOI Listing
March 2018
3 Reads

Persistence of granular corneal dystrophy type-1 deposits in the predescemetic layer after big-bubble deep anterior lamellar keratoplasty.

Arq Bras Oftalmol 2018 Jan-Feb;81(1):66-69

Department of Ophthalmology and Visual Sciences, Escola Paulista de Medicine, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

We report intraoperative finding of Granular Corneal Dystrophy Type-1 (GCD1) deposits after stromal pneumodissection in deep anterior lamellar keratoplasty (DALK) in a 61-year-old female. Pneumodissection was performed from the center to the periphery of the cornea, characterizing a big bubble type 1 technique which dissects the deep stroma from the predescemetic layer. After stromal removal, persistence of whitish deposits inside the predescemetic layer was noted. Read More

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http://www.gnresearch.org/doi/10.5935/0004-2749.20180015
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http://dx.doi.org/10.5935/0004-2749.20180015DOI Listing
October 2018
12 Reads

Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain.

J Mol Biol 2018 04 7;430(8):1116-1140. Epub 2018 Mar 7.

Interdisciplinary Nanoscience Center (iNANO), Department of Molecular Biology, Aarhus University, 8000 Aarhus C, Denmark. Electronic address:

Numerous mutations in the corneal protein TGFBIp lead to opaque extracellular deposits and corneal dystrophies (CDs). Here we elucidate the molecular origins underlying TGFBIp's mutation-induced increase in aggregation propensity through comprehensive biophysical and bioinformatic analyses of mutations associated with every major subtype of TGFBIp-linked CDs including lattice corneal dystrophy (LCD) and three subtypes of granular corneal dystrophy (GCD 1-3). LCD mutations at buried positions in the C-terminal Fas1-4 domain lead to decreased stability. Read More

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http://dx.doi.org/10.1016/j.jmb.2018.03.001DOI Listing
April 2018
16 Reads

High regenerative capacity of the liver and irreversible injury of male reproductive system in carbon tetrachloride-induced liver fibrosis rat model.

EPMA J 2018 Mar 11;9(1):59-75. Epub 2017 Oct 11.

3Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, Zabolotny str., 150, Kyiv, 03143 Ukraine.

Background: Liver fibrosis (LF) is a chronic disease, associated with many collateral diseases including reproductive dysfunction. Although the normal liver has a large regenerative capacity the complications of LF could be severe and irreversible. Hormone and sex-related issues of LF development and interactions with male reproductive have not been finally studied. Read More

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http://dx.doi.org/10.1007/s13167-017-0115-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833895PMC
March 2018
43 Reads
3.900 Impact Factor

Refractive Outcomes After Phototherapeutic Refractive Keratectomy for Granular Corneal Dystrophy.

Cornea 2018 May;37(5):548-553

Nagoya Eye Clinic, Nagoya, Japan.

Purpose: This retrospective study aimed to evaluate the effectiveness of a novel procedure named phototherapeutic refractive keratectomy (PTRK), which is a sequential procedure composed of phototherapeutic keratectomy ablation for removal of opacities, followed by smoothing ablation for reducing the corneal surface irregularities and photorefractive keratectomy ablation for correcting refractive errors in eyes with primary granular corneal dystrophy.

Methods: Twenty-three eyes of 17 patients with granular corneal dystrophy were treated with PTRK. Preoperative and postoperative visual acuity, corneal topography, and changes in spherical equivalent and cylindrical refraction were examined and analyzed. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001548DOI Listing
May 2018
12 Reads

Association Between Visual Acuity and the Corneal Area Occupied by Granular Lesions, Linear Lesions, or Diffuse Haze in Patients With Granular Corneal Dystrophy Type 2.

Cornea 2018 May;37(5):542-547

Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.

Purpose: In granular corneal dystrophy type 2 (GCD2), corneal deposits containing fragments of transforming growth factor-β-induced protein appear in sequence as granular lesions (GLs), linear lesions (LLs), and diffuse haze (DH). We aimed to investigate the association between visual acuity and age-related changes in lesion types in patients with GCD2.

Methods: We retrospectively evaluated the medical records and slit-lamp photographs of 533 patients (1066 eyes) with genetically confirmed GCD2 (heterozygous). Read More

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http://dx.doi.org/10.1097/ICO.0000000000001540DOI Listing
May 2018
11 Reads

Long-term Clinical Outcomes of Phototherapeutic Keratectomy in Corneas With Granular Corneal Dystrophy Type 2 Exacerbated After LASIK.

J Refract Surg 2018 Feb;34(2):132-139

Purpose: To investigate the long-term clinical outcomes and recurrence patterns of phototherapeutic keratectomy (PTK) in patients with granular corneal dystrophy type 2 (GCD2) exacerbated after LASIK.

Methods: Fifty-one patients (76 eyes) with GCD2 exacerbated after LASIK who underwent PTK between January 2007 and February 2017 were included. Participants underwent ophthalmic examination, including slit-lamp microscopy, corrected distance visual acuity (CDVA), slit-lamp photography, and Fourier domain optical coherence tomography at preoperative and postoperative visits. Read More

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http://dx.doi.org/10.3928/1081597X-20171220-01DOI Listing
February 2018
16 Reads

Delayed onset Mycobacterium intracellulare keratitis after laser in situ keratomileusis: A case report and literature review.

Medicine (Baltimore) 2017 Dec;96(51):e9356

Department of Ophthalmology, Corneal Dystrophy Research Institute, Institute of Vision Research, Yonsei University College of Medicine.

Rationale: Infectious keratitis is a relatively uncommon but potentially sight-threatening complication of laser in situ keratomileusis (LASIK). Mycobacterial keratitis is usually regarded as late onset keratitis among post-LASIK keratitis. There has been no documented case of Mycobacterium intracellulare post-LASIK keratitis of a long-latent period. Read More

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http://dx.doi.org/10.1097/MD.0000000000009356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758224PMC
December 2017
11 Reads

Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1.

Neuroreport 2018 02;29(3):235-240

Division of Neurology, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya.

Myotonic dystrophy type I (DM1) is a multiorgan disease caused by CTG-repeat expansion in the DMPK gene. Sequestration of the splicing factor MBNL1 results in aberrant splicing in many genes in DM1 skeletal muscle, whereas MBNL2 plays a leading role in missplicing in the central nervous system (CNS) of patients with DM1. Splicing misregulation of most MBNL2-regulated genes occurs in the temporal cortex but not in the cerebellum of autopsied patients with DM1. Read More

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http://dx.doi.org/10.1097/WNR.0000000000000968DOI Listing
February 2018
31 Reads

Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates.

J Cataract Refract Surg 2017 12 9;43(12):1489-1494. Epub 2017 Dec 9.

From the Beijing Tongren Eye Center (Song, Sun, N. Wang, Zhang), Beijing Tongren Hospital, Capital Medical University and Beijing Ophthalmology & Visual Sciences Key Laboratory, the Peking University Third Hospital (Y. Chen), Beijing, Key Laboratory of Myopia, Ministry of Health, Department of Ophthalmology (Zhou, Zhao), the Eye and ENT Hospital of Fudan University, Shanghai, the Eye Hospital of Wenzhou Medical University (Q. Wang, S. Chen), Wenzhou, the West China Hospital of Sichuan University (Deng, Qiu), Chengdu, China; the Stein Eye Institute (Aldave), University of California Los Angeles Medical Center, Los Angeles, California, USA. Electronic address:

Purpose: To determine the prevalence of the transforming growth factor (TGF) β-induced gene corneal dystrophies in refractive surgery candidates in China.

Setting: Five hospitals in China.

Design: Prospective case series. Read More

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http://dx.doi.org/10.1016/j.jcrs.2017.07.038DOI Listing
December 2017
28 Reads

[Exposure to toxic dose of adrenaline on the functional state of the liver].

Patol Fiziol Eksp Ter 2017 Apr-Jun;61(2):67-71

The Purpose: The blood biochemical parameters characterizing the functional state of the liver, and the morphological profile of the body after a single exposure to a toxic dose of adrenaline were studied.

Methods: Studies were conducted on 60 adult rats (female) weighing 0.15-0. Read More

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December 2017
13 Reads

Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair.

Sci Rep 2017 12 1;7(1):16713. Epub 2017 Dec 1.

Department of Mucosal Immunology, School of Medicine, Chiba University, Chiba, Japan.

Granular corneal dystrophy (GCD) is an autosomal dominant hereditary disease in which multiple discrete and irregularly shaped granular opacities are deposited in the corneal stroma. GCD is caused by a point mutation in the transforming growth factor-β-induced (TGFBI) gene, located on chromosome 5q31. Here, we report the first successful application of CRISPR-Cas9-mediated genome editing for the correction of a TGFBI mutation in GCD patient-derived primary corneal keratocytes via homology-directed repair (HDR). Read More

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http://dx.doi.org/10.1038/s41598-017-16308-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5711889PMC
December 2017
34 Reads

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.

Eye (Lond) 2018 01 1;32(1):39-43. Epub 2017 Dec 1.

Biomedical Sciences Research Institute, University of Ulster, Coleraine, Northern Ireland, UK.

PurposeThe post-LASIK exacerbation of corneal dystrophy, otherwise asymptomatic, is almost exclusively associated with the TGFBI gene mutations at codon 124 in exon 4 and codon 555 in exon 12. It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation. Read More

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http://dx.doi.org/10.1038/eye.2017.265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770725PMC
January 2018
6 Reads

Recurrence of Granular Corneal Dystrophy Type 1 After Phototherapeutic Keratectomy, Lamellar Keratoplasty, and Penetrating Keratoplasty in a Single Population.

Cornea 2017 Oct;36(10):1227-1232

*Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada; †Cornea Research Foundation of America, Indianapolis, IN; and ‡Price Vision Group, Indianapolis, IN.

Purpose: To describe the recurrence of granular corneal dystrophy type 1 (GCD1) after penetrating keratoplasty (PKP), anterior lamellar keratoplasty (ALK), deep anterior lamellar keratoplasty (DALK), and phototherapeutic keratectomy (PTK) in a single population. The time required to achieve best-corrected visual acuity (BCVA) after each intervention was also analyzed.

Methods: Retrospective review of all patients with GCD1 from a single center between 1989 and 2016. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001303DOI Listing
October 2017
8 Reads

Intracorneal melatonin delivery using 2-hydroxypropyl-β-cyclodextrin ophthalmic solution for granular corneal dystrophy type 2.

Int J Pharm 2017 Aug 8;529(1-2):608-616. Epub 2017 Jul 8.

College of Pharmacy, Yonsei University, 85 Songdogwahak-ro, Yeonsu-gu, Incheon, 21983, Republic of Korea; Yonsei Institute of Pharmaceutical Sciences, Incheon, 21983, Republic of Korea. Electronic address:

Melatonin (MT), an effective antioxidant, has therapeutic implications for granular corneal dystrophy type 2 (GCD2) treatment. Eye drop formulations containing cyclodextrins (CDs) were studied with the objective of improving MT solubility, stability, and ocular absorption, while decreasing eye irritation. MT complexes with αCD, βCD, γCD, and 2-hydroxypropyl-βCD (HPβCD) were characterized by phase solubility studies, which demonstrated Higuchi's A-type phase solubility profiles. Read More

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http://dx.doi.org/10.1016/j.ijpharm.2017.07.016DOI Listing
August 2017
14 Reads

[Corneal dystrophies].

Authors:
J-L Bourges

J Fr Ophtalmol 2017 Sep 15;40(7):606-621. Epub 2017 Jun 15.

Université Paris Descartes, Sorbonne Paris Cité, 15, rue École-de-Médecine, 75006 Paris, France; Unité d'ophtalmologie de l'Hôtel-Dieu, service d'ophtalmologie, hôpitaux universitaires Paris Centre, Assistance publique-Hôpitaux de Paris, 1, place du Parvis-Notre-Dame, 75004 Paris, France; Équipe 17, Inserm UMRS 1138, centre de recherche des Cordeliers, 15, rue de l'École-de-Médecine, 75006 Paris, France. Electronic address:

Degenerative or hereditary corneal diseases are sometimes difficult to discriminate. Corneal dystrophies affect approximately 0.09 % of the population. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01815512173016
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http://dx.doi.org/10.1016/j.jfo.2017.02.004DOI Listing
September 2017
7 Reads

Corneal dystrophies.

Authors:
J-L Bourges

J Fr Ophtalmol 2017 Jun 3;40(6):e177-e192. Epub 2017 Jun 3.

Université Paris Descartes, Sorbonne Paris Cité, 15, rue de l'École-de-Médecine, 75006 Paris, France; Ophthalmology Unit, Ophthalmology Service, Hôtel-Dieu, Hôpitaux Universitaires Paris Centre, Assistance publique-Hôpitaux de Paris, 1, place du Parvis-Notre-Dame, 75004 Paris, France; Équipe 17, Inserm UMRS 1138, Centre de Recherche des Cordeliers, 15, rue de l'École-de-Médecine, 75006 Paris, France. Electronic address:

Degenerative or hereditary corneal diseases are sometimes difficult to discriminate. Corneal dystrophies affect approximately 0.09% of the population. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01815512173020
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http://dx.doi.org/10.1016/j.jfo.2017.05.003DOI Listing
June 2017
7 Reads

Melatonin reduces endoplasmic reticulum stress and corneal dystrophy-associated TGFBIp through activation of endoplasmic reticulum-associated protein degradation.

J Pineal Res 2017 Oct 18;63(3). Epub 2017 Jul 18.

Department of Ophthalmology, Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Endoplasmic reticulum (ER) stress is emerging as a factor for the pathogenesis of granular corneal dystrophy type 2 (GCD2). This study was designed to investigate the molecular mechanisms underlying the protective effects of melatonin on ER stress in GCD2. Our results showed that GCD2 corneal fibroblasts were more susceptible to ER stress-induced death than were wild-type cells. Read More

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http://dx.doi.org/10.1111/jpi.12426DOI Listing
October 2017
74 Reads