501 results match your criteria Dystrophy Lattice


Characterization of neurite dystrophy after trauma by high speed structured illumination microscopy and lattice light sheet microscopy.

J Neurosci Methods 2018 Dec 6;312:154-161. Epub 2018 Dec 6.

Department of Neurosurgery, NorthShore University HealthSystem, Evanston, IL, USA. Electronic address:

Background: Unbiased screening studies have repeatedly identified actin-related proteins as one of the families of proteins most influenced by neurotrauma. Nevertheless, the status quo model of cytoskeletal reorganization after neurotrauma excludes actin and incorporates only changes in microtubules and intermediate filaments. Actin is excluded in part because it is difficult to image with conventional techniques. Read More

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http://dx.doi.org/10.1016/j.jneumeth.2018.12.005DOI Listing
December 2018

Dystrophin As a Molecular Shock Absorber.

ACS Nano 2018 Nov 27. Epub 2018 Nov 27.

Department of Physics , National University of Singapore , Singapore 117551.

Dystrophin is the largest protein isoform (427 kDa) expressed from the gene defective in Duchenne muscular dystrophy, a lethal muscle-wasting and genetically inherited disease. Dystrophin, localized within a cytoplasmic lattice termed costameres, connects the intracellular cytoskeleton of a myofiber through the cell membrane (sarcolemma) to the surrounding extracellular matrix. In spite of its mechanical regulation roles in stabilizing the sarcolemma during muscle contraction, the underlying molecular mechanism is still elusive. Read More

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http://dx.doi.org/10.1021/acsnano.8b05721DOI Listing
November 2018

Matrix-Assisted Laser Desorption Ionization Mass Spectrometry Imaging of Key Proteins in Corneal Samples from Lattice Dystrophy Patients with TGFBI-H626R and TGFBI-R124C Mutations.

Proteomics Clin Appl 2018 Nov 2:e1800053. Epub 2018 Nov 2.

11 Third Hospital Avenue, 168751, Singapore.

Scope: The purpose of this study is to identify and visualize the spatial distribution of proteins present in amyloid corneal deposits of TGFBI-CD patients using Mass Spectrometry Imaging (MSI) and compare it with healthy control cornea. Corneal Dystrophies (CD) constitute a group of genetically inherited protein aggregation disorders that affects different layers of the cornea. With accumulated protein deposition, the cornea becomes opaque with decreased visual acuity. Read More

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http://doi.wiley.com/10.1002/prca.201800053
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http://dx.doi.org/10.1002/prca.201800053DOI Listing
November 2018
1 Read

[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug;35(4):518-521

Center of Ophthalmology, Taizhou Municipal Hospital, Taizhou, Zhejiang 318000, China.

Objective: To explore the clinical features and mutation of TGFBI gene in a Chinese pedigree affected with lattice corneal dystrophy (LCD).

Methods: Genomic DNA was extracted from 35 members including 11 patients from the pedigree. The 17 exons and splicing region of introns of the TGFBI gene were amplified by PCR. Read More

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http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.1003-94
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.04.013DOI Listing
August 2018
11 Reads

Polymicrobial Keratitis With Cryptococcus curvatus, Candida parapsilosis, and Stenotrophomonas maltophilia After Penetrating Keratoplasty: A Rare Case Report With Literature Review.

Eye Contact Lens 2018 Jun 25. Epub 2018 Jun 25.

Sunderland Eye Infirmary (D.S.J.T., S.J.M., and S.G.), Sunderland, United Kingdom; Department of Microbiology (G.B. and R.K.), Sunderland Royal Hospital, Sunderland, United Kingdom; Histopathology Department (L.D.I.), Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; and Mycology Reference Laboratory (E.J.), Public Health England South West Laboratory, Bristol, United Kingdom.

Objectives: To report the first case of fungal keratitis caused by Cryptococcus curvatus after penetrating keratoplasty (PK) in an immunocompetent patient and to describe its therapeutic challenge and long-term outcome.

Methods: An interventional case report.

Results: A 54-year-old female patient underwent right PK for lattice dystrophy. Read More

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http://dx.doi.org/10.1097/ICL.0000000000000517DOI Listing
June 2018
8 Reads

Prevalence of stromal corneal dystrophies in Lahore.

J Pak Med Assoc 2018 Apr;68(4):663-665

Department of Biotechnology, Lahore College for Women University, Lahore.

To determine the prevalence of Stromal Corneal Dystrophies (SCDs) in patient from Lahore hospitals. The study was performed between November, 2014 to July 2015 at the Layton Rahmatullah Benevolent Trust Hospital, Mughal Hospital, Mayo Hospital and General Hospital, Lahore. For the clinical evaluation of SCD by ophthalmologists examination of cornea was done by biomicroscopy, specular microscopy, topography, keratometry, orbscan and far visual acuity. Read More

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April 2018
4 Reads

Cataract surgery after deep anterior lamellar keratoplasty and penetrating keratoplasty in age- and disease-matched eyes.

J Cataract Refract Surg 2018 Apr 25;44(4):496-503. Epub 2018 Apr 25.

From the Departments of Ophthalmology, Tokyo Dental College Ichikawa General Hospital (Den, Shimazaki), Chiba, and Keio University School of Medicine (Shimmura, Shimazaki), Tokyo, Japan.

Purpose: To assess the efficacy and safety of cataract surgery after deep anterior lamellar keratoplasty (DALK) and penetrating keratoplasty (PKP).

Setting: Tokyo Dental College Ichikawa General Hospital, Chiba, Japan.

Design: Retrospective case series. Read More

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http://dx.doi.org/10.1016/j.jcrs.2018.01.024DOI Listing

Deep anterior lamellar keratoplasty or penetrating keratoplasty in lattice corneal dystrophy.

Authors:
Ritu Arora

Indian J Ophthalmol 2018 05;66(5):673-674

Department of Ophthalmology, Division of Cornea and Refractive Surgery, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.4103/ijo.IJO_393_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939161PMC
May 2018
1 Read

Outcomes of keratoplasty in lattice corneal dystrophy in a large cohort of Indian eyes.

Indian J Ophthalmol 2018 05;66(5):666-672

Tej Kohli Cornea Institute, L V Prasad Eye Institute, Hyderabad, India.

Purpose: The purpose of this study is to evaluate the outcomes of keratoplasty for lattice corneal dystrophy (LCD) performed at a tertiary eye care center.

Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have LCD (72 eyes of 57 patients) and underwent either penetrating keratoplasty (PK, 58 eyes of 46 patients) or deep anterior lamellar keratoplasty (DALK, 14 eyes of 13 patients) between the years 1987 and 2014 was performed. The main outcome measures included demographics, clinical features, and outcomes of keratoplasty. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1150_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939160PMC
May 2018
5 Reads
1 Citation
0.930 Impact Factor

[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

The Gelsolin Pathogenic D187N Mutant Exhibits Altered Conformational Stability and Forms Amyloidogenic Oligomers.

Biochemistry 2018 04 11;57(16):2359-2372. Epub 2018 Apr 11.

Kusuma School of Biological Sciences , IIT Delhi , New Delhi 110016 , India.

Gelsolin is an actin-severing protein that attains an open functional conformation in the presence of Ca or low pH. Mutations (D187N/Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2). Here, we show that the D187N mutant gelsolin in a Ca depleted, low pH-activated, open conformation could assemble into amyloidogenic oligomers without necessarily undergoing the specific proteolytic step. Read More

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http://dx.doi.org/10.1021/acs.biochem.8b00039DOI Listing
April 2018
1 Read

Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.

Hum Mol Genet 2018 06;27(12):2090-2100

Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA.

Delivery of miniaturized dystrophin genes via adeno-associated viral vectors is one leading approach in development to treat Duchenne muscular dystrophy. Here we directly compared the functionality of five mini- and micro-dystrophins via skeletal muscle-specific transgenic expression in dystrophin-deficient mdx mice. We evaluated their ability to rescue defects in the microtubule network, passive stiffness and contractility of skeletal muscle. Read More

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https://academic.oup.com/hmg/article/27/12/2090/4956189
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http://dx.doi.org/10.1093/hmg/ddy113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985723PMC
June 2018
5 Reads

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

Am J Case Rep 2018 Mar 30;19:374-381. Epub 2018 Mar 30.

Division of Hematology/Oncology, Loma Linda University School of Medicine, Loma Linda, CA, USA.

BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890616PMC
March 2018
4 Reads

Transplantation Blues: Inadvertent Staining of Amyloid Deposits With Trypan Blue.

Cornea 2018 Jul;37(7):824-828

Department of Ophthalmology, University Hospital, Saint-Etienne, France.

Purpose: To describe inadvertent persistent staining of stromal amyloid deposits by trypan blue (TB) after penetrating keratoplasty (PK) and Descemet membrane endothelial keratoplasty (DMEK) performed in patients with corneal amyloidosis.

Methods: Case series of patients with corneal amyloidosis in whom intraoperative TB was used.

Results: One patient, hospitalized for acute rejection 6 weeks after DMEK, presented with an intense blue staining of small, spindle-shaped structures in the anterior half of the cornea. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001591DOI Listing
July 2018
8 Reads

Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease.

Gastroenterology 2018 05 13;154(6):1602-1619.e1. Epub 2018 Mar 13.

Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan; Åbo Akademi University, Turku, Finland.

The nuclear lamina is a multi-protein lattice composed of A- and B-type lamins and their associated proteins. This protein lattice associates with heterochromatin and integral inner nuclear membrane proteins, providing links among the genome, nucleoskeleton, and cytoskeleton. In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy. Read More

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http://dx.doi.org/10.1053/j.gastro.2018.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038707PMC
May 2018
1 Read

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

J Mol Biol 2018 Apr 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
3 Reads

Altered myofilament structure and function in dogs with Duchenne muscular dystrophy cardiomyopathy.

J Mol Cell Cardiol 2018 Jan 22;114:345-353. Epub 2017 Dec 22.

INSERM U1046, CNRS UMR 9214, Université de Montpellier, Physiologie et Médecine Expérimentale du cœur et des muscles - PHYMEDEXP, CHU Arnaud de Villeneuve, 34295 Montpellier cedex 05, France.. Electronic address:

Aim: Duchenne Muscular Dystrophy (DMD) is associated with progressive depressed left ventricular (LV) function. However, DMD effects on myofilament structure and function are poorly understood. Golden Retriever Muscular Dystrophy (GRMD) is a dog model of DMD recapitulating the human form of DMD. Read More

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http://dx.doi.org/10.1016/j.yjmcc.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800996PMC
January 2018
8 Reads
4.660 Impact Factor

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

J Cataract Refract Surg 2017 Dec 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
16 Reads

Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy.

Biomed Rep 2017 Oct 30;7(4):314-318. Epub 2017 Aug 30.

Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.

Lattice corneal dystrophy type I (LCDI) is associated with a large number of missense mutations in the transforming growth factor β induced () gene. The aim of the present study was to analyze mutation in a Chinese family with LCDI, and to describe the clinical features and phenotype-genotype correlation within this family. Three generations of this family with LCDI were enrolled in the current study. Read More

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https://www.spandidos-publications.com/10.3892/br.2017.975
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http://dx.doi.org/10.3892/br.2017.975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649572PMC
October 2017
16 Reads

Unilateral lattice corneal dystrophy in a young female: A unique case report.

Nepal J Ophthalmol 2017 Jan;9(18):66-69

Background: Unilateral lattice corneal dystrophy is a rare entity.

Objective: To highlight the evidence of unilateral lattice corneal dystrophy in a young female.

Case: A young 28 years old female presented to the outpatient department of Ophthalmology with slowly progressive diminution of vision in left eye for one month. Read More

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http://dx.doi.org/10.3126/nepjoph.v9i1.17537DOI Listing
January 2017
2 Reads

The First Argentinian Family with Familial Amyloidosis of the Finnish Type.

Case Rep Ophthalmol 2017 May-Aug;8(2):446-451. Epub 2017 Aug 31.

Department of Ophthalmology, Hospital de Clínicas José de San Martin, Universidad de Buenos Aires (UBA), Buenos Aires, Argentina.

Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Read More

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http://dx.doi.org/10.1159/000479729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597921PMC
August 2017
2 Reads

CaF nanoparticles as surface carriers of GCAP1, a calcium sensor protein involved in retinal dystrophies.

Nanoscale 2017 Aug;9(32):11773-11784

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy.

CaF-based nanoparticles (NP) are promising biocompatible tools for nanomedicine applications. The structure of the NP crystal lattice allows for specific interactions with Ca-binding proteins through their EF-hand cation binding motifs. Here we investigated the interaction of 23 nm citrate-coated CaF NP with a calcium sensor protein GCAP1 that is normally expressed in photoreceptor cells and involved in the regulation of the early steps of vision. Read More

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http://xlink.rsc.org/?DOI=C7NR03288A
Publisher Site
http://dx.doi.org/10.1039/c7nr03288aDOI Listing
August 2017
2 Reads

The Changing Face of Aging: Highly Sulfated Glycosaminoglycans Induce Amyloid Formation in a Lattice Corneal Dystrophy Model Protein.

J Mol Biol 2017 Sep 21;429(18):2755-2764. Epub 2017 Jul 21.

Interdisciplinary Nanoscience Center (iNANO) and Center for Insoluble Protein Structures (inSPIN), Aarhus University, Gustav Wieds Vej 14, DK-8000 Aarhus C, Denmark; Department of Molecular Biology and Genetics, Aarhus University, Gustav Wieds Vej 10C, DK-8000 Aarhus C, Denmark. Electronic address:

Glycosaminoglycans (GAGs) are related to multiple biological functions and diseases. There is growing evidence that GAG concentration and sulfate content increase with age. The destabilizing mutation A546T in the corneal protein TGFBIp leads to lattice-type corneal dystrophy, but symptoms only appear in the fourth decade of life. Read More

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http://dx.doi.org/10.1016/j.jmb.2017.07.014DOI Listing
September 2017
14 Reads

Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.

J Proteome Res 2017 08 20;16(8):2899-2913. Epub 2017 Jul 20.

Singapore Eye Research Institute , 11 Third Hospital Avenue, Singapore 168751.

TGFBI-associated corneal dystrophies are inherited disorders caused by TGFBI gene variants that promote deposition of mutant protein (TGFBIp) as insoluble aggregates in the cornea. Depending on the type and position of amino acid substitution, the aggregates may be amyloid fibrillar, amorphous globular or both, but the molecular mechanisms that drive these different patterns of aggregation are not fully understood. In the current study, we report the protein composition of amyloid corneal aggregates from lattice corneal dystrophy patients of Asian origin with H626R and R124C mutation and compared it with healthy corneal tissues via LC-MS/MS. Read More

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http://dx.doi.org/10.1021/acs.jproteome.7b00188DOI Listing
August 2017
17 Reads

Long-term clinical outcome of femtosecond laser-assisted lamellar keratectomy with phototherapeutic keratectomy in anterior corneal stromal dystrophy.

Br J Ophthalmol 2018 01 13;102(1):31-36. Epub 2017 Jun 13.

Department of Ophthalmology, ChungAng University Hospital, Seoul, South Korea.

Purpose: To evaluate long-term outcome of femtosecond laser-assisted lamellar keratectomy (FLK) with phototherapeutic keratectomy (PTK) in patients with anterior corneal stromal dystrophies.

Methods: A total of 10 eyes from seven patients who underwent FLK were included. The patients had suffered from recurrent corneal erosion or visual disturbance in anterior corneal dystrophies (five Avellino dystrophies and two lattice dystrophies). Read More

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http://dx.doi.org/10.1136/bjophthalmol-2017-310189DOI Listing
January 2018
19 Reads

Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.

Int J Ophthalmol 2017 18;10(3):343-347. Epub 2017 Mar 18.

Eye Hospital, the First Affiliated Hospital, Harbin Medical University, Harbin 150001, Heilongjiang Province, China.

Aim: To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI).

Methods: A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Read More

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http://dx.doi.org/10.18240/ijo.2017.03.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360766PMC
March 2017
2 Reads

Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients.

Biochem J 2017 05 9;474(10):1705-1725. Epub 2017 May 9.

Singapore Eye Research Institute, The Academia, 20 College Road, Discovery Tower, Singapore

Corneal stromal dystrophies are a group of genetic disorders that may be caused by mutations in the transforming growth factor β-induced () gene which results in the aggregation and deposition of mutant proteins in various layers of the cornea. The type of amino acid substitution dictates the age of onset, anatomical location of the deposits, morphological features of deposits (amyloid, amorphous powder or a mixture of both forms) and the severity of disease presentation. It has been suggested that abnormal turnover and aberrant proteolytic processing of the mutant proteins result in the accumulation of insoluble protein deposits. Read More

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http://dx.doi.org/10.1042/BCJ20170125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632800PMC
May 2017
13 Reads

TGFBI gene mutations analysis in Chinese families with corneal dystrophies.

Mol Med Rep 2017 May 30;15(5):3198-3202. Epub 2017 Mar 30.

Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, P.R. China.

The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination. Read More

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http://dx.doi.org/10.3892/mmr.2017.6414DOI Listing
May 2017
8 Reads

Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type.

Case Rep Med 2017 31;2017:2843417. Epub 2017 Jan 31.

Centro Hospitalar do Porto, Hospital de Santo António, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.

Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. Read More

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http://dx.doi.org/10.1155/2017/2843417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306973PMC
January 2017
3 Reads

Independent variability of microtubule perturbations associated with dystrophinopathy.

Hum Mol Genet 2016 11;25(22):4951-4961

Department of Biochemistry, Molecular Biology, and Biophysics, and Program in Molecular, Cellular, Developmental Biology, and Genetics, University of Minnesota - Twin Cities, Minneapolis, MN, USA.

Absence of the protein dystrophin causes Duchenne muscular dystrophy. Dystrophin directly binds to microtubules in vitro, and its absence in vivo correlates with disorganization of the subsarcolemmal microtubule lattice, increased detyrosination of α-tubulin, and altered redox signaling. We previously demonstrated that the dystrophin homologue utrophin neither binds microtubules in vitro nor rescues microtubule lattice organization when overexpressed in muscles of dystrophin-deficient mdx mice. Read More

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http://dx.doi.org/10.1093/hmg/ddw318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078591PMC
November 2016
5 Reads

The effect of abnormal stromal protein on the biomechanical properties of the cornea.

Clin Exp Optom 2017 11 1;100(6):729-731. Epub 2017 Feb 1.

Department of Ophthalmology, New Zealand National Eye Centre, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1111/cxo.12510DOI Listing
November 2017
2 Reads

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.

J Peripher Nerv Syst 2017 03;22(1):59-63

Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Read More

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http://dx.doi.org/10.1111/jns.12200DOI Listing
March 2017
24 Reads

Very early endothelial cell loss after penetrating keratoplasty with organ-cultured corneas.

Br J Ophthalmol 2017 08 13;101(8):1113-1118. Epub 2016 Dec 13.

Corneal Graft Biology, Engineering and Imaging Laboratory, EA 2521, Faculty of Medicine, Jean Monnet University, Saint-Etienne, France.

Aims: After keratoplasty, postoperative endothelial cell loss is calculated between the eye bank endothelial cell density (ebECD) and the postoperative specular microscopy (SM). To elucidate the very early cell loss, always described after penetrating keratoplasty (PK), we designed two complementary studies.

Methods: (1) Clinical prospective study of 90 consecutive PKs (keratoconus, Fuchs' corneal dystrophy, lattice dystrophy, bullous keratopathy) with organ-cultured corneas and postoperative follow-up by SM at day 5 (D5), D15, month 1 (M1) and M3. Read More

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http://dx.doi.org/10.1136/bjophthalmol-2016-309615DOI Listing
August 2017
9 Reads

Genetic analysis of and in Turkish patients with corneal dystrophies: Five novel variations in .

Mol Vis 2016 26;22:1267-1279. Epub 2016 Oct 26.

Hacettepe Faculty of Medicine, Medical Biology Department, Ankara, Turkey.

Purpose: To identify pathogenic variations in () and () 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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082643PMC
January 2018
22 Reads

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

Ophthalmic Genet 2016 12 30;37(4):473-474. Epub 2016 Mar 30.

a Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Prague , Czech Republic.

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http://dx.doi.org/10.3109/13816810.2015.1126615DOI Listing
December 2016
7 Reads

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.

Invest Ophthalmol Vis Sci 2016 Oct;57(13):5407-5414

University College London (UCL), Institute of Ophthalmology, London, United Kingdom.

Purpose: The majority of anterior corneal dystrophies are caused by dominant mutations in TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal TGFBI dystrophies. Most cases of epithelial basement membrane dystrophy (EBMD) are thought to result from a degenerative (nongenetic) process; however, a minority of cases are associated with specific TGFBI mutations. We evaluated the spectrum of TGFBI mutations and associated phenotypes in a United Kingdom cohort with typical epithelial-stromal TGFBI dystrophies and an EBMD cohort. Read More

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.16-19818DOI Listing
October 2016
33 Reads

[Objective method to recognize warning signs in peripheral vitreoretinal dystrophies].

Vestn Oftalmol 2016 Jul-Aug;132(4):54-61

Khabarovsk branch of the Academician S.N. Fyodorov IRTC 'Eye Microsurgery', Ministry of Health of the Russian Federation, 211 Tikhookeanskaya St., Khabarovsk, Russian Federation, 680033; Far Eastern State Medical University, 35 Muravyeva-Amurskogo St., Khabarovsk, Russian Federation, 680000.

Aim: to compare the effectiveness of biomicroscopy (BMS) and optical coherence tomography (OCT) in recognizing prognostically unfavorable signs in peripheral vitreoretinal dystrophy (PVRD) patients.

Material And Methods: A total of 131 cases of equatorial PVRD (91 eyes of 56 patients) were assessed. The mean patient's age was 24. Read More

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http://dx.doi.org/10.17116/oftalma2016132454-60DOI Listing
February 2017
2 Reads

Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies.

PLoS One 2016 18;11(8):e0161075. Epub 2016 Aug 18.

Department of Ophthalmology, Ichikawa General Hospital, Tokyo Dental College, Chiba, Japan.

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. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161075PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990250PMC
July 2017
17 Reads

Variant lattice corneal dystrophy associated with compound heterozygous mutations in the gene.

Br J Ophthalmol 2017 04 11;101(4):509-513. Epub 2016 Jul 11.

Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, California, USA.

Background/aims: To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced () gene.

Methods: Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light microscopic examination of an excised corneal button and a peripheral blood samples were collected for screening. Read More

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http://dx.doi.org/10.1136/bjophthalmol-2015-307602DOI Listing
April 2017
4 Reads

TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.

Genet Test Mol Biomarkers 2016 Jul 27;20(7):388-92. Epub 2016 Jun 27.

1 Department of Ophthalmology, The First Affiliated Hospital of Xi'an Jiao Tong University , Xi'an, Shanxi, China .

Aims: To identify transforming growth factor beta-induced (TGFBI) gene mutations in four Chinese families affected by corneal dystrophies.

Methods: In this study, three families (21 patients and 18 normal relatives), respectively, with Reis-Bücklers corneal dystrophy (RBCD), classic lattice corneal dystrophy (LCDI), and variant LCD (LCDI/IIIA) were assessed. All subjects underwent a complete ophthalmological evaluation, including biomicroscopic inspection and dilated fundus examination. Read More

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http://dx.doi.org/10.1089/gtmb.2015.0315DOI Listing
July 2016
15 Reads
1 Citation

The Oskar Fehr Lecture.

Authors:
J S Weiss

Klin Monbl Augenheilkd 2016 Jun 17;233(6):708-12. Epub 2016 Jun 17.

Department of Ophthalmology, Louisiana State University LSU Eye Center, New Orleans, Louisiana, United States.

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. Read More

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http://dx.doi.org/10.1055/s-0042-100735DOI Listing
June 2016
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Epigallocatechin Gallate Remodels Fibrils of Lattice Corneal Dystrophy Protein, Facilitating Proteolytic Degradation and Preventing Formation of Membrane-Permeabilizing Species.

Biochemistry 2016 04 14;55(16):2344-57. Epub 2016 Apr 14.

Interdisciplinary Nanoscience Center (iNANO), Department of Molecular Biology and Genetics, Center for Insoluble Protein Structures (inSPIN), Aarhus University , Aarhus, Denmark.

Lattice corneal dystrophy is associated with painful recurrent corneal erosions and amyloid corneal opacities induced by transforming growth factor β-induced protein (TGFBIp) that impairs vision. The exact mechanism of amyloid fibril formation in corneal dystrophy is unknown but has been associated with destabilizing mutations in the fourth fasciclin 1 (Fas1-4) domain of TGFBIp. The green tea compound epigallocatechin gallate (EGCG) has been found to inhibit fibril formation of various amyloidogenic proteins in vitro. Read More

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http://dx.doi.org/10.1021/acs.biochem.6b00063DOI Listing
April 2016
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Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.

Int J Ophthalmol 2016 18;9(2):198-203. Epub 2016 Feb 18.

State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong Academy of Medical Sciences, Qingdao 266071, Shandong Province, China.

Aim: To uncover the mutations profile of transforming growth factor beta-induced (TGFBI) gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations.

Methods: Forty-two subjects (6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients) of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Read More

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http://dx.doi.org/10.18240/ijo.2016.02.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761727PMC
March 2016
5 Reads

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.

Ann Lab Med 2016 May;36(3):259-62

Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea.

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. Read More

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http://dx.doi.org/10.3343/alm.2016.36.3.259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773268PMC
May 2016
8 Reads
3 Citations
1.481 Impact Factor

Gender differences in the clinical course of Finnish gelsolin amyloidosis.

Amyloid 2016 23;23(1):33-8. Epub 2016 Jan 23.

a Department of Neurology , Clinical Neurosciences, University of Helsinki and Helsinki University Hospital , Helsinki , Finland and.

Purpose: To investigate gender differences in Finnish gelsolin amyloidosis (AGel amyloidosis).

Patients And Methods: AGel amyloidosis patients, who were members of Finnish Amyloidosis Association (SAMY), filled in a questionnaire compiling known and suspected aspects of their disease. Telephone interviews and hospital medical records, when available, complemented the questionnaire. Read More

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http://dx.doi.org/10.3109/13506129.2015.1119111DOI Listing
December 2016
15 Reads

Mutational spectrum of Korean patients with corneal dystrophy.

Clin Genet 2016 06 10;89(6):678-89. Epub 2016 Feb 10.

Department of Ophthalmology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis was performed to characterize the genetic spectrum of corneal dystrophies in Korean patients. Patients with various corneal dystrophies underwent thorough ophthalmic examination, histopathologic examination, and Sanger sequencing. Read More

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http://dx.doi.org/10.1111/cge.12726DOI Listing
June 2016
4 Reads

Pathogenesis and treatments of TGFBI corneal dystrophies.

Prog Retin Eye Res 2016 Jan 28;50:67-88. Epub 2015 Nov 28.

Corneal Dystrophy Research Institute, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, South Korea; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, South Korea; BK21 Plus Project for Medical Science and Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, South Korea. Electronic address:

Transforming growth factor beta-induced (TGFBI) corneal dystrophies are a group of inherited progressive corneal diseases. Accumulation of transforming growth factor beta-induced protein (TGFBIp) is involved in the pathogenesis of TGFBI corneal dystrophies; however, the exact molecular mechanisms are not fully elucidated. In this review article, we summarize the current knowledge of TGFBI corneal dystrophies including clinical manifestations, epidemiology, most common and recently reported associated mutations for each disease, and treatment modalities. Read More

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http://dx.doi.org/10.1016/j.preteyeres.2015.11.002DOI Listing
January 2016
9 Reads

Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series.

Cornea 2016 Jan;35(1):6-13

*Department of Corneal and External Eye Diseases, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; †Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom; and ‡Department of Ophthalmology, Medical University of Innsbruck, Austria.

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. Read More

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http://dx.doi.org/10.1097/ICO.0000000000000665DOI Listing
January 2016
7 Reads

Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies.

Biomed Res Int 2015 17;2015:805367. Epub 2015 Sep 17.

Ophthalmology Clinic, Medical University of Silesia, 40-760 Katowice, Poland.

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. Automated and manual central corneal thickness (aCCT, mCCT), anterior chamber depth (ACD), and nasal and temporal trabecular iris angle (nTIA, tTIA) were measured and compared with Bland-Altman plots. Read More

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http://dx.doi.org/10.1155/2015/805367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589615PMC
June 2016
12 Reads