535 results match your criteria Dystrophy Granular


[Corneal dystrophies in optical coherence tomography].

Ophthalmologe 2018 Dec 11. Epub 2018 Dec 11.

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
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http://dx.doi.org/10.1007/s00347-018-0832-8DOI Listing
December 2018
2 Reads

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

Cornea 2018 Nov 27. Epub 2018 Nov 27.

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
November 2018
3 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 Nov;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
1 Read

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
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http://dx.doi.org/10.1097/ICO.0000000000001761DOI Listing
January 2019
1 Read

Granular corneal dystrophy: an enigma resolved.

Int Ophthalmol 2018 Jun 25. 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
June 2018
3 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 Aug 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
2 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

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

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
7 Reads

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

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
5 Reads

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
2 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
6 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
2 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
3 Reads

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

Neuroreport 2018 Feb;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
5 Reads

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

[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
6 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 Dec 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
5 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
3 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
3 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
5 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
3 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
2 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
32 Reads

Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.

Graefes Arch Clin Exp Ophthalmol 2017 Sep 31;255(9):1779-1786. Epub 2017 May 31.

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

Purpose: This study is to summarize the concurrent keratoconus (KC) and granular corneal dystrophy (GCD) phenotype and identify the underlying genetic cause in a 23-year-old male patient.

Methods: A detailed family history and clinical data from the patient and his parents were collected by ophthalmologic examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Read More

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http://dx.doi.org/10.1007/s00417-017-3699-5DOI Listing
September 2017
5 Reads

Guiding flying-spot laser transepithelial phototherapeutic keratectomy with optical coherence tomography.

J Cataract Refract Surg 2017 Apr;43(4):525-536

From the Center for Ophthalmic Optics and Lasers (Li, Yokogawa, Tang, Chamberlain, Zhang, Huang), Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon, USA; and the Department of Ophthalmology (Yokogawa), Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. Electronic address:

Purpose: To analyze transepithelial phototherapeutic keratectomy (PTK) results using optical coherence tomography (OCT) and develop a model to guide the laser dioptric and depth settings.

Setting: Casey Eye Institute, Portland, Oregon, USA.

Design: Prospective nonrandomized case series. Read More

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http://dx.doi.org/10.1016/j.jcrs.2017.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443118PMC
April 2017
24 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

Neuroaxonal Dystrophy in a Flock of Pied Imperial Pigeons (Ducula bicolor).

J Comp Pathol 2017 May 6;156(4):451-457. Epub 2017 Apr 6.

International Zoo Veterinary Group Pathology, Station House, Parkwood Street, Keighley, UK.

Five juvenile pied imperial pigeons (Ducula bicolor) presented with neurological signs including torticollis, ataxia and poor flying ability. All were humanely destroyed and submitted for post-mortem examination. Microscopically, the most significant findings were in the brain and spinal cord. Read More

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http://dx.doi.org/10.1016/j.jcpa.2017.02.006DOI Listing
May 2017
1 Read

TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.

Sci Rep 2017 04 4;7(1):596. Epub 2017 Apr 4.

Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of China Health Ministry, Shanghai, China.

This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed with granular corneal dystrophy (GCD) prior to phototherapeutic keratectomy (PTK), also calculated the mutation rate of subjects with normal corneas, but positive family history. Clinical GCD outpatients and consanguineous family members were enrolled in this study. Among total 42 subjects: 24 patients from 23 unrelated families had typical signs of GCD on corneas; 5 patients from 5 unrelated families had atypical signs; 13 subjects from 11 unrelated families had no corneal signs but positive family history. Read More

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http://dx.doi.org/10.1038/s41598-017-00716-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429662PMC
April 2017
14 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

Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.

Cornea 2017 Feb;36(2):210-216

*Stein Eye Institute, UCLA, Los Angeles, CA; †Department of Cornea and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; ‡Department of Ophthalmology, Yonsei University, Seoul, Korea; §Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; and ¶Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.

Purpose: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI).

Methods: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5298206PMC
February 2017
5 Reads

Visual Outcomes Following Deep Anterior Lamellar Keratoplasty in Granular Corneal Dystrophy Types 1 and 2.

Korean J Ophthalmol 2016 Dec 6;30(6):481-482. Epub 2016 Dec 6.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.3341/kjo.2016.30.6.481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5156623PMC
December 2016
7 Reads

[Opacification of a hydrophilic acrylic intraocular lens after DMEK : A material analysis].

Ophthalmologe 2017 Sep;114(9):832-837

David J Apple International Laboratory for Ocular Pathology and International Vision Correction Research Centre (IVCRC), Universitäts-Augenklinik Heidelberg, Heidelberg, Deutschland.

Objective: Calcification of a hydrophilic intraocular lens (IOL) is a rare complication. We report on the analysis of an opacified IOL, which was explanted 2 years after Descemet membrane endothelial keratoplasty (DMEK), using light and scanning electron microscopy, X‑ray spectroscopy and investigations on the optical bench.

Methods: In October 2012 a patient with pseudophakic keratopathy and Fuchs endothelial dystrophy underwent DMEK with double rebubbling. Read More

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http://dx.doi.org/10.1007/s00347-016-0394-6DOI Listing
September 2017
4 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

Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty for Recurrence of Granular Corneal Dystrophy in Postkeratoplasty Eyes.

Cornea 2017 Mar;36(3):300-303

Tej Kohli Cornea Institute, L V Prasad Eye Institute, L V Prasad Marg, Kallam Anji Reddy Campus, Hyderabad, India.

Purpose: To report the clinical and visual outcome of sutureless femtosecond laser-assisted anterior lamellar keratoplasty (FALK) for recurrent granular corneal dystrophy (GCD) in patients who had previously undergone penetrating keratoplasty and phototherapeutic keratectomy (PTK) performed for recurrent dystrophy in the grafted eyes.

Methods: Four eyes of 4 patients who underwent FALK for recurrence of GCD in previously grafted eyes and underwent PTK performed for initial recurrence in the grafts were included. Patients who had undergone FALK for other indications were excluded. Read More

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http://dx.doi.org/10.1097/ICO.0000000000001068DOI Listing
March 2017
10 Reads

A Case of Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy.

Case Rep Nephrol Dial 2016 Sep-Dec;6(3):106-113. Epub 2016 Sep 13.

Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Many types of inherited renal diseases have ocular features that occasionally support a diagnosis. The following study describes an unusual example of a 40-year-old woman with granular corneal dystrophy type II complicated by renal involvement. These two conditions may coincidentally coexist; however, there are some reports that demonstrate an association between renal involvement and granular corneal dystrophy type II. Read More

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https://www.karger.com/Article/FullText/449129
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http://dx.doi.org/10.1159/000449129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073658PMC
September 2016
18 Reads

Clinical and dermoscopic clues to differentiate pigmented nail bands: an International Dermoscopy Society study.

J Eur Acad Dermatol Venereol 2017 Apr 15;31(4):732-736. Epub 2016 Nov 15.

Dermatology Unit, Second University of Naples, Naples, Italy.

Background: Longitudinal melanonychia might be difficult to differentiate and the use of dermoscopy can be useful for the preoperative evaluation and management decision.

Objectives: The aim of our study was to investigate clinical and dermoscopic criteria of acquired longitudinal melanonychia in adults to identify the best predictors of melanoma using a multivariate analysis and to explore eventual new dermoscopic criteria for nail melanoma diagnosis.

Methods: In this retrospective observational study, 82 histopathologically diagnosed, acquired nail pigmented bands were collected and examined. Read More

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http://dx.doi.org/10.1111/jdv.13991DOI Listing
April 2017
9 Reads

New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.

BMC Ophthalmol 2016 Sep 2;16(1):158. Epub 2016 Sep 2.

Department of Ophthalmology, Affiliated Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, 3 Qingchun Road East, Hangzhou, 310016, Zhejiang, People's Republic of China.

Background: Reis-Bücklers corneal dystrophy (RBCD) was consistently reported as a corneal dystrophy only affected Bowman's layer and superficial corneal stroma, and superficial keratectomy was a recommendation surgery for treatment in literatures. The study reported new histopathological and ultrastructural findings in RBCD caused by the Arg124Leu mutation of transforming growth factor induced (TGFBI) gene in a four-generation Chinese pedigree.

Methods: Subjects including eight patients and seven unaffected family members received slit-lamp biomicroscopy and photography. Read More

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http://dx.doi.org/10.1186/s12886-016-0325-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010699PMC
September 2016
23 Reads

Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child.

Middle East Afr J Ophthalmol 2016 Jul-Sep;23(3):262-4

Department of Cornea, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

A 14-year-old male presented with decreased vision. Slit lamp examination indicated multiple anterior corneal stromal opacities with clear intervening spaces accompanied with superficial subepithelial lines arranged in a quasi-whorl-like fashion bilateral with greater prominence in the right eye. Corneal steepening associated with thinning was noted only in the right eye. Read More

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http://dx.doi.org/10.4103/0974-9233.186151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968150PMC
March 2017
4 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

Outcomes of photorefractive keratectomy instead of phototherapeutic keratectomy for patients with granular corneal dystrophy type 2.

Graefes Arch Clin Exp Ophthalmol 2016 Oct 11;254(10):1999-2004. Epub 2016 Aug 11.

Department of Ophthalmology, Osaka University Graduate School of Medicine, Room E7, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.

Purpose: The purpose of this study was to evaluate visual function and postoperative refractive errors in patients with granular corneal dystrophy type 2 (GCD2) and cataracts who underwent photorefractive keratectomy (PRK) instead of phototherapeutic keratectomy (PTK) following cataract surgery to avoid PTK-induced central island formation and reduce refractive errors after cataract surgery.

Methods: The medical records of 14 eyes from nine patients (one man and eight women; mean age, 69.0 ± 8. Read More

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http://link.springer.com/10.1007/s00417-016-3464-1
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http://dx.doi.org/10.1007/s00417-016-3464-1DOI Listing
October 2016
7 Reads

Pigment retinopathy in warmblood horses with equine degenerative myeloencephalopathy and equine motor neuron disease.

Vet Ophthalmol 2017 Jul 5;20(4):304-309. Epub 2016 Aug 5.

Large Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI, 48895, USA.

Objective: A pigment retinopathy has been reported in adult horses with equine motor neuron disease (EMND) arising from chronic α-tocopherol (α-TP) deficiency. A pigment retinopathy has not been identified in horses with neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) that affects genetically susceptible young horses with α-TP deficiency. The objective of this report is to describe, for the first time, a pigment retinopathy in a family of α-TP-deficient Warmbloods (WB) with clinically apparent NAD/EDM or EMND. Read More

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http://dx.doi.org/10.1111/vop.12417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292316PMC
July 2017
13 Reads

Dystrophin Distribution and Expression in Human and Experimental Temporal Lobe Epilepsy.

Front Cell Neurosci 2016 8;10:174. Epub 2016 Jul 8.

Department of Neurology, Maastricht University Medical Centre Maastricht, Netherlands.

Objective: Dystrophin is part of a protein complex that connects the cytoskeleton to the extracellular matrix. In addition to its role in muscle tissue, it functions as an anchoring protein within the central nervous system such as in hippocampus and cerebellum. Its presence in the latter regions is illustrated by the cognitive problems seen in Duchenne Muscular Dystrophy (DMD). Read More

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http://dx.doi.org/10.3389/fncel.2016.00174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937016PMC
July 2016
12 Reads

Alcohol Delamination of Corneal Epithelium in Recurrent Granular Dystrophy.

Ophthalmology 2016 09 15;123(9):2050-2. Epub 2016 Jul 15.

Queens Medical Centre, University Hospitals NHS Trust, UK; Academic Section of Ophthalmology, Larry A Donoso Laboratory for Eye Research, Division of Clinical Neuroscience, University of Nottingham, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.06.004DOI Listing
September 2016
10 Reads

4-Phenylbutyric acid reduces mutant-TGFBIp levels and ER stress through activation of ERAD pathway in corneal fibroblasts of granular corneal dystrophy type 2.

Biochem Biophys Res Commun 2016 09 1;477(4):841-846. Epub 2016 Jul 1.

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

Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene. In GCD2 corneal fibroblasts, secretion of the accumulated mutant TGFBI-encoded protein (TGFBIp) is delayed via the endoplasmic reticulum (ER)/Golgi-dependent secretory pathway. However, ER stress as the pathogenic mechanism underlying GCD2 has not been fully characterized. Read More

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http://dx.doi.org/10.1016/j.bbrc.2016.06.146DOI Listing
September 2016
19 Reads

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
5 Reads

Comparison of the accuracy of intraocular lens power calculations for cataract surgery in eyes after phototherapeutic keratectomy.

Jpn J Ophthalmol 2016 Sep 8;60(5):365-72. Epub 2016 Jun 8.

Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Purpose: To compare the accuracy of several methods of intraocular lens (IOL) power calculations used for cataract surgery in eyes treated with phototherapeutic keratectomy (PTK) that results in changes in the anterior corneal surface and axial length; these results make power calculations less predictable.

Methods: We evaluated the medical records of 23 eyes of 13 patients (mean age, 68.8 years; range 62-80 years) who underwent cataract surgery after PTK at Keio University Hospital, Tokyo, Japan. Read More

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http://dx.doi.org/10.1007/s10384-016-0452-2DOI Listing
September 2016
13 Reads

Excimer laser phototherapeutic keratectomy in conjunction with mitomycin C in corneal macular and granular dystrophies.

Arq Bras Oftalmol 2016 Apr;79(2):69-72

Department of Ophthalmology, School of Medicine, Gazi University, Besevler, Ankara, Turkey.

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). Read More

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http://dx.doi.org/10.5935/0004-2749.20160022DOI Listing
April 2016
7 Reads

[To Protect Corneal Transparency against Diseases].

Authors:
Tomohiko Usui

Nippon Ganka Gakkai Zasshi 2016 Mar;120(3):246-62; discussion 263

To protect corneal transparency, we tried to develop a new therapeutic strategy for corneal neovascularization, corneal scar, and TGFBI-related corneal dystrophy using nucleic acid drug. 1. The expression of angiopietin-like protein 2 (Angptl2) markedly increased in the neovascularized corneas compared to the normal cornea, and Angtpl2 was(a potent inducer of inflammatory corneal neovascularization. Read More

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March 2016
5 Reads