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Granular Corneal Dystrophy

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

Danyao Nie, Xinhua Liu, Yuan Wang, Wenling He, Ming Li, Yun Peng, Jing Zhang, Liangnan Sun, Zonghui Yan, Lin Ye,

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 ... Read more >>

In Vitro Cell. Dev. Biol. Anim. (In vitro cellular & developmental biology. Animal)
[2020, :]

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Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies.

Nadia Sukusu Nielsen, Ebbe Toftgaard Poulsen, Marie V Lukassen, Connie Chao Shern, Emilie Hage Mogensen, Christian E Weberskov, Larry DeDionisio, Leif Schauser, Tara C B Moore, Daniel E Otzen, Jesper Hjortdal, Jan J Enghild,

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) ... Read more >>

Prog Retin Eye Res (Progress in retinal and eye research)
[2020, :100843]

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

Shreesha Kumar Kodavoor, Bijita Deb, Dandapani Ramamurthy,

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 ... Read more >>

Indian J Ophthalmol (Indian journal of ophthalmology)
[2019, 67(11):1830-1833]

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Macular corneal dystrophy with isolated peripheral Descemet membrane deposits.

Wenlin Zhang, Austin Connor Kassels, Alice Barrington, Shaukat Khan, Shunji Tomatsu, Turad Alkadi, Anthony Aldave,

Purpose:Macular Corneal Dystrophy (MCD, MIM #217800) is a category 1 corneal stromal dystrophy as per the current IC3D classification. While characterized by macular stromal deposits, we report a case of MCD type II with isolated bilateral peripheral Decemet membrane opacities, describing the clinical features and results of screening the CHST6 ... Read more >>

Am J Ophthalmol Case Rep (American journal of ophthalmology case reports)
[2019, 16:100571]

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Approaches toward enhancing survival probability following deep anterior lamellar keratoplasty.

Sepehr Feizi, Amir A Azari,

The greatest advantage of deep anterior lamellar keratoplasty over full-thickness corneal transplantation is the elimination of graft failure caused by endothelial rejection. Despite this advantage, a deep anterior lamellar keratoplasty graft can fail because of several factors, such as complications related to the donor–recipient interface, graft epithelial abnormalities, graft vascularization, ... Read more >>

Ther Adv Ophthalmol (Therapeutic advances in ophthalmology)
[2020, 12:]

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Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair.

Kohdai Kitamoto, Yukako Taketani, Wataru Fujii, Aya Inamochi, Tetsuya Toyono, Takashi Miyai, Satoru Yamagami, Masahiko Kuroda, Tomohiko Usui, Yasuo Ouchi,

Mutations in transforming growth factor-beta-induced (TGFBI) gene cause clinically distinct types of corneal dystrophies. To delineate the mechanisms driving these dystrophies, we focused on the R124C mutation in TGFBI that causes lattice corneal dystrophy type1 (LCD1) and generated novel transgenic mice harbouring a single amino acid substitution of arginine 124 ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):2000]

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Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy.

Akshay Narayan, Mariya Moosajee,

Here, we report the diagnostic challenge of a female patient of Russian descent with autosomal recessive hypotrichosis with juvenile macular dystrophy (HJMD). She presented to dermatology age one and a half years with sparse hair growth on her scalp, her parents were reassured this would grow, but it never manifested. ... Read more >>

BMJ Case Rep (BMJ case reports)
[2019, 12(10):]

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Autophagy and Age-Related Eye Diseases.

Xue Yang, Xinan Pan, Xiaorui Zhao, Jin Luo, Mingpu Xu, Daoming Bai, Yan Hu, Xu Liu, Qiongfang Yu, Dian Gao,

Background:Autophagy is a catabolic process that depends on the lysosome. It is usually used to maintain cellular homeostasis, survival and development by degrading abnormal substances and dysfunctional organelles, especially when the cell is exposed to starvation or other stresses. Increasing studies have reported that autophagy is associated with various eye ... Read more >>

Biomed Res Int (BioMed Research International)
[2019, 2019:5763658]

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CA-125, CA-153, and CYFRA21-1 as clinical indicators in male lung cancer with ocular metastasis.

Biao Li, Qing Yuan, Yu-Ting Zou, Ting Su, Qi Lin, Yu-Qing Zhang, Wen-Qing Shi, Rong-Bin Liang, Qian-Min Ge, Qiu-Yu Li, Yi Shao,

Despite recent improvements in diagnosis and therapy, lung cancer remains the most common malignant tumor in males, with high morbidity and mortality. As the annual incidence continues to increase worldwide, the prognosis for male patients with lung cancer remains unsatisfactory. Interestingly, smoking is associated with lung cancer and ocular lesions ... Read more >>

J Cancer (Journal of Cancer)
[2020, 11(10):2730-2736]

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Systematic review of differential methylation in rare ophthalmic diseases.

Katie Kerr, Helen McAneney, Laura Smyth, Cheryl Flanagan, Julie Silvestri, Micheal Andrew Nesbitt, Christopher Wooster, Amy Jayne McKnight,

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 ... Read more >>

BMJ Open Ophthalmol (BMJ open ophthalmology)
[2019, 4(1):e000342]

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[Corneal dystrophies in optical coherence tomography].

C Elhardt, S G Priglinger, Y Karakolova, W J Mayer, C Wertheimer,

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 ... Read more >>

Ophthalmologe (Der Ophthalmologe)
[2019, 116(9):857-864]

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Clinical Role of Epigenetics and Network Analysis in Eye Diseases: A Translational Science Review.

Michele Lanza, Giuditta Benincasa, Dario Costa, Claudio Napoli,

Network medicine is a molecular-bioinformatic approach analyzing gene-gene interactions that can perturb the human interactome. This review focuses on epigenetic changes involved in several ocular diseases, such as DNA methylation, histone and nonhistone post-translational modifications, and noncoding RNA regulators. Although changes in aberrant DNA methylation play a major role in ... Read more >>

J Ophthalmol (Journal of ophthalmology)
[2019, 2019:2424956]

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Distinct ocular surface soluble factor profile in human corneal dystrophies.

Rohit Shetty, Jagadeesh R Naidu, Archana Padmanabhan Nair, Tanuja Arun Vaidya, Sharon D'Souza, Himanshu Matalia, Vrushali Deshpande, Swaminathan Sethu, Arkasubhra Ghosh, Koushik Chakrabarty,

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 ... Read more >>

Ocul Surf (The ocular surface)
[2020, 18(2):237-248]

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Simultaneous Implantation of Refractive Lenticule and Intracorneal Ring Segment in the Management of Pellucid Marginal Degeneration.

Yury Kalinnikov, Galina Leontyeva, Alexandra Zinovyeva, Denis Nevrov,

PURPOSE:To describe a patient with pellucid macular degeneration suffering from visual deterioration due to high irregular astigmatism and intolerant to contact lenses, who underwent a new surgical procedure that combined intrastromal lamellar keratoplasty and a 359° intracorneal ring segment implantation, enabling both ametropia and corneal thinning correction. METHODS:Case report. RESULTS:Refractive ... Read more >>

J Refract Surg (Journal of refractive surgery (Thorofare, N.J. : 1995))
[2019, 35(9):606-609]

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Corneal Cross-Linking: An Effective Treatment Option for Pellucid Marginal Degeneration.

J J Yong, K M Hatch,

Purpose: This is the first review article examining literature specific to the use of corneal cross-linking (CXL) to treat pellucid marginal degeneration (PMD). Results: CXL appears to be an effective treatment that may halt the progression of PMD to stabilize vision. This could postpone or eliminate the need for corneal ... Read more >>

Semin Ophthalmol (Seminars in ophthalmology)
[2019, 34(7-8):512-517]

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Intrastromal cyst in Terrien's marginal degeneration.

Deepali Singhal, Prakhyat Roop, Prafulla Kumar Maharana,

Indian J Ophthalmol (Indian journal of ophthalmology)
[2019, 67(9):1475]

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

Ryo Yoneyama, Kazutaka Kamiya, Kei Iijima, Masahide Takahashi, Nobuyuki Shoji,

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 ... Read more >>

Jpn. J. Ophthalmol. (Japanese journal of ophthalmology)
[2020, 64(1):62-67]

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Corneal biomechanics and intraocular pressure assessment after penetrating keratoplasty for non keratoconic patients, long term results.

Mohamed Samy Abd Elaziz, Hoda Mohamed Elsobky, Adel Galal Zaky, Eslam Ahmed Maher Hassan, Mahmoud Tawfik KhalafAllah,

BACKGROUND:To evaluate corneal biomechanical properties by the Ocular Response Analyzer (ORA) in non keratoconic patients underwent penetrating keratoplasty (PK). METHODS:Corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann- correlated intraocular pressure (IOPg), cornea-compensated IOP (IOPcc) using the ORA, and central graft thickness (CGT) were measured in 30 eyes at least two ... Read more >>

BMC Ophthalmol (BMC ophthalmology)
[2019, 19(1):172]

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Long-term clinical outcomes of keratoplasty using gamma-irradiated corneal lenticules.

Priya M Mathews, Rajesh Fogla, Erik Samayoa, Shanna VanCourt, Esen K Akpek,

Objective:To report long-term clinical outcomes of gamma-irradiated corneal lenticules in partial and full-thickness keratoplasty. Methods and Analysis:This multicentre, retrospective case series includes 23 patients who underwent surgery at three centres (India, Guatemala, and USA) between May 2009 and March 2018. The main outcome measures were epithelialization and retention for therapeutic ... Read more >>

BMJ Open Ophthalmol (BMJ open ophthalmology)
[2019, 4(1):e000396]

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[Neurotrophic keratopathy : Principles, diagnostics and treatment].

Stefan Mergler, Tina Dietrich-Ntoukas, Uwe Pleyer,

Corneal nerves are responsible for the reception of pain, temperature, and touch and are an important component of homeostasis of the ocular surface. When the corneal innervation is reduced, degenerative changes can be manifested as neurotrophic keratopathy (NK). In a stage-dependent course, corneal epithelial alterations and ulcers may occur, even leading ... Read more >>

Ophthalmologe (Der Ophthalmologe)
[2019, 116(8):797-810]

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Transepithelial Phototherapeutic Keratectomy Followed by Corneal Collagen Crosslinking for the Treatment of Pellucid Marginal Degeneration: Long-term Results.

Nurullah Cagil, Ozge Sarac, Nilufer Yesilirmak, Mehtap Caglayan, Betul S Uysal, Burak Tanriverdi,

PURPOSE:To evaluate visual, refractive, topographic, and aberrometric outcomes of transepithelial phototherapeutic keratectomy (PTK) + corneal collagen crosslinking in the treatment of pellucid marginal degeneration. METHODS:This retrospective study includes 20 eyes of 15 patients with pellucid marginal degeneration treated with transepithelial PTK + accelerated corneal collagen crosslinking. Visual acuity, refraction, topographic ... Read more >>

Cornea (Cornea)
[2019, 38(8):980-985]

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Scleral lens for severe dry eye status post lacrimal gland resection for adenoid cystic carcinoma.

Daniel J Oh, Raman Michael, Pete Setabutr, Ellen Shorter,

Purpose:Scleral contact lenses (SCLs) are devices that allow a fluid reservoir between the contact lens and the cornea, providing both improved lubrication and refraction. Consequently, SCLs have been used for significant refractive error in addition to a wide range of ocular surface diseases. We present the first case of a ... Read more >>

Am J Ophthalmol Case Rep (American journal of ophthalmology case reports)
[2020, 17:100601]

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Corneal Salzmann Nodular Degeneration.

Lokmane Taihi, Nathalie Cassoux, Augustin Lecler,

JAMA Ophthalmol (JAMA ophthalmology)
[2019, 137(7):e185473]

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Effect of osmolytes on in-vitro aggregation properties of peptides derived from TGFBIp.

Anandalakshmi Venkatraman, Elavazhagan Murugan, Shu Jun Lin, Gary Swee Lim Peh, Lakshminarayanan Rajamani, Jodhbir S Mehta,

Protein aggregation has been one of the leading triggers of various disease conditions, such as Alzheimer's, Parkinson's and other amyloidosis. TGFBI-associated corneal dystrophies are protein aggregation disorders in which the mutant TGFBIp aggregates and accumulates in the cornea, leading to a reduction in visual acuity and blindness in severe cases. ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4011]

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

Osamu Hieda, Satoshi Kawasaki, Kiyoshi Yamamura, Mina Nakatsukasa, Shigeru Kinoshita, Chie Sotozono,

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 ± 15.2 years; range: 6-101 years) who underwent PTK as the initial surgical intervention for an anterior corneal pathology. In case of each patient, ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(27):e16216]

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