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Corneal dystrophies [PDF]

Nature Reviews Disease Primers, 2020
Corneal dystrophies are broadly defined as inherited disorders that affect any layer of the cornea and are usually progressive, bilateral conditions that do not have systemic effects. The 2015 International Classification of Corneal Dystrophies classifies corneal dystrophies into four classes: epithelial and subepithelial dystrophies, epithelial ...
Yu Qiang Soh, Viridiana Kocaba, Jayne S Weiss   +2 more
exaly   +8 more sources

Corneal dystrophies [PDF]

Orphanet Journal of Rare Diseases, 2009
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into three groups based on the sole or predominant ...
Klintworth Gordon K
openaire   +4 more sources

The IC3D Classification of the Corneal Dystrophies [PDF]

Cornea, 2008
The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes.
Weiss, JS, Moller, HU, Lisch, W, Kinoshita, S, Aldave, AJ, Belin, MW, Kivela, T, Busin, M, Munier, FL, Seitz, B, Sutphin, J, Bredrup, C, Mannis, MJ, Rapuano, CJ, Rij, , Kim, EK, Klintworth, GK   +16 more
openaire   +4 more sources

Fuchs’ corneal dystrophy [PDF]

Expert Review of Ophthalmology, 2010
Fuchs' corneal dystrophy (FCD) is a progressive, hereditary disease of the cornea first described a century ago by the Austrian ophthalmologist Ernst Fuchs. Patients often present in the fifth to sixth decade of life with blurry morning vision that increases in duration as the disease progresses.
Allen O, Eghrari, John D, Gottsch
openaire   +2 more sources

Corneal dystrophies in Japan [PDF]

Journal of Human Genetics, 2001
Recent advances in molecular genetics have increased our understanding of the role of genes. Four autosomal dominant corneal dystrophies (CDs); granular CD (GCD), Avellino CD (ACD), lattice CD (LCD), and Reis-Bücklers CD (RBCD) were mapped to the long arm of chromosome 5 (5q31).
K, Fujiki, K, Nakayasu, A, Kanai
openaire   +2 more sources

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

ApoE‐ and Cfh‐deficient mice exhibit structural and molecular features of human early–intermediate retinal degeneration

Animal Models and Experimental Medicine, EarlyView.
Age‐related macular degeneration (AMD) involves lipid dysregulation and complement overactivation. Here, we characterize a double‐knockout ApoE−/−/Cfh−/− mouse as a model of early–intermediate retinal degeneration. These mice exhibit retinal pigment epithelium thinning, Bruch's membrane thickening, lipid accumulation, enhanced C5b‐9 deposition ...
Sergio Recalde, Maite Moreno Orduña, Jaione Bezunartea, Idoia Belza, Ainara Chas, Laura Fernández‐Sánchez, Nicolás Cuenca Navarro, Alfredo García‐Layana, Patricia Fernández‐Robredo, María Hernández   +9 more
wiley   +1 more source

Astigmatic changes after Descemet membrane endothelial keratoplasty (DMEK) in decompensated penetrating keratoplasty grafts

Acta Ophthalmologica, EarlyView.
Abstract Purpose To evaluate the surgery‐induced changes of astigmatism after Descemet membrane endothelial keratoplasty (DMEK) in eyes with failed previous penetrating keratoplasty (PK). Design Retrospective, interventional cohort study based on prospective DMEK database.
Florian Thomas Steinberg, Jithmi Weliwitage, Marie von Berg, Silvia Schrittenlocher, Simona Schlereth, Claus Cursiefen, Björn Bachmann   +6 more
wiley   +1 more source

Revised Swedish visual field standards for a driver's licence: Threshold perimetry as a predictor of eligibility according to the current Swedish and current Norwegian suprathreshold standards

Acta Ophthalmologica, EarlyView.
Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source