Results 31 to 40 of about 2,934 (184)

IC3D classification of corneal dystrophies-edition 2

, 2015
Purpose: To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information.
Kenyon, K.R., Weiss, Jayne S., Lisch, Walter, Munier, F.L., Kim, E.K., Kenyon, Kenneth R., Labbã©, Antoine, Rapuano, C.J., Lisch, W., Sutphin, John, Kivelä, T., Kinoshita, S., Rapuano, Christopher J., Mà ̧ller, Hans Ulrik, Kim, Eung Kweon, Bredrup, C., Aldave, A.J., Mã¸ller, Hans Ulrik, Kinoshita, Shigeru, Aldave, Anthony J., Labbé, A., Seitz, Berthold, Bredrup, Cecilie, Nischal, K.K., Møller, H.U., Kivelã¤, Tero, Busin, Massimo, Nischal, Kanwal K., Seitz, B., Busin, M., Munier, Francis L., Sutphin, J., Weiss, J.S.   +32 more
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Microscopia confocal no auxílio diagnóstico de Distrofia Corneana de Schnyder

Revista Brasileira de Oftalmologia
Resumo Neste relato, descrevemos um caso de Distrofia corneana de Schnyder que apresentou o desfecho de seu diagnóstico baseado em achados característicos na microscopia confocal, ferramenta que se aponta em destaque no universo oftalmológico.
Débora Biazim, Diego Casagrande, Paula Kataguiri   +2 more
doaj   +1 more source

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

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

Corneal transplantation: Restoring sight to the blind

Acta Ophthalmologica, EarlyView.
Abstract Corneal blindness is one of the leading causes of vision loss worldwide. Transplantation of the cornea can restore vision and make blind patients see again. Corneal transplant surgery has undergone major evolution in recent decades with the advent of minimally invasive lamellar surgical approaches such as DMEK and DALK.
Claus Cursiefen
wiley   +1 more source

Genetic Analysis of Corneal Dystrophies [PDF]

, 2016
Corneal disease is a major cause of global blindness accounting for around 2% of severe visual impairment in the UK. Corneal dystrophies are a group of rare, bilateral conditions with a genetic basis.
Siddiqui, Salina
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Corneal distrophy Groenow-i [PDF]

, 2023
We are talking about corneal dystrophy if there is clouding of its media without them being inflamed beforehand. Corneal dystrophies are diseases that affect the cornea, they are genetic diseases and most of them are autosomal dominant, bilateral and ...
Gorgiev, Alen, Velickovska, Dragana, Gazepov, Strahil   +2 more
core  

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Molecular genetics and genotype-phenotype correlation of inherited corneal dystrophies [PDF]

, 2017
Corneal dystrophies are a group of inherited, primarily monogenic, disorders that compromise the transparency of the cornea and cause visual impairment. A large cohort, consisting of 191 corneal dystrophy probands, was recruited to the study with the aim
Evans, CJ
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