Results 41 to 50 of about 97,726 (210)

Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population

Scientific Reports
Epithelial-stromal TGFBI dystrophies are a group of inherited corneal disorders associated with variants in the TGFBI. This study investigated the allele frequency of major TGFBI variants and estimated the prevalence of epithelial-stromal TGFBI ...
Eun Hye Cho, Myoungkeun Lee, Chang-Seok Ki, Chang Ahn Seol, Mi-Ae Jang   +4 more
doaj   +1 more source

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

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2

Scientific Reports, 2021
We investigated the clinical and genetic features of patients with severe phenotype of granular corneal dystrophy type 2 (GCD2) associated with compound heterozygosity in the transforming growth factor-β-induced (TGFBI) gene.
Ikhyun Jun, Yong Woo Ji, Seung-il Choi, Bo Ram Lee, Ji Sang Min, Eung Kweon Kim   +5 more
doaj   +1 more source

Current issues of differential diagnosis and treatment of congenital corneal opacities in children

Офтальмохирургия, 2021
Purpose. To analyze the literature on the topic of congenital corneal opacities, their diagnosis, differential diagnosis, as well as the choice of optimal treatment tactics.Congenital corneal opacities (CCO), when effective treatment is delayed, usually ...
A. V. Pleskova, E. V. Mazanova, A. A. Sorokin   +2 more
doaj   +1 more source

Outcomes of therapeutic penetrating keratoplasty and deep anterior lamellar keratoplasty in acanthamoeba keratitis: A systematic review and meta‐analysis

Acta Ophthalmologica, EarlyView.
Abstract While acanthamoeba keratitis (AK) is a sight‐threatening corneal infection, a thorough comparison of the outcomes of therapeutic penetrating keratoplasty (PK) and therapeutic deep anterior lamellar keratoplasty (DALK) is lacking. We aimed to compare clinical outcomes of PK and DALK in AK.
Gábor Tóth, Junbo Wang, Shanhe Liu, Shuailin Li, Szilárd Váncsa, Mátyás Paczkó, Tamás Kói, Péter Hegyi, Nóra Szentmáry   +8 more
wiley   +1 more source

Cytokeratin expression in corneal dystrophies [PDF]

, 2011
PURPOSE: To identify an immunohistochemical pattern of epithelial markers in granular, lattice and Avellino corneal dystrophies. METHODS: Twenty-two corneal buttons, diagnosed as lattice (17), Avellino (4) and granular (1) underwent immunohistochemical ...
Coutinho, Anamaria Baptista, Corrêa, Zélia Maria S, Burnier Jr, Miguel N, Freitas, Denise de, Odashiro, Alexandre Nakao, Souza Filho, João Pessoa de   +5 more
core   +1 more source

Bowman layer onlay transplantation in the management of epithelial-stromal dystrophies of Reis — Bücklers and Thiel — Behnke

Российский офтальмологический журнал
Epithelial-stromal dystrophies (ESD) are bilateral, genetically determined, progressive corneal diseases, in all cases accompanied by destruction of the Bowman’s layer.
O. G. Oganesyan, P. M. Ashikova, A. V. Ivanova, K. B. Letnikova, P. V. Makarov   +4 more
doaj   +1 more source

Trends in indications and techniques of corneal transplantation in Iran from 2006 to 2013; an 8-year review

Journal of Ophthalmic & Vision Research, 2016
Purpose: To report changing trends in indications and techniques of corneal transplantation in Iran. Methods: We reviewed eye bank records of 47,129 patients who had undergone corneal transplantation between 2006 and 2013 at different eye centers ...
Mozhgan Rezaei Kanavi, Mohammad Ali Javadi, Tahmineh Motevasseli, Tahereh Chamani, Mahnoush Rezaei Kanavi, Bahareh Kheiri, Sare Safi   +6 more
doaj   +1 more source

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Recessive dystrophic epidermolysis bullosa inversa (RDEB‐I) is a rare subtype of dystrophic epidermolysis bullosa (EB) characterized by intertriginous cutaneous involvement and frequent mucosal disease. Although mucosal involvement is recognized in RDEB‐I, its cumulative clinical burden remains poorly defined.
Valerie R. Stichert, Nichole Halliburton, Sarah Crawford, Jennifer Phillips, Kalyani S. Marathe, Beth A. Moeves   +5 more
wiley   +1 more source

Corneal dystrophies: A decade of experience in a reference center in Bogotá, Colombia

The Pan-American Journal of Ophthalmology, 2021
Purpose: To describe sociodemographic findings, frequency, and clinical characteristics of patients with corneal dystrophy who consulted an ophthalmologic national reference center in Bogotá-Colombia in 10 years.
Matilde Mora, Maria Elisa Mejia, Maria Alejandra Martinez-Ceballos, Daniela Roca   +3 more
doaj   +1 more source