Results 81 to 90 of about 97,726 (210)

BIGH(3) gene analysis in the differential diagnosis of corneal dystrophies

, 2001
Purpose. To identify the mutation in the keratoepithelin gene for proper diagnosis of granular corneal dystrophies. Methods. Four generations of a single family with corneal dystrophy were analyzed. Fourteen family members were examined and 11 were found
Akarsu, AYŞE NURTEN, Duman, S, Kocak-Midillioglu, I, Kocak-Altintas, AG   +3 more
core   +1 more source

Surgical do's and don'ts of corneal dystrophies

, 2003
PURPOSE OF REVIEW: Characteristics of corneal dystrophies have been described with regards to such as location in the cornea, morphology, material composition, and recurrence after penetrating keratoplasty. The main goal of this review is to describe the
김응권
core  

Mutation Hot Spots in 5q31-Linked Corneal Dystrophies

, 1998
SummaryMutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers, lattice type I, and Avellino corneal dystrophies. All four diseases are characterized by
Braunstein, R.E., Munier, F.L., Culbertson, W.W., Korvatska, E, Djemaï, A., Zografos, L, Forster, R.K., Uffer, S, Boman, H, Ballestrazzi, E., Frueh, B., Uffer, S., Boman, H., Djemaï, A, Ballestrazzi, E, Zografos, L., Frueh, B, Schorderet, D.F., Chiou, A.G., Korvatska, E., Wang, M.X., Forster, R.K, Chiou, A.G.-Y, Culbertson, W.W, Munier, F.L, Braunstein, R.E, Schorderet, D.F, Wang, M.X, Zografos L, Korvatska E, Boman H, Wang MX, Frueh B, Ballestrazzi E, Braunstein RE, Chiou AG, Munier FL, Forster RK, Djemaï A, Culbertson WW, Uffer S, Schorderet DF   +41 more
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Advances and challenges of CRISPR/Cas gene editing for corneal diseases

Advances in Ophthalmology Practice and Research
Background: Corneal diseases are a major cause of global visual impairment, and current treatments remain inadequate for severe or refractory cases. The CRISPR/Cas system offers robust and precise gene-editing capabilities, yet its therapeutic potential ...
Yuqi Han, Ruoqi Chen, Xingchao Shentu
doaj   +1 more source

Advanced bioengineering strategies broaden the therapeutic landscape for corneal failure

Frontiers in Bioengineering and Biotechnology
The cornea acts as the eye foremost protective layer and is essential for its focusing power. Corneal blindness may arise from physical trauma or conditions like dystrophies, keratitis, keratoconus, or ulceration.
Reem Al Monla, Vincent Daien, Vincent Daien, Frederic Michon, Frederic Michon   +4 more
doaj   +1 more source

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature. [PDF]

Int J Mol Sci, 2023
Zhu D, Wang J, Wang Y, Jiang Y, Li S, Xiao X, Wang P, Zhang Q.   +7 more
europepmc   +1 more source

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

, 1997
Granular dystrophy Groenouw type I (CDGG1), Reis-Bucklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant corneal dystrophies.
Francis L. Munier, Graziano Pescia, Assia Djemaï, Elena Korvatska, Leonidas Zografos, Daniel F. Schorderet, Denis Le Paslier, Le Paslier D, Zografos L, Korvatska E, Pescia, G., Le Paslier, D., Munier FL, Korvatska, E., Djemai, A., Djemaï A, Pescia G, Munier, F. L., Zografos, L., Schorderet, D. F., Schorderet DF   +20 more
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Corneal dystrophies: pathophysiological, genetic, clinical, and therapeutic considerations. [PDF]

Rom J Ophthalmol, 2021
Constantin C.
europepmc   +1 more source

The latest IC3D classification of corneal dystrophies—Overview and changes of the 3rd edition [PDF]

The International Committee on Classification of Corneal Dystrophies (IC3D) was founded in 2005 to address difficulties arising from the outdated nomenclature for corneal dystrophies (CD) and to correct misconceptions in the literature.
Weiss, Jayne S., Lisch, Walter, Berger, Tim, Seitz, Berthold   +3 more
core   +1 more source

The First Experience of Hereditary Epithelial-stromal Corneal Dystrophies Combined Treatment

Oftalʹmologiâ
Purpose: to evaluate the results of combined treatment of hereditary epithelial-stromal corneal dystrophies. Patients and methods. The study included 5 patients with hereditary epithelial-stromal corneal dystrophies (HESCD), 8 of whom underwent ...
I. V. Vasilieva, A. Yu. Slonimsky, A. V. Vasiliev   +2 more
doaj   +1 more source