Results 11 to 20 of about 97,726 (210)

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,
Klintworth Gordon K
doaj   +3 more sources

The IC3D Classification of the Corneal Dystrophies [PDF]

Cornea, 2008
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes call Cause a single phenotype, whereas different defects in a
Kivela, T, Weiss, Jayne S., Lisch, Walter, Klintworth, Gordon K., Belin, MW, Busin, M, Lisch, W, Sutphin, John, Rapuano, Christopher J., Kim, Eung Kweon, Kinoshita, Shigeru, Aldave, Anthony J., Kivelä, Tero, Mà ̧ller, H. U., Seitz, Berthold, Aldave, AJ, Kinoshita, S, Bredrup, Cecilie, Belin, Michael W., Mannis, MJ, Moller, HU, Bredrup, C, Munier, FL, Busin, Massimo, Sutphin, J, Van Rij, Gabriel, Seitz, B, Munier, Francis L., Weiss, JS, Rapuano, CJ, Rij, G., Klintworth, GK, Kim, EK, Mannis, Mark J., Munier, F.L., Klintworth, G.K., Kim, E.K., Rapuano, C.J., Kinoshita, S., Kivelä, T., Aldave, A.J., Van Rij, G., Mannis, M.J., Belin, M.W., Seitz, B., Busin, M., Weiss, J.S., Lisch, W., Bredrup, C., Møller, H.U., Sutphin, J.   +50 more
core   +4 more sources

IC3D Classification of Corneal Dystrophies-Edition 3. [PDF]

Cornea
Purpose:The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis.
Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W.   +15 more
europepmc   +7 more sources

Comparison of Confocal Microscopy and Scheimpflug Camera Findings in Avellino Corneal Dystrophy

Türk Oftalmoloji Dergisi, 2012
In this case report, a literature-guided comparative analysis of confocal microscopy and Scheimpflug camera findings of an adult with Avellino corneal dystrophy was performed.
Murat Küçükevcilioğlu, Volkan Hürmeriç, Osman Melih Ceylan, Fazıl Cüneyt Erdurman   +3 more
doaj   +2 more sources

Clinical and genetic aspects of hereditary corneal dystrophies [PDF]

Офтальмохирургия, 2016
This review includes the clinical and genetic aspects of congenital and genetically determined dystrophies of the cornea. Development of new approaches based on the study of clinical signs of the disease and their correlation with the results of genetic ...
B. E. Malyugin, O. P. Antonova
doaj   +1 more source

Genetic testing for corneal dystrophies and other corneal Mendelian diseases

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for corneal dystrophies and other Mendelian corneal diseases (CDs).
Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Viola Francesco, Colombo Leonardo, Bertelli Matteo   +6 more
doaj   +2 more sources

In Vivo Confocal Microscopy Findings in Corneal Stromal Dystrophies

Diagnostics
Background/Objectives: In this study, we aim to evaluate in vivo confocal microscopy (IVCM) findings of corneal stromal dystrophies (CSDs) including granular, macular and lattice corneal dystrophy that can be used for differential diagnosis and ...
Süleyman Okudan, Emine Tınkır Kayıtmazbatır, Ayşe Bozkurt Oflaz, Banu Bozkurt   +3 more
doaj   +2 more sources

Update on the Corneal Dystrophies-Genetic Testing and Therapy [PDF]

, 2022
One major purpose of the IC3D Corneal Dystrophy Nomenclature Revision was to include genetic information with a goal of facilitating investigation into the pathogenesis, treatment, and perhaps even prevention of the corneal dystrophies, an ambitious goal.
Lisch, Walter, Jayne S. Weiss, Turunen, Joni A, Colin E. Willoughby, Walter Lisch, Víctor Abad–Morales, Weiss, Jayne S, Abad-Morales, Víctor, Joni A. Turunen, Willoughby, Colin E; id_orcid   +9 more
core   +1 more source

Laser refractive surgery in corneal dystrophies [PDF]

, 2021
Twenty-eight case reports and case series published between 2000 and 2019 concerning laser refractive surgery in patients with corneal dystrophies, resulting in 173 eyes from 94 patients, were included in this systematic review.
Rahul Rachwani-Anil, Carlos Rocha-de-Lossada, José-María Sánchez-González, Sánchez González, José María, Davide Borroni, Rocha de Lossada, Carlos, Colmenero Reina, Elvira, Borroni, Davide, Elvira Colmenero-Reina, Rachwani-Anil, Rahul   +9 more
core   +1 more source

Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report

BMC Ophthalmology, 2021
Background Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease
Anna Nowińska, Edyta Chlasta-Twardzik, Michał Dembski, Ewa Wróblewska-Czajka, Klaudia Ulfik-Dembska, Edward Wylęgała   +5 more
doaj   +1 more source