Results 21 to 30 of about 2,934 (184)

Molecular Mechanisms of Fuchs and Congenital Hereditary Endothelial Corneal Dystrophies

, 2020
The cornea, the eye's outermost layer, protects the eye from the environment. The cornea's innermost layer is an endothelium separating the stromal layer from the aqueous humor. A central role of the endothelium is to maintain stromal hydration state. Defects in maintaining this hydration can impair corneal clarity and thus visual acuity.
Joseph R. Casey, Darpan Malhotra
core   +3 more sources

Corneal dystrophies and hereditary anterior eye segment disorders

Acta Ophthalmologica, 2011
AbstractAbstract not ...
A NOWINSKA
core   +2 more sources

Update on the genetics of corneal endothelial dystrophies

Indian Journal of Ophthalmology, 2022
Corneal endothelial dystrophies are a heterogeneous group of diseases with different modes of inheritance and genetic basis for each dystrophy. The genes associated with these diseases encode transcription factors, structural components of the stroma and
Chitra Kannabiran, Sunita Chaurasia, Muralidhar Ramappa, Venkateswara Vinod Mootha   +3 more
doaj   +1 more source

Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies [PDF]

, 2020
SLC4A11, a member of the SLC4 family of bicarbonate transporters, is a widely expressed integral membrane protein, abundant in kidney and cornea. Mutations of SLC4A11 cause some cases of the blinding corneal dystrophies, congenital hereditary endothelial
Morgan, Patricio Eduardo, Casey, Joseph R., Schneider, Hans Peter, Deitmer, Joachim W., Loganathan, Sampath K.   +4 more
core   +3 more sources

Updates on congenital hereditary endothelial dystrophy

Taiwan Journal of Ophthalmology, 2023
Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder causing progressive cornea clouding and significant visual impairment.
Neet Mehta, Anshuman Verma, Divya Sree Achanta, Chitra Kannabiran, Sanhita Roy, Dilip Kumar Mishra, Sunita Chaurasia, Deepak Paul Edward, Muralidhar Ramappa   +8 more
doaj   +1 more source

Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies [PDF]

, 2020
PurposeTo elucidate the molecular events in solute carrier family 4 member 11 (SLC4A11)-deficient corneal endothelium that lead to the endothelial dysfunction that characterizes the dystrophies associated with SLC4A11 mutations, congenital hereditary ...
Chung, Doug D, Sampath, Alapakkam P, Aldave, Anthony J, Azimov, Rustam, Kurtz, Ira, Frausto, Ricardo, Griffis, Christopher G, Kao, Liyo, Chen, Angela, Zhang, Wenlin   +9 more
core   +1 more source

Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 [PDF]

, 2015
Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 20 ...
Levis, HJ, Jirsova, K, Evans, Cerys J., Plagnol, Vincent, Sasai, N, Daniels, Julie T, Thaung, Caroline MH, Pontikos, Nikolas, Levis, Hannah J, Idigo, N, Kozmík, Z, Dudakova, L, Davidson, Alice E., Idigo, Nwamaka, Bellingham, James, Cheetham, ME, Maher, GJ, Hartmannová, H, Veli, N, Hodaňová, K, Liskova, Petra, Nosková, Lenka, Veli, Neyme, Bellingham, J, Maher, Geoffrey J, Tuft, Stephen J, Plagnol, V, Daniels, JT, Hartmannová, Hana, Sasai, Noriaki, Maher, Geoffrey, Dudakova, Lubica, Hardcastle, Alison J., Hodaňová, Katerina, Hardcastle, Alison J, Thaung, CM, Tuft, Stephen J., Kmoch, S, Davidson, Alice E, Filipec, M, Evans, CJ, Jirsova, Katerina, Nosková, L, Stránecký, Viktor, Thaung, Carol MH, Kmoch, Stanislav, Levis, Hannah J., Hardcastle, AJ, Pontikos, N, Cheetham, Michael E., Kozmík, Zbynek, Tuft, SJ, Ebenezer, ND, Liskova, P, Ebenezer, Neil D, Cheetham, Michael E, Davidson, AE, Stránecký, V, Daniels, Julie T., Thaung, Caroline M.H., Evans, Cerys J, Filipec, Martin, Maher, Geoffrey J., Ebenezer, Neil D.   +63 more
core   +3 more sources

Genetics and mechanisms of hereditary corneal dystrophies

, 2010
John D Gottsch
core   +2 more sources

Surpresa refrativa pós-facoemulsificação em distrofia corneana posterior amorfa Post-phacoemulsification refractive surprise in a posterior amorphous corneal dystrophy patient

Revista Brasileira de Oftalmologia, 2010
Relato de um caso de surpresa refracional pós-operatória não pretendida em paciente portador de distrofia corneana posterior amorfa submetida à facoemulsificação.
Giuliano de Oliveira Freitas, Mário José Carvalho   +1 more
doaj   +1 more source

Distrofia corneana policromática posterior Polychromatic posterior corneal dystrophy

Revista Brasileira de Oftalmologia, 2007
Os autores descrevem quatro raros casos de distrofia corneana policromática posterior, ainda não descrito na literatura nacional. Observam-se opacidades puntiformes, policromáticas, de tamanho uniforme, localização estromal profunda, distribuídas de ...
Patrick Frensel de Moraes Tzelikis, Ulisses Roberto dos Santos, Marco Antônio Guarino Tanure, Fernando Cançado Trindade   +3 more
doaj   +1 more source