Results 71 to 80 of about 200,407 (146)

Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies

, 2017
Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to
ÖNER, Ayşe, Ayşe Öner
core   +1 more source

Franceschetti Hereditary Recurrent Corneal Erosion

, 2012
center dot PURPOSE: To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy ...
Weiss, Jayne S., Lisch, Walter, Auw-Hädrich, Claudia, Lange, Clemens, Pleyer, Uwe, Auw-Haedrich, Claudia, Reinhard, Thomas, Tiab, Leila, Gundlach, Enken, Schorderet, Daniel F., Lisch, Christina, Munier, Francis L., Saikia, Parykshit, Bron, Anthony J., Munier, F.L., Pleyer, U., Auw-Haedrich, C., Reinhard, T., Lisch, C., Lisch, W., Saikia, P., Gundlach, E., Bron, A.J., Tiab, L., Schorderet, D.F., Lange, C., Weiss, J.S.   +26 more
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A molecular perspective on corneal dystrophies

, 2003
Corneal dystrophies refer to a group of corneal diseases and that are genetically determined. These have been traditionally classified with respect to the layer of cornea involved. We now know that this does not reflect the underlying pathobiology.
Heon, E., Vincent, A. L., Rootman, D., Munier, F. L.   +3 more
core  

Frequency, distribution, and outcome of keratoplasty for corneal dystrophies at a tertiary eye care center in South India

, 2004
Purpose: To report the frequency, outcome, and atypical histology in corneal dystrophies. Methods: Corneal buttons of patients diagnosed with corneal dystrophy as noted in the records of the ophthalmic pathology register over a period of 6 years were ...
Bansal, Aashish, Vemuganti, Geeta K., Rao, Gullapalli N., Pandrowala, Hijab   +3 more
core   +1 more source

Genome-Wide Association Study of Corneal Dystrophy Uncovers Novel Risk Loci and Enables Improved Polygenic Prediction of Fuchs Endothelial Corneal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Insawang B, Mackey DA, Hewitt AW, Craig JE, Mills R, Gharahkhani P, MacGregor S.   +6 more
europepmc   +1 more source

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients

, 2011
PURPOSE: To analyze genotype-phenotype correlation in patients originating from Polish population with the transforming growth factor beta induced (TGFBI) corneal dystrophies. METHODS: Sixty affected and 31 unaffected individuals from 15 unrelated Polish
Nowińska AK, Wylegala E, Dobrowolski D, Janiszewska DA, PUZZOLO, Domenico, Roszkowska AM, ARAGONA, Pasquale   +6 more
core  

Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report. [PDF]

Cureus
Bousellam B, Eddaoui HA, Regragui A, Benchekroun N, Belmekki M.   +4 more
europepmc   +1 more source

From Morphology to Biomarkers: Optical Coherence Tomography in Corneal Disease. [PDF]

Diseases
Fu L, Luo YH, Kopsachilis N, Capobianco M, Gattazzo I, Cappellani F, D'Esposito F, Gagliano C, Zeppieri M.   +8 more
europepmc   +1 more source

Utility and applications of high-resolution anterior segment optical coherence tomography in unraveling the diagnosis of isolated bilateral corneal haze in children. [PDF]

Indian J Ophthalmol
Chaurasia S, Ramappa M.
europepmc   +1 more source

Cryo-EM structure of TGFBIp fibrils driven by a corneal dystrophy-linked mutation enables design of peptide inhibitors of aggregation. [PDF]

Proc Natl Acad Sci U S A
Jiang YX, Salwinski L, Sawaya MR, Ge P, Lutter L, Cheng X, Hu CJ, Hernandez H, Boyer DR, Wang C, Melo FA, Cascio D, Eisenberg DS.   +12 more
europepmc   +1 more source