A review of keratoconus: diagnosis, pathophysiology, and genetics

VM Tur, C MacGregor, R Jayaswal, D O'Brart… - Survey of …, 2017 - Elsevier
We discuss new approaches to the early detection of keratoconus and recent investigations
regarding the nature of its pathophysiology. We review the current evidence for its complex …

The genetic and environmental factors for keratoconus

A Gordon-Shaag, M Millodot… - BioMed research …, 2015 - Wiley Online Library
Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone‐
shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It …

The use of X-ray scattering techniques to quantify the orientation and distribution of collagen in the corneal stroma

KM Meek, C Boote - Progress in retinal and eye research, 2009 - Elsevier
The bulk of the corneal stroma is comprised of a layered network of fibrillar collagen.
Determining the architecture of this unique structure may help us to better understand the …

VSX1: A gene for posterior polymorphous dystrophy and keratoconus

E Heon, A Greenberg, KK Kopp… - Human molecular …, 2002 - academic.oup.com
We identified mutations in the VSX1 homeobox gene for two distinct inherited corneal
dystrophies; posterior polymorphous dystrophy (PPD) and keratoconus. One of the mutation …

The genetics of keratoconus.

YS Rabinowitz - Ophthalmology Clinics of North America, 2003 - europepmc.org
The genetics of keratoconus. - Abstract - Europe PMC Sign in | Create an account https://orcid.org
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Genetics in Keratoconus: where are we?

Y Bykhovskaya, B Margines, YS Rabinowitz - Eye and Vision, 2016 - Springer
Keratoconus (KC) is a non-inflammatory thinning and protrusion of the cornea in which the
cornea assumes a conical shape. Complex etiology of this condition at present remains an …

A regulatory gene network that directs micromere specification in the sea urchin embryo

P Oliveri, DM Carrick, EH Davidson - Developmental biology, 2002 - Elsevier
Micromeres and their immediate descendants have three known developmental functions in
regularly developing sea urchins: immediately after their initial segregation, they are the …

Genetic aspects of keratoconus: a literature review exploring potential genetic contributions and possible genetic relationships with comorbidities

E Loukovitis, K Sfakianakis, P Syrmakesi… - Ophthalmology and …, 2018 - Springer
Introduction Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial
degenerative disorder that is accompanied by corneal ectasia which usually progresses …

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

EV Semina, I Brownell, HA Mintz-Hittner… - Human molecular …, 2001 - academic.oup.com
Dysgenesis of the anterior segment of the eye delineates a spectrum of human
developmental disorders that show wide phenotypic and genetic heterogeneity. It is also …

Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons

S Zhao, S Maxwell, A Jimenez‐Beristain… - European Journal of …, 2004 - Wiley Online Library
We have generated embryonic stem (ES) cells and transgenic mice with green fluorescent
protein (GFP) inserted into the Pitx3 locus via homologous recombination. In the central …