Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jcjo.2014.12.009 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.
Taiwan J Ophthalmol
August 2023
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.
Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes or . Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene . This report describes the case of a boy with -related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.
View Article and Find Full Text PDFCorneal crosslinking in a case with Axenfeld-Rieger syndrome and unilateral pellucid marginal degeneration.
Ther Adv Ophthalmol
January 2019
Ophthalmology Department, Ercis State Hospital, Van, Turkey.
A 31-year-old male patient presented with the complaint of progressive vision loss in his left eye. Slit-lamp examination showed posterior embryotoxon, iris hypoplasia, and iridocorneal adhesion in both eyes, corectopia in the right, and peripheral inferior thinning and ectasia in the left eye. Corneal topography showed slightly asymmetric bowtie pattern in the right eye and crab-claw pattern in the left eye.
View Article and Find Full Text PDFDegenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis.
J Dermatol Sci
December 2018
Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon. Electronic address:
Background: Cutaneous malformations are at times associated with some forms of congenital heart defects. Many a times subtle cutaneous phenotypes maybe overlooked as their significance on the lives of individuals is minimal. Lebanon represents an area of high consanguinity, where the rates can go beyond 70% in some districts.
View Article and Find Full Text PDFCurrent and prospective therapies for acute liver failure.
Dis Mon
December 2018
Department of Medicine, Division of Gastroenterology and Hepatology, University of Maryland School of Medicine, Baltimore, MD, United States. Electronic address:
Genetic linkage between altered tooth and eye development in lens-ablated Astyanax mexicanus.
Dev Biol
September 2018
Department of Biology, Mount Saint Vincent University, Halifax, Nova Scotia, Canada B3M 2J. Electronic address:
The phenotype of lens-ablated Mexican tetra (Astyanax mexicanus) compared to wild-type surface fish has been described and includes, among other effects, eye degeneration, changes in tooth number and cranial bone changes. Here, we investigate the spatiotemporal expression patterns of several key genes involved in the development of these structures. Specifically, we show that the expression of pitx2, bmp4 and shh is altered in the eye, oral jaw, nasal pit and forebrain in these lens-ablated fish.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!