Corneal dystrophies

GK Klintworth - Orphanet journal of rare diseases, 2009 - Springer
The term corneal dystrophy embraces a heterogenous group of bilateral genetically
determined non-inflammatory corneal diseases that are restricted to the cornea. The …

The IC3D classification of the corneal dystrophies

JS Weiss, HU Møller, W Lisch, S Kinoshita, AJ Aldave… - Cornea, 2008 - journals.lww.com
Background: The recent availability of genetic analyses has demonstrated the shortcomings
of the current phenotypic method of corneal dystrophy classification. Abnormalities in …

Characteristics of the human ocular surface epithelium

S Kinoshita, W Adachi, C Sotozono, K Nishida… - Progress in retinal and …, 2001 - Elsevier
An appreciation of the biological characteristics of the human ocular surface epithelium
affords us a great insight into the physiology of the human ocular surface in health and …

BIGH3 mutation spectrum in corneal dystrophies

FL Munier, BE Frueh, P Othenin-Girard… - … & visual science, 2002 - iovs.arvojournals.org
purpose. To investigate the molecular pathology underlying BIGH3-related corneal
dystrophies (CDs) and to further delineate genotype-phenotype specificity. methods. Sixty …

Pathogenesis and treatments of TGFBI corneal dystrophies

KE Han, S Choi, YS Maeng, RD Stulting, YW Ji… - Progress in retinal and …, 2016 - Elsevier
Transforming growth factor beta-induced (TGFBI) corneal dystrophies are a group of
inherited progressive corneal diseases. Accumulation of transforming growth factor beta …

TGFBI gene mutations in corneal dystrophies

C Kannabiran, GK Klintworth - Human mutation, 2006 - Wiley Online Library
The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are
autosomal dominant disorders of the corneal stroma. They are bilateral, progressive …

[PDF][PDF] The molecular genetics of the corneal dystrophies--current status

GK Klintworth - Front Biosci, 2003 - article.imrpress.com
[Frontiers in Bioscience 8, d687-713, May 1, 2003] 687 THE MOLECULAR GENETICS OF THE
CORNEAL DYSTROPHIES – CURRENT STATUS Gord Page 1 [Frontiers in Bioscience 8 …

Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies

NS Nielsen, ET Poulsen, MV Lukassen… - Progress in Retinal and …, 2020 - Elsevier
Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the
second most abundant protein in the corneal stroma. In this review, we summarize the …

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes

NA Afshari, JE Mullally, MA Afshari… - Archives of …, 2001 - jamanetwork.com
Objectives To search for novel mutations that cause corneal stromal dystrophies and to
confirm or revise the clinical diagnosis of patients with these mutations. Patients Through …

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

V Kheir, V Cortés‐González, JC Zenteno… - Human …, 2019 - Wiley Online Library
Human transforming growth factor β‐induced (TGFBI), is a gene responsible for various
corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell …