Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study

2019 ◽  
Vol 22 (3) ◽  
pp. 294-304
Author(s):  
Claudia Busse ◽  
Christiane Kafarnik ◽  
Rose Linn‐Pearl ◽  
Christelle Volmer ◽  
Kaspar Matiasek ◽  
...  
Keyword(s):  
Multicenter Study ◽  
Corneal Dystrophy ◽  
Labrador Retrievers ◽  
Macular Corneal Dystrophy

A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers

2015 ◽  
Vol 19 (6) ◽  
pp. 488-492 ◽  
Author(s):  
Roser Tetas Pont ◽  
Louise Downs ◽  
Louise Pettitt ◽  
Claudia Busse ◽  
Cathryn S. Mellersh
Keyword(s):  
Gene Mutation ◽  
Corneal Dystrophy ◽  
Labrador Retrievers ◽  
Macular Corneal Dystrophy

scholarly journals Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy.

1990 ◽  
Vol 265 (26) ◽  
pp. 15947-15955 ◽  
Author(s):  
R.J. Midura ◽  
V.C. Hascall ◽  
D.K. MacCallum ◽  
R.F. Meyer ◽  
E.J. Thonar ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Macular Corneal Dystrophy

scholarly journals Roles of matrix metalloproteinases in cornea: a special focus on macular corneal dystrophy

2021 ◽  
pp. 100095
Author(s):  
G. Kaya Saniye ◽  
Inanc-Surer Seniz ◽  
Cakan-Akdogan Gulcin ◽  
Oktay Gulgun ◽  
A. Utine Canan ◽  
...  
Keyword(s):  
Matrix Metalloproteinases ◽  
Corneal Dystrophy ◽  
Special Focus ◽  
Macular Corneal Dystrophy

scholarly journals Concurrent macular corneal dystrophy and keratoconus

2012 ◽  
Vol 19 (2) ◽  
pp. 251 ◽  
Author(s):  
Mehdi Aslani ◽  
Hossein Mohammad-Rabei ◽  
Ahmad Shojaei
Keyword(s):  
Corneal Dystrophy ◽  
Macular Corneal Dystrophy

scholarly journals A Multicenter Study to Map Genes for Fuchs Endothelial Corneal Dystrophy: Baseline Characteristics and Heritability

Cornea ◽  
2012 ◽  
Vol 31 (1) ◽  
pp. 26-35 ◽  
Author(s):  
Megan D Louttit ◽  
Laura J Kopplin ◽  
Robert P Igo ◽  
Jeremy R Fondran ◽  
Angela Tagliaferri ◽  
...  
Keyword(s):  
Multicenter Study ◽  
Corneal Dystrophy ◽  
Baseline Characteristics

scholarly journals Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Dewei Li ◽  
Le Tian ◽  
Xiaochuan Wang ◽  
Min Chen
Keyword(s):  
Missense Mutation ◽  
Penetrating Keratoplasty ◽  
Vision Loss ◽  
Corneal Dystrophy ◽  
Postoperative Recurrence ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Colloidal Iron ◽  
Macular Corneal Dystrophy

Abstract Background Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese family with MCD. Methods Genomic DNA was extracted from the peripheral blood, and next generation sequencing was used to analyse the gene sequence. The pathogenic mutations were identified in all affected family members. The proband successively received binocular penetrating keratoplasty (PKP), and the corneas were examined by histopathology and colloidal iron staining to prove the diagnosis. A long-term follow-up was made to observe the changes after PKP. Results Genetic analysis demonstrated hemizygous mutations in the proband, including a novel c.520A>C (p.K174Q) missense mutation and a rarely reported exon 3 deletion mutation, which were co-segregated with the MCD phenotypes in the pedigree. The positive colloidal iron staining confirmed the diagnosis of MCD in the proband. However, the clinical phenotype and pathological manifestation of both eyes were different from each other because of complicated keratitis in the left eye. During the nine years of follow-up, visual acuity was improved significantly, and the cornea was transparent without rejection and postoperative recurrence in both eyes. Conclusions The novel hemizygous mutations were thought to contribute to the loss of CHST6 function, which induced typical clinical and pathological features of MCD. PKP was an effective treatment for MCD.

Macular Corneal Dystrophy

2009 ◽  
pp. 1244-1244
Author(s):  
Mark Oette ◽  
Marvin J. Stone ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Monika Fleckenstein ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Macular Corneal Dystrophy
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