Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options

Abstract

Different genotypes imply several phenotypes, which influence therapeutical proceedings in MCD patients. Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype.

Phenotype and genotype analysis in patients with macular corneal dystrophy

“…When considering clinical course of the disease, there were noticeable differences among patients including the age of onset (ranged from first to third decade), best corrected visual acuity (ranged from 0.05 to 0.5) and the age of therapeutic procedures (20 eyes which underwent pk out of 48 analysed eyes—41.66%). This clinical course variability was reported previously for MCD patients 8 9 18…”

“…Compound heterozygosity for L200R and R205Q and compound heterozygosity for L200R and C165Y have been reported only in patients originating from a Czech population 16. A frameshift mutation 1734_1735delTG, an R211G, and one with two compound heterozygous mutations L200R, an L173F and an additional polymorphism R162G were identified in German patients and not reported among Polish or Czech populations 9. The mutations Y110C and P64L revealed during this study in Polish patients were not previously reported neither for German or Czech patients.…”

“…The missense mutation M1L was previously revealed among a German population 9. The R162G polymorphism was identified in German, American and Czech patients 8 9 16. The L200R mutation is a common finding among patients with MCD and was previously reported in American,8 15 British,12 Czech,16 Italian17 and French18 patients.…”

“…The Y110C mutation was first reported among American patients 15. The missense mutation M1L was previously revealed among a German population 9. The R162G polymorphism was identified in German, American and Czech patients 8 9 16.…”

Genetic Analysis of CHST6 Gene in Indian Families with Macular Corneal Dystrophy

“…Previous studies have revealed that frameshift mutations of CHST6 gene may lead to severe MCD phenotypes with much deeper grey white deposits [30].…”