Meesmann Corneal Dystrophy; a Clinico-Pathologic, Ultrastructural and Confocal Scan Report
نویسندگان
چکیده
PURPOSE To report the microstructural features of Meesmann corneal dystrophy (MCD) in two patients. CASE REPORT The first patient was a 10-year-old boy who presented with bilateral visual loss, diffuse corneal epithelial microcystic changes, high myopia and amblyopia. With a clinical impression of MCD, automated lamellar therapeutic keratoplasty was performed in his left eye. Histopathologic examination of the corneal button disclosed epithelial cell swelling and cyst-like intracytoplasmic inclusions. The cells contained moderate amounts of periodic acid-Schiff-positive and diastase-sensitive material (glycogen). Transmission electron microscopy revealed numerous vacuoles and moderate numbers of electron-dense membrane-bound bodies in the cytoplasm, similar to lysosomes, some engulfed by the vacuoles. The second patient was a 17-year-old female with a clinical diagnosis of MCD and episodes of recurrent corneal erosion. On confocal scan examination of both corneas, hyporeflective round-shaped areas measuring 6.8 to 41.4 μm were seen within the superficial epithelium together with irregular and ill-defined high-contrast areas in the sub-basal epithelial region. The subepithelial nervous plexus was not visible due to regional hyperreflectivity. CONCLUSION This case report further adds to the microstructural features of Meesmann corneal dystrophy and suggests confocal scan as a non-invasive method for delineating the microstructural appearance of this rare dystrophy.
منابع مشابه
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann`s corneal dystrophy in a German family
PURPOSE To report a novel missense mutation of the cornea specific keratin 12 (KRT12) gene in two generations of a German family diagnosed with Meesmann;s corneal dystrophy. METHODS Ophthalmologic examination of the proband and sequencing of keratin 3 (KRT3) and KRT12 of the proband and three other family members were performed. Restriction enzyme analysis was used to confirm the detected mut...
متن کاملKeratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy
Meesmann epithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative mutations within the KRT3 or KRT12 genes, which encode the cytoskeletal protein keratins K3 and K12, respectively. To investigate the pathomechanism of this disease, we generated and phenotypically characterized a novel knock-in humanized mouse model carrying the severe, MECD-associate...
متن کاملGenetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation
PURPOSE Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in ...
متن کاملExclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy
PURPOSE With advances in phenotyping tools and availability of molecular characterization, an increasing number of phenotypically and genotypically diverse inherited corneal dystrophies are described. We aimed to determine the underlying causative genetic mechanism in a three-generation pedigree affected with a unique anterior membrane corneal dystrophy characterized by early onset recurrent co...
متن کاملA novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
BACKGROUND The molecular basis of Meesmann's epithelial corneal dystrophy (MECD) has recently been attributed to mutations in the cornea specific keratin genes KRT3 and KRT12. The mechanisms by which these mutations cause the Meesmann's phenotype are not clear. This study presents new data, examines clinical, histological, ultrastructural, and molecular aspects of MECD, and compares the feature...
متن کامل