H00726 | |
H number | H00726 |
Name | Meesmann corneal dystrophy |
Description | Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits. |
Category | Nervous system disease |
Network | - |
Gene | KRT3 [HSA:3850] [KO:K07605] KRT12 [HSA:3859] [KO:K07604] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 9A70.Y ICD-10: H18.5 MeSH: D053559 OMIM: 122100 |
Reference | PMID:12688839 AUTHORS Smith F TITLE The molecular genetics of keratin disorders. JOURNAL Am J Clin Dermatol 4:347-64 (2003) DOI:10.2165/00128071-200304050-00005 PMID:17986293 AUTHORS Ehlers N, Hjortdal J, Nielsen K, Thiel HJ, Orntoft T TITLE Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family. JOURNAL Acta Ophthalmol 86:40-4 (2008) DOI:10.1111/j.1600-0420.2007.00931.x PMID:18806880 AUTHORS Szaflik JP, Oldak M, Maksym RB, Kaminska A, Pollak A, Udziela M, Ploski R, Szaflik J TITLE Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. JOURNAL Mol Vis 14:1713-8 (2008) PMID:17653038 AUTHORS Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW TITLE A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. JOURNAL Mol Vis 13:975-80 (2007) |