title: Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation.
abstract: A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.
authors.affiliation: Southern General Hospital, 1345 Govan Road, Glasgow G51 4TF UK.
authors.forename: C J M
authors.initials: CJ
authors.lastname: Diaper
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: P
authors.initials: P
authors.lastname: Chaubert
authors.forename: F L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D000293:Adolescent; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016039:Corneal Transplantation / Q000379:methods; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014792:Visual Acuity / Q000235:genetics; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D005136:Eye Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein