title: Individual phenotypic variances in a family with Avellino corneal dystrophy.
abstract: BACKGROUND
  Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presence of deposits in the anterior stroma, and results from a specific mutation (R124H) in the transforming growth factor beta-induced gene (TGFBI). This report presents corneal dystrophy of the Bowman layer as a rare phenotypic appearance of ACD and a high intra-familial variability of phenotype in patients with ACD.
  
  
  METHODS
  A 56 year-old Caucasian woman with recurrent corneal erosions was diagnosed with corneal dystrophy of the Bowman layer after a clinical examination. Optical coherence tomography of the anterior segment (AS-OCT) mainly demonstrated deposits in the Bowman layer and a few deposits in the superficial stroma. Her son, a 36 year-old man, has a typical clinical presentation of ACD with all the deposits arranged in stromal layers. In his case, the opacities resemble snowflakes between the granular deposits, and AS-OCT shows large, snowflake-like deposits in the superficial and deep stroma without accumulation in the Bowman layer. Genetic screening in both cases shows the heterozygous R124H mutation in the TGFBI gene.
  
  
  CONCLUSIONS
  The clinical finding of the granular-lattice corneal dystrophy in which deposits are located in the Bowman layer may be an atypical presentation of ACD. This paper demonstrates a high degree of variability in the quantity and form of deposits between ACD heterozygotes. This is the first description of Avellino corneal dystrophy in the Balkans and in Serbia.
authors.affiliation: Eye Clinic, Zvezdara University Medical Center, 161 Dimitrija Tucovica Street, 11000, Belgrade, Serbia. zihret@dr.com
authors.forename: Zihret
authors.initials: Z
authors.lastname: Abazi
authors.forename: Lidija
authors.initials: L
authors.lastname: Magarasevic
authors.forename: Ivana
authors.initials: I
authors.lastname: Grubisa
authors.forename: Dusica
authors.initials: D
authors.lastname: Risovic
mesh_terms: D000328:Adult; D000869:Anterior Eye Segment / Q000473:pathology; D050541:Bowman Membrane / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000473:pathology*; D019573:Epithelium, Corneal / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D041623:Tomography, Optical Coherence