Abazi, Zihret (55614988900)Zihret (55614988900)AbaziMagarasevic, Lidija (55790704100)Lidija (55790704100)MagarasevicGrubisa, Ivana (55789953100)Ivana (55789953100)GrubisaRisovic, Dusica (16234539700)Dusica (16234539700)Risovic2025-06-122025-06-122013https://doi.org/10.1186/1471-2415-13-30https://www.scopus.com/inward/record.uri?eid=2-s2.0-84880017002&doi=10.1186%2f1471-2415-13-30&partnerID=40&md5=988a796802838b4a1c890f8d09e884b2https://remedy.med.bg.ac.rs/handle/123456789/9076Background: 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. Case presentation. 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. Conclusion: 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. © 2013Abazi et al.; licensee BioMed Central Ltd.AS-OCTAvellino corneal dystrophyCorneaR124H mutation