Individual phenotypic variances in a family with Avellino corneal dystrophy

Zihret Abazi,Ivana Grubisa,Dusica Risovic,Lidija Magarasevic

doi:10.1186/1471-2415-13-30

Zihret Abazi, Ivana Grubisa + Show 2 more

Open Access

https://doi.org/10.1186/1471-2415-13-30

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Abstract

BackgroundAvellino 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 presentationA 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.ConclusionThe 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.

Highlights

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)
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

Summary

Conclusion

ACD is typically an anterior stromal dystrophy, which has large intra and/or interfamilial phenotypic variation. Spectrum of clinical changes in corneal dystrophy associated with TGFBI gene may show an accumulation of deposits in the epithelium, Bowman’s layer and stroma regardless of the type of point mutations. As a relatively novel and non-invasive imaging technique of the anterior segment, ultra high resolution AS-OCT helps us demonstrate different morphologic characteristics of ACD in vivo. To our knowledge, this is the first report describing ACD in Southeastern Europe, the Balkans and Serbia. Authors’ contributions ZA Patient interaction and diagnosis, participated in interpreting the data, drafting of manuscript, final approval of manuscript. LM Patient interaction and diagnosis, final approval of manuscript. DR Provided clinical information and participated in its design, final approval of manuscript.

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