An unusual clinical phenotype of avellino corneal dystrophy associated with an Arg124His βiG-H3 mutation in an African-American woman

Abstract Purpose To describe the clinical features, histologic changes, and genetic analysis of Avellino corneal dystrophy in an African-American woman. Design Interventional case report. Methods A 79-year-old African-American woman with corneal deposits consistent with Avellino corneal dystrophy was studied with histologic and genetic analysis. Results The patient had multiple crumb-like opacities in the anterior stroma of both eyes. Deep to these lesions were numerous faint, stellate lattice lesions. Corneal scraping confirmed the presence of Masson trichrome and Congo red positive subepithelial deposits. Genetic analysis revealed a heterozygous CGC/CAC change in exon 4 of the βiG-H3 gene, resulting in an arginine to histidine substitution at codon 124. Conclusions This case reveals several novel findings, including surface changes resembling vortex dystrophy and large granular deposits protruding through the anterior corneal surface. This is the first case described in an African-American patient.