An unuual clinical phenotype of avellino corneal dytrophy aociated with an Arg124Hi βiG-H3 mutation in an African-American woman

Purpoe To decribe the clinical feature, hitologic change, and genetic analyi of Avellino corneal dytrophy in an African-American woman. Deign Interventional cae report. Method A 79-year-old African-American woman with corneal depoit conitent with Avellino corneal dytrophy wa tudied with hitologic and genetic analyi. Reult The patient had multiple crumb-like opacitie in the anterior troma of both eye. Deep to thee leion were numerou faint, tellate lattice leion. Corneal craping confirmed the preence of Maon trichrome and Congo red poitive ubepithelial depoit. Genetic analyi revealed a heterozygou CGC/CAC change in exon 4 of the βiG-H3 gene, reulting in an arginine to hitidine ubtitution at codon 124. Concluion Thi cae reveal everal novel finding, including urface change reembling vortex dytrophy and large granular depoit protruding through the anterior corneal urface. Thi i the firt cae decribed in an African-American patient.