RESUMO
PURPOSE: The purpose of this study was to describe the genotypic and phenotypic characteristics of an infant with a SLC4A11 mutation associated with bilateral corneal edema, hearing loss, and hydronephrosis present since birth. METHODS: This was a case report. Ophthalmic and systemic examination of the proband, histopathologic and ultrastructural characteristics of bilateral corneal discs, and molecular genetic evaluation by whole-exome sequencing are described. RESULTS: A male infant was born with bilateral corneal opacities, sensorineural hearing loss, and hydronephrosis to healthy parents after an uneventful pregnancy. Penetrating keratoplasty of the left eye at age 10 months demonstrated minimal corneal edema with normal thickness Descemet membrane and cellular endothelium with intracytoplasmic vacuoles and degenerative changes in rare cells. Penetrating keratoplasty of the right eye 6 months later disclosed prominent corneal edema with a thickened posterior banded layer of Descemet membrane and severe endothelial atrophy. Whole-exome sequencing of the proband and parents' blood demonstrated a homozygous mutation in SLC4A11 gene (c.1735_1737delCTC,p.Leu579del). The combined clinical, histopathologic, and molecular genetic findings raised consideration of an unusual phenotype of Harboyan syndrome manifesting as congenital hereditary endothelial dystrophy with a prelingual rather than, as previously described, postlingual hearing loss. CONCLUSIONS: We report a novel homozygous SLC4A11 variant with a previously undocumented phenotype of CHED in association with prelingual sensorineural hearing loss and hydronephrosis, thus broadening our understanding of the spectrum of genotypic and phenotypic findings of Harboyan syndrome.