Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.

Biallelic mutations in the gene SLC4A4 (Solute Carrier Family 4 Member 4) cause protean manifestations in children that include proximal retinal tubular acidosis, developmental delay, band keratopathy, and glaucoma. A unique SLC4A4 mutation causes an ocular-only phenotype. In this retrospective case series, we highlight our experience with children referred to a pediatric ophthalmologist who were found to harbor underlying biallelic SLC4A4 mutations.