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Case Reports
. 2018 Aug;39(4):425-427.
doi: 10.1080/13816810.2018.1459738. Epub 2018 Apr 19.

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

Arif O Khan  1 , Omar S Basamh  2
Affiliations
Case Reports

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

Arif O Khan et al. Ophthalmic Genet. 2018 Aug.

Abstract

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.

Keywords: Band keratopathy; SLC4A4; pediatric glaucoma.

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