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

Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations. Ophthalmic Genet. 2018 Apr 19;:1-3 Authors: Khan AO, Basamh OS 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. PMID: 29671668 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research