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

Arif O. Khan; Omar S. Basamh

doi:10.1080/13816810.2018.1459738

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

Arif O. Khan
, Omar S. Basamh

Cleveland Clinic Abu Dhabi

King Abdullah Medical City

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English
Pages (from-to)	425-427
Number of pages	3
Journal	Ophthalmic Genetics
Volume	39
Issue number	4
DOIs	https://doi.org/10.1080/13816810.2018.1459738
State	Published - 4 Jul 2018

Keywords

Band keratopathy
SLC4A4
pediatric glaucoma

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10.1080/13816810.2018.1459738

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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.",

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

Abstract

Keywords

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