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Miscellaneous (41)

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Abstract #76943 Published in IGR 19-3

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

Khan AO; Basamh OS
Ophthalmic Genetics 2018; 39: 425-427

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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.

a Eye Institute, Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.

Full article

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Classification:

9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)

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