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Article

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Cornea - 1 Mar 2014

Siddiqui Salina, Zenteno Juan Carlos, Rice Aine, Chacón-Camacho Oscar, Naylor Steven G, Rivera-de la Parra David, Spokes David M, James Nigel, Toomes Carmel, Inglehearn Chris F, Ali Manir

Abstract excerpt

PURPOSE: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether patients with...

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Source

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Identifiers

PMID: 24351571
DOI: 10.1097/ICO.0000000000000041
PMCID: PMC4195577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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