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Article

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations.

Indian journal of ophthalmology - 1 Jul 2016

Kumawat Babu Lal, Gupta Ranjan, Sharma Arundhati, Sen Seema, Gupta Shikha, Tandon Radhika

Abstract excerpt

BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusual delayed presentation of CHED with compound heterozygous SLC4A11 mutations. MATERIALS AND METHODS: A 45-year-old female, presenting with bilateral decreased vision...

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Identifiers

PMID: 27609159
DOI: 10.4103/0301-4738.190100
PMCID: PMC5026072

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