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Congenital hereditary endothelial dystrophy (CHED) is an inherited disorder of the corneal endothelium characterised by bilateral non-inflammatory corneal clouding ranging from a diffuse haze to a ground-glass appearance. CHED can be inherited in an autosomal dominant (CHED1) or recessive (CHED2) manner. CHED2 usually presents at birth or early infancy. Bilateral corneal clouding can lead to visual impairment often accompanied by nystagmus in CHED2 patients requiring corneal transplantation.1
Mutations in the solute carrier family 4 member 11 (SLC4A11) gene have been identified in most patients with CHED2. With PCR sequencing of the entire coding and putative promoter regions of SLC4A11, there were, however, some clinically confirmed CHED2 patients with undetected SLC4A11 mutations.2
Three affected siblings with CHED2 from a non-consanguineous Thai family were seen at the age of 7, 17 and 20 years, respectively. A diagnosis of CHED2 was made by clinical features, histopathological and confocal microscopic findings. All had corneal haze since birth. Nystagmus was present in the 20-year-old brother and the 7-year-old sister. None had sensorineural hearing loss. Both parents had clear corneas and denied a family history of corneal disorders.
To identify the genetic defects, we first performed PCR sequencing covering the entire coding region of SLC4A11. A novel c.778A>G mutation resulting …