Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early-onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome. More recently, four sporadic patients with late-onset Fuchs corneal dystrophy (FCD), a common age-related disorder, were also
SLC4A11 mutations in Fuchs endothelial corneal dystrophy
โ Scribed by Vithana, E. N.; Morgan, P. E.; Ramprasad, V.; Tan, D. T.H.; Yong, V. H.K; Venkataraman, D.; Venkatraman, A.; Yam, G. H.F.; Nagasamy, S.; Law, R. W.K.; Rajagopal, R.; Pang, C. P.; Kumaramanickevel, G.; Casey, J. R.; Aung, T.
- Book ID
- 121819674
- Publisher
- Oxford University Press
- Year
- 2007
- Tongue
- English
- Weight
- 781 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0964-6906
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Mutations in the SLC4A11 gene, which encodes a plasma membrane borate transporter, cause recessive congenital hereditary endothelial corneal dystrophy type 2 (CHED2), corneal dystrophy and perceptive deafness (Harboyan syndrome), and dominant late-onset Fuchs endothelial corneal dystrophy (FECD). We
Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter, characterized by corneal opacification and nystagmus. Recently the gene for CHED2 was identified and seven different mutations in the SLC4A11 ge