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In their article about a Hispanic KERA mutation in the September 2005 issue of the ARCHIVES, Ebenezer et al¹ discussed previously reported KERA mutations in a Finnish cohort,² a Chinese-American patient,² and a Bangladeshi family.³ They described KERA as encoding 10 conserved leucine-rich regions (LRRs) and stated that previously reported KERA mutations associated with autosomal recessive cornea plana affect 1 of these LRRs.

Ebenezer and colleagues did not reference the nonsense KERA mutation (CGA₃₁₃TGA) reported in an affected Saudi Arabian family in June 2004,⁴ and they misstated the number of LRRs that KERA contains. This Saudi mutation is predicted to cause premature protein truncation in exon 3, an exon responsible for coding 2 LRRs not recognized by Ebenezer and colleagues. Human KERA was originally described as encoding 11 LRRs—10 in exon 2 and 1 in exon 3.⁵ Thereafter, the number of LRRs coded by . . . [Full Text of this Article]

AUTHOR INFORMATION
Arif O. Khan, MD

RELATED LETTER

Further Information Regarding KERA and Recessive Cornea Plana—Reply
Neil D. Ebenezer and Richard C. Allen
Arch Ophthalmol. 2006;124(9):1372.
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Clinical and Molecular Characterization of a Family With Autosomal Recessive Cornea Plana
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