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Clinical Manifestation of a Novel PAX6 Mutation Arg128Pro
Cecilie Bredrup, MD;
Per M. Knappskog, PhD;
Eyvind Rødahl, MD, PhD;
Helge Boman, MD, PhD
Arch Ophthalmol. 2008;126(3):428-430.
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We have restudied a Norwegian family previously examined owing to nystagmus.1 A panocular malformation with peripheral corneal opacities, correctopia, iris hypoplasia, early cataract formation, highly variable axial lengths, and foveal hypoplasia was found, causing a secondary nystagmus. A novel missense mutation in the PAX6 gene predicting an arginine-to-proline substitution (p.Arg128Pro) in the C-terminal part of the paired domain was identified. Isolated foveal hypoplasia with normal anterior segments has previously been seen in members of 2 unrelated families where the same amino acid is substituted with cysteine. This illustrates how different missense mutations affecting the same codon in the paired domain of the PAX6 gene may result in distinctly different phenotypes.
The study was approved by the Regional Medical Research Ethics Committee West.
Report of Cases
After obtaining informed consent, 9 affected and 3 unaffected adults were examined and . . . [Full Text of this Article]
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