Structural Abnormalities of the Cornea and Lid Resulting from Collagen V Mutations
Investigative Ophthalmology & Visual Science2006Vol. 47(2), pp. 565–565
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Fani Segev, Elise He ́on, William G. Cole, Richard Wenstrup, Felix Young, Allan R. Slomovic, David S. Rootman, Diana Whitaker‐Menezes, Inna Chervoneva, David E. Birk
Abstract
In the eye, COL5A1 and COL5A2 mutations manifest as abnormally thin and steep corneas with floppy eyelids. Mechanisms involved in producing the latter anomalies probably involve altered regulation of collagen fibrillogenesis due to abnormalities in heterotypic type I/V collagen interactions similar to those observed in the Col5a1+/- mouse cornea.
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