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Y. S. Rabinowitz, Y. Tang; A Molecular Genetic Test for Keratoconus With Potential for Detecting Subclinical Disease. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1852. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To report preliminary data which could form the basis for a molecular genetic test for the early diagnosis of keratoconus
Nine cornea transplant buttons, seven with keratoconus, two non-keratoconus buttons, epithelial rims from three normal donor corneas and normal epithelium procured at PRK surgery, were analyzed for Aquaporin 5(AQP5) and EL3(control gene) expression in a blind fashion. Total RNA from these specimens were analyzed for AQP5 expression by RT-PCR and real time PCR(polymerase chain reaction)
All the RNA extracted from normal specimens demonstrated AQP5 and EL3 expression, while RNA prepared from the keratoconus buttons demonstrated reduced AQP5 expression. Real time PCR measurements of corneal epithelial samples demonstrated a 36 fold difference in the expression ratios of the two genes in keratoconus specimens compared to normal controls
Our preliminary data suggests that the suppression of AQP5 by PCR from epithelial biopsy specimens could serve as a marker for keratoconus and ultimately even possibly for early keratoconus
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