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Y.S. Rabinowitz, Y. Tang, L. Dong, G. Wistow; Aquaporin 5 – A Potential Molecular Genetic Marker for the ‘Early’ Detection of Keratoconus(KC) . Invest. Ophthalmol. Vis. Sci. 2006;47(13):1321.
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© ARVO (1962-2015); The Authors (2016-present)
To develop a molecular genetic test to ‘early’ detect KC to be used in screening for refractive surgery and genetic counseling of family members of patients with KC.
We have previously reported the suppression of transcripts of prominent epithelial cell marker Aquaporin 5(AQP–5) a water channel protein in fresh KC corneal transplant buttons immersed in RNA–later(Invest Ophthalmol Vis Sci 2005:46:1230–1246) In order to confirm these findings and to try refine this as a test for the early detection of KC, we performed the following experiments. We submitted 8 corneal buttons( 4 KC and 4 pseudophakic bullous keratopathy) and 8 corneal scleral rims from the donor corneas at the time of transplant in a blind fashion to an independent laboratory for RT–PCR analysis using ESX an epithelial marker as a normal control. We also tested 6 PRK specimens( 8 mm diameter specimens of epithelium only) of patients with mild KC for AQP–5 and ESX
RT–PCR detected AQP–5 and ESX in all pseudophakic bullous keratopathy specimens and all donor corneo–scleral rims. In the 4 KC buttons and in the 6 PRK specimens with mild KC, ESX was present but AQP–5 was absent in all specimens.
AQP–5 is suppressed in patients with mild clinically detectable KC. Future studies will focus on testing patients with ‘forme fruste’ KC to determine whether AQP–5 is a marker for subclinical disease. Supported by NEI 09052, the Skirball Program in Molecular Ophthalmology and the Eye Birth Defects Research Foundation, Inc
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