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Woong-Joo Whang, Man Soo Kim; The relationships between COL8A2 mutation and biometric measurements in Fuchs’ endothelial corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4827.
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© ARVO (1962-2015); The Authors (2016-present)
To compare clinical measurements according to the presence of collagen type VIII a2 (COL8A2) which is potential susceptibility gene for patients with Fuchs’ corneal dystrophy (FECD).
A total 56 Korean patients diagnosed with Fuchs’ endothelial cornea dystrophy were enrolled. PCR-SSCP and direct sequencing were used to screen genetic variations in COL8A2. The central corneal thickness (CCT) were measured by ultrasound pachymeter and the endothelial cell counts were measured using Konan corneal specular microscopy. The differences of CCT and endothelial cell counts between both eyes were also analyzed.
The COL8A2 gene was identified in 6 patients. (F:M = 3:3) In another 50patients, genetic mutation was not found.(F:M = 39:11) No significant differences was found in CCT (602.5 ± 85.7 versus 620.8 ± 110.4, p=0.66), however the differences between both eyes showed statistically significant differences. (70.1 ± 39.0 versus 155.0 ± 40.9, p<0.05) We also identified endothelial cell counts in both groups. 8 eyes of COL8A2 gene group showed significantly lesser endothelial cell count compared with no mutation group. (890.5 ± 157.0 versus 1673.8 ± 201.4, p<0.05)
Our data demonstrated the relatively higher bilaterality in the COL8A2 gene group. The COL8A2 gene group showed lesser endothelial cell counts compared with no mutation group. Genetic mutation would be a useful indicator for predicting the pattern of progression and bilaterality of disease in FECD patients.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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