Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 80, Issue 6, Pages 1064-1075Publisher
CELL PRESS
DOI: 10.1086/518127
Keywords
-
Categories
Ask authors/readers for more resources
The present study evaluated the color vision of 44 patients with Duchenne muscular dystrophy (DMD) (mean age 14.8 years; SD 4.9) who were submitted to a battery of four different color tests: Cambridge Colour Test (CCT), Neitz Anomaloscope, Ishihara, and American Optical Hardy-Rand-Rittler (AO H-R-R). Patients were divided into two groups according to the region of deletion in the dystrophin gene: upstream of exon 30 (n = 12) and downstream of exon 30 (n = 32). The control group was composed of 70 age-matched healthy male subjects with no ophthalmological complaints plaints. Of the patients with DMD, 47% (21/44) had a red-green color vision defect in the CCT, confirmed by the Neitz Anomaloscope with statistical agreement (P < .001). The Ishihara and the AO H-R-R had a lower capacity to detect color defects -5% and 7%, respectively, with no statistical similarity between the results of these two tests nor between CCT and Anomaloscope results (P < .05). Of the patients with deletion downstream of exon 30, 66% had a red-green color defect. No color defect was found in the patients with deletion upstream of exon 30. A negative correlation between the color thresholds and age was found for the controls and patients with DMD, suggesting a nonprogressive color defect. The percentage (66%) of patients with a red- green defect was significantly higher than the expected < 10% for the normal male population (P < .001). In contrast, patients with DMD with deletion upstream of exon 30 had normal color vision. This color defect might be partially explained by a retina impairment related to dystrophin isoform Dp260.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available