Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy

Abstract

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. 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.

Visual acuity evaluation in children with hydrocephalus: An electrophysiological study with sweep visual evoked potential

“…Several studies in our laboratory show changes in visual functions in many neurological patients with normal ophthalmologic diagnosis [20][21][22].…”

Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene

“…Cardiac or respiratory complications are life-threatening. DMD may also be accompanied by non-muscle symptoms [1], including mental retardation [2], red-green color vision impairment [3], electroretinogram abnormalities [4] and short stature [5,6].…”

Reevaluation of Dystrophin Localization in the Mouse Retina

“…22 The cause of the b-wave reduction in both humans and mouse models is thus still not understood. Moreover, a red-green color vision defect was recently reported in some DMD patients, 23 which is hard to explain with the distribution of all dystrophins other than Dp71 restricted to photoreceptor terminals. Therefore, we aimed to reassess the distribution of dystrophin proteins in the retina using a combination of laser capture microdissection combined with RT-PCR, in situ hybridization, and immunohistochemistry.…”