title: 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.
authors.affiliation: Departamento Psicologia Experimental, Universidade de Sao Paulo, Sao Paulo, Brazil. costamf@usp.br
authors.forename: Marcelo Fernandes
authors.initials: MF
authors.lastname: Costa
authors.forename: Andre Gustavo Fernandes
authors.initials: AG
authors.lastname: Oliveira
authors.forename: Claudia
authors.initials: C
authors.lastname: Feitosa-Santana
authors.forename: Mayana
authors.initials: M
authors.lastname: Zatz
authors.forename: Dora Fix
authors.initials: DF
authors.lastname: Ventura
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D003118:Color Perception; D003119:Color Perception Tests / Q000379:methods*; D003117:Color Vision Defects / Q000145:classification / Q000175:diagnosis*; D016189:Dystrophin / Q000172:deficiency / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D012016:Reference Values; D012680:Sensitivity and Specificity
chemical_list: D016189:Dystrophin