A new mass screening test for color-vision deficiencies in children

Five thousand one hundred and twenty-nine Wis- consin children, ages 4 -12 years, were tested for color- vision deficiencies using a newly devised, precisely cali- brated paper-and-pencil test. The disposable 1-page test consisted of 1 demonstration and 8 test panels. Thousands of copies of the test were produced, and they were distrib- uted and administered in classrooms by teachers. Children wrote directly on the test and were allowed to trace over the symbols with a pencil or crayon, if they had difficulty. Performance on the paper-and-pencil color vision test was compared with that on conventional tests of color vision including Ishihara's tests, the American Optical-Hardy Rand and Rittler (AO-HRR) plate test, and the APT-5 Color Vision Tester. Older children were also tested on the Nagel Anomaloscope. All the children who were classified as having a color vision deficiency by the paper-and-pencil test also failed one or more of the conventional tests. Likewise, among children who passed the paper-and-pencil test, none were classified as having a color-vision defect from the results on the conventional tests. In the sample of all males, 7.5% were classified as having a color-vision deficiency, which is consistent with what has been observed previously in large population studies. Children who were classified as having color vision deficiencies were examined further us- ing a new minimalist genetic test that was shown to be accurate and reliable. Genetic material derived from buccal swabs was used to determine the type of deficiency, protan vs. deutan, and to provide added information about severity. Among the subjects for whom type could be determined, 27% were protans, consistent with large population studies in which approximately 25% of red-green deficiencies have been found to be of the protan type. Classification of the severity of the deficiencies determined from the paper-and- pencil test plus minimal genetics were in good agreement with classification based on a battery of conventional tests. In conclusion, we found the methods used here to be rapid, efficient, and reliable for testing color vision in children.

[1]  J. Winderickx,et al.  Polymorphism in red photopigment underlies variation in colour matching , 1992, Nature.

[2]  J. Nathans,et al.  Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. , 1986, Science.

[3]  Jay Neitz,et al.  The importance of deleterious mutations of M pigment genes as a cause of color vision defects , 2001 .

[4]  J D Mollon,et al.  The polymorphic photopigments of the marmoset: spectral tuning and genetic basis. , 1992, The EMBO journal.

[5]  Samir S. Deeb,et al.  Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype , 1999, Nature Genetics.

[6]  Numbers and ratios of X-chromosomal-linked opsin genes , 1998, Vision Research.

[7]  J. Neitz,et al.  Numbers and ratios of visual pigment genes for normal red-green color vision , 1995, Science.

[8]  G. H. Jacobs,et al.  Analysis of fusion gene and encoded photopigment of colour-blind humans , 1989, Nature.

[9]  Jay Neitz,et al.  L-cone pigment genes expressed in normal colour vision , 1998, Vision Research.

[10]  J. Mollon,et al.  Variations of colour vision in a New World primate can be explained by polymorphism of retinal photopigments , 1984, Proceedings of the Royal Society of London. Series B. Biological Sciences.

[11]  J Nathans,et al.  Absorption spectra of the hybrid pigments responsible for anomalous color vision. , 1992, Science.

[12]  J Nathans,et al.  Red, Green, and Red-Green Hybrid Pigments in the Human Retina: Correlations between Deduced Protein Sequences and Psychophysically Measured Spectral Sensitivities , 1998, The Journal of Neuroscience.

[13]  Jay Neitz,et al.  Expression of L cone pigment gene subtypes in females , 1998, Vision Research.

[14]  G H Jacobs,et al.  Spectral tuning of pigments underlying red-green color vision. , 1991, Science.

[15]  Jay Neitz,et al.  Genetic basis of photopigment variations in human dichromats , 1995, Vision Research.

[16]  S. Shevell,et al.  Trichromatic color vision with only two spectrally distinct photopigments , 1999, Nature Neuroscience.

[17]  D. Oprian,et al.  Molecular determinants of human red/green color discrimination , 1994, Neuron.

[18]  D. Teller,et al.  Severity of color vision defects: electroretinographic (ERG), molecular and behavioral studies , 1998, Vision Research.

[19]  S. Shevell,et al.  Relating color discrimination to photopigment genes in deutan observers , 1998, Vision Research.

[20]  Elizabeth Sanocki,et al.  Defective colour vision associated with a missense mutation in the human green visual pigment gene , 1992, Nature Genetics.

[21]  J. Nathans,et al.  Molecular genetics of inherited variation in human color vision. , 1986, Science.

[22]  J Nathans,et al.  ROLE OF HYDROXYL‐BEARING AMINO ACIDS IN DIFFERENTIALLY TUNING THE ABSORPTION SPECTRA OF THE HUMAN RED AND GREEN CONE PIGMENTS , 1993, Photochemistry and photobiology.

[23]  J. Winderickx,et al.  Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. , 1992, American journal of human genetics.

[24]  J. Neitz,et al.  Visual Pigment Gene Structure and the Severity of Color Vision Defects , 1996, Science.

[25]  G. H. Jacobs,et al.  Electrophysiological estimates of individual variation in the L/M cone ratio , 1993 .

[26]  J. Neitz,et al.  Variations in cone populations for red–green color vision examined by analysis of mRNA , 1998, Neuroreport.