Contact: Gina M. DiGravio
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GENE IDENTIFIED FOR RARE VISION DISORDER
Boston, MA--Boston University School of Medicine researchers have identified the second locus for a recessive gene which causes achromatopsia - a rare genetic disorder which results in not only an inability to see any color at all, but causes the individual to be regarded as legally blind. Additional features include photophobia, extreme near-sightedness, and nystagmus - the uncontrollable, oscillation of the eyes. This research report appears in the July issue of the journal Clinical Genetics.
According to the work presented by Aubrey Milunsky, MD, DSc, professor of human genetics and pediatrics, and director of the Center for Human Genetics at Boston University School of Medicine, this study of a unique family in which five of 12 children were affected, enabled the detection of the locus of this rare gene which maps to chromosome 8q.
The research team also suspected that three of the eight children, who suffered from mental retardation in addition to achromotopsia, might also somehow be affected by the action of this gene. However, Milunsky commented, "We found no linkage to the 8q locus thus far, and a thorough evaluation, including an X-chromosome study using DNA probes did not reveal a locus on the X-chromosome or a related or contiguous gene."
This discovery of a second gene for achromatopsia provides new insights into the genetics of vision and color vision and will facilitate development of therapeutic approaches for this rare and debilitating disorder.
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