A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect
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DOI: 10.1093/hmg/ddab117
Abstract: Abstract Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide linkage analysis and array… read more here.
Keywords: color vision; chromosome 16q12; irxb gene; vision ... See more keywords