Danciger et al. (2001) described a consanguineous Brazilian family segregating autosomal recessive CORD. Affected family members had childhood-onset visual acuity impairment, which progressed over decades to major loss of central and then peripheral visual function. In the 2 ... Danciger et al. (2001) described a consanguineous Brazilian family segregating autosomal recessive CORD. Affected family members had childhood-onset visual acuity impairment, which progressed over decades to major loss of central and then peripheral visual function. In the 2 adult family members tested, visual acuity was 20/200 with a preserved midperipheral crescent on visual field testing. Refractive error was modest myopia with astigmatism. Small posterior subcapsular cataracts were present. Parry et al. (2009) studied 3 additional consanguineous families segregating CORD9. One was of Pakistani origin, 1 Tunisian Jewish, and the other Arab Muslim. Affected individuals in these families reported poor visual acuity in the first decade of life, but nystagmus and photophobia were not noted. Outer retinal atrophy was observed in the macula. Most patients had discrete white patches in the posterior pole and around the optic disc with a pigmentary retinopathy, anterior to the equator. The midperipheral retina showed minimal changes on clinical exam of young patients, and older patients peripheral pigmentary changes could be observed in some cases. Electroretinograms (ERGs) showed a similar degree of rod and cone involvement.
Danciger et al. (2001) screened the exons of a dual specificity phosphatase gene (DUSP4; 602747) that maps in the CORD9 region but identified no disease-causing mutations.
In 4 consanguineous families with cone-rod dystrophy linked to the ... Danciger et al. (2001) screened the exons of a dual specificity phosphatase gene (DUSP4; 602747) that maps in the CORD9 region but identified no disease-causing mutations. In 4 consanguineous families with cone-rod dystrophy linked to the CORD9 locus, Parry et al. (2009) identified 4 different mutations in the ADAM9 gene (602713).