Kamenarova et al. (2013) studied a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy with a slightly variable but early age of onset, at around 10 years of age. Affected individuals had gradual visual impairment and photophobia; ophthalmoscopy ... Kamenarova et al. (2013) studied a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy with a slightly variable but early age of onset, at around 10 years of age. Affected individuals had gradual visual impairment and photophobia; ophthalmoscopy revealed typical signs of CORD including narrowing of retinal vessels, scattered bone-spicule pigmentation in the midperipheral retina, retinal pigment epithelium atrophy, and optic disc pallor. Electroretinography showed reduced photopic and scotopic responses, and visual field examination demonstrated central scotoma.
In a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy (adCORD) mapping to chromosome 10q26, Kamenarova et al. (2013) screened key positional candidate genes but found no pathogenic variants, and high-density oligonucleotide-based array CGH revealed no chromosomal aberration, ... In a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy (adCORD) mapping to chromosome 10q26, Kamenarova et al. (2013) screened key positional candidate genes but found no pathogenic variants, and high-density oligonucleotide-based array CGH revealed no chromosomal aberration, deletion, or amplification of a part of whole gene.