Kelsell et al. (1998) described a 4-generation British family with autosomal dominant cone-rod dystrophy. Affected members first became aware of reduced color vision and visual acuity between the ages of 20 and 40 years. As the disorder progressed, ... Kelsell et al. (1998) described a 4-generation British family with autosomal dominant cone-rod dystrophy. Affected members first became aware of reduced color vision and visual acuity between the ages of 20 and 40 years. As the disorder progressed, they reported difficulty seeing in bright light. At the onset of symptoms, retinal pigmentary changes were already present around the fovea, simulating a bull's eye dystrophy, and progressed to macular atrophy. Kniazeva et al. (1999) examined 10 members of a 4-generation family segregating an autosomal dominant form of macular dystrophy and identified 5 individuals with characteristic features of cone-rod dystrophy and Stargardt disease; a sixth family member (deceased) was classified as affected by history. Most affected individuals had gradual onset of decreased visual acuity during the fourth decade, bilateral macular atrophy, diffusely abnormal ERG responses, and markedly reduced color vision. In addition, several affected individuals demonstrated features highly suggestive of Stargardt-like disease (see 248200), such as yellow 'flavimaculatus flecks' in the retinal pigment epithelium and a 'dark choroid' pattern on fluorescein angiography.
In 6 affected members of the 4-generation British family with CORD7, previously described by Kelsell et al. (1998), Johnson et al. (2003) identified heterozygosity for a missense mutation in the RIMS1 gene (606629.0001). The mutation was not found ... In 6 affected members of the 4-generation British family with CORD7, previously described by Kelsell et al. (1998), Johnson et al. (2003) identified heterozygosity for a missense mutation in the RIMS1 gene (606629.0001). The mutation was not found in 3 unaffected members of the family or in 115 ethnically matched controls. The authors stated that this was the first example of a mutation in a protein with a defined role in synaptic function giving rise to a retinal disease.