Cone-rod dystrophy (crd)    274

General: Autosomal dominant; retinal dystrophy of photoreceptors, characterized by abiotrophic degeneration of rods and cones; onset before age 10 years; it has been suggested that a locus for cone-rod dystrophy may be located in the segment 18q21.1-q21.3 and 19q.

Ocular: Decreased central vision with progressive constriction of peripheral visual fields; degeneration of rods and cones.

Clinical: None.

Ferrell RE, et al. Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. Am J Med Genet 1981; 8:363-369.

Hittner HM, et al. Dominant cone-rod dystrophy. Doc Ophthalmol 1975; 39:29-52.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Warburg M, et al. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. Am J Med Genet 1991; 39:288-293.