The retina: genetic studies of several retinopathies located on the short arm of chromosome 17.
The short arm of chromosome 17 has emerged as a hot spot where several phenotypically distinct retinal disorders have been mapped in the past year. An autosomal dominant retinitis pigmentosa, Leber's congenital amaurosis, autosomal dominant cone degeneration, central areolar choroidal dystrophy and Sjogren-Larsson syndrome were all recently mapped to chromosome 17p. These disorders, their genetic linkage, possible candidate genes and the possibility that several of these disorders may share candidate genes are discussed.
Joshi
A R
AR
Jules Stein Eye Institute, UCLA School of Medicine 90095, USA.
Mullen
L
L
Small
K W
KW
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D010641:Phenotype; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*