Transgenic Mouse Studies of Retinal Degeneration: Expression of The β-Subunit of cGMP Phosphodiesterase and Transducin α-Subunits

A decade ago, little was known about the mechanisms leading to retinal degenerative disease. Since then, rapid advances in molecular biological techniques have unravelled the molecular basis of a number of retinal degenerations. The initial findings of Humphries and collaborators showing linkage to human chromosome 3 of an autosomal dominant form of retinitis pigmentosa (RP) in a human pedigree1,2 led to the equally important finding by Dryja and collaborators of the Pro23His mutation in rhodopsin3. Since that time, numerous other mutations in the rhodopsin gene have been identified and linked to familial autosomal dominant4–6 and recessives7 forms of RP.