Retinal degeneration 2 prph2rd2

Retinal degeneration 2 (Prph2Rd2)

The fourth retinal degeneration is retinal degeneration-slow, formerly rds. Later it was found to be partially dominant and so renamed Rds, and it has since been renamed Rd2 in the series because its slow progression is no longer unique. Homozygotes show retinal degeneration of early and slow progression. 

Mutations in the human gene for peripherin have been shown to cause slow retinal degeneration (OMIM 179605) similar to that caused by the mouse Prph2Rd2 mutation.


Mouse Chromosome

Human Chromosome

Retinal ONL disappear by


Prph2Rd2 17 6p 12 O20/A; C3.BliA-Prph2Rd2