Retinitis pigmentosa Flashcards
1
Q
Define retinitis pigmentosa
A
Congenital inherited condition; degeneration of rods & cones
2
Q
Important RFs for pigmentosa
A
Genetics & FH
3
Q
Presentation of pigmentosa
A
- night blindness (more rods degenerate than cones)
- peripheral vision lost before central
4
Q
Fundoscopy finding of pigmentosa
A
Bone spicule pigmentation around mid-peripheral area
5
Q
Usher’s syndrome that is associated with pigmentosa (just to be aware of)
A
Hearing loss + retinitis pigmentosa
6
Q
Bassein-kornzweig syndrome associated with pigmentosa (just to be aware of)
A
Fat absorption & metabolism disorder —> progressive neurological symptoms + retinitis pigmentosa
7
Q
Refsum’s syndrome associated with pigmentosa (just to be aware of)
A
Metabolic disorder of phytanic acid
