Retinal dystrophies Flashcards
what 2 things are used to diagnose a retinal dystrophy
ERG and genetics
from which part of the retina does a EOG light peak come from
the RPE
from which part of the retina does a ERG a-wave come from
photoreceptor outer segments
from which part of the retina does a ERG b-wave come from
bipolar cells
from which part of the retina does oscillatory patterns in a electroretinogram response come from
amacrine cells
from which part of the retina does a pattern ERG come from
ganglion cells and inner retina
why is ERG used to diagnose retinal dystrophies
because it can differentiate between a rod and cone dystrophy or a macula or retinal dystrophy
how does someone get a dystrophy
it is inherited
what causes a dystrophy
mutations on the chromosome, which causes the disease
it is variable penetrance/expressivity
list 5 examples of dystrophies in the eye
- cogan’s
- map-dot
- fuch’s
- stargardt’s
- RP
what two categories is retinal dystrophies divided into
either:
- macular: just affective central vision
- retina: affecting the macula or retina
which parts of the retina can a retinal dystrophy affect
- RPE
- rods
- cones
- choroid
what components/cells of the eye can be affected by a retinal dystrophy
- structural proteins
- ion channels
- proteins involved in the visual cycle
- phototransduction (all trans retina in 11-cis retinal, moving vitamin a from the choroidal circulation into the RPE and into the outer segment of rods and cones)
list some forms of macular dystrophies
- Dominant drusen
- Sorsby
- RDS
- Best
- Macular dystrophy
- Stargardt’s
- MIDD
- AD cone-rod dystrophy
- AR cone-rod dystrophy
- X-linked retinoschisis
