Retina Vitreous 2 Flashcards
whats a retinal dystrophy
hereditary disorder
affects either retina/ macular
RP- AKA retinitis Pigmentosa
dystrophy of pigment epithelium and photoreceptors
Bone spicule pigmentaion attenuated narrow arterioles optic atrophy CMO peripheral field loss posterior subcapsular catracr ERC/ECG abnormal
ring scotoma, problems with night vision- slow progression of peripheral vision loss
x-linked-most severe form/autosomal dominant- mild, late +slow progression/ autosomal recessive
Systemic factors associated: ushers syndrome- hearing loss- deaf and blind, rubella syndrome.
No cure- just management counseling referral to low vision clinic- sunglasses if glare also to prevent UV damage regular sight tests- incase CMO or glaucoma or cataracts genetic counselling? estermann field test blind/partial sighted
drugs and retinal pigments: what can u use. why so .
drugs aren’t usually used
vitamina a/beta carotene: antioxidants maybe help?
acetazolamide: diamox: for CMO- crbonic anhydrase inhibitor
congenital stationary night blindness
nyctalopia- delay or inability to achieve normal dark-adapted rod thresholds
associated with myopia/nystagmus and strabismus
no progression so px adapt to it well
xlinked, recessive and domiannat
Lebers
RARE- MULTISYSTEM DISEASE- blindness/keratconos/hypermetropia/cataract/nystagmus. learning disability? deafness? endocrine dysfunction
autosominal recessive
blind from birth- oculodigital syndrome- constant rubbing of eye- endopthalmos eyes sunken in socket
poor prognosis- but some gene therapy
choroideremia
RARE INHERITED
x-linked males recessive - degeneration of choriocapillares, RPE and photoreceptors
due to degeneration of choroid and retina
night blindness
loss of vision starting as a ring going in and out
rate varies- even in same family
whats a macular dystrophy
affect macular
young age
give us information about amd
stargardts disease
STGD1
retinal degeneration in children- 15
autosominal recessive
loss of central va- 6/120
yellow flecks at RPE level- abnormal pigment
vermillion fundus
increased levels of lipofuscin- autoflouressence
normal FL ang tho
electrodiagnostic tests- v variable- erg abnomal- erg cone pathway affected
Fundus flavimaculatus- 1962
same as stargadtes? affects more of the retina
latter onset
autosmoinal recessive
what’s the ABCA4 gene
encodes the ABCR protein- for photoreceptors- build up of all-trans-retinal which then build up lipofuscin and RPE toxicity -and photoreceptor degeneration
should px with stragdtes take vitamin a/betacarotene
no as vit A- builds levels of all-trans-retinal which increases lipofuscin-
also avoid blue light and sunlight- as they increase in photo-oxidative damage
BESTS disease, this is not the best
vitelliform
DOMINANT
5 stages:
1. mild yellow pigment at macular- va normal
2/3.yellow separates- egg yolk- can have many . yellow material is degenerative RPE cells
4/5. lesoin becomes scrambled- heals to a scar. va drops.
may get CNV
eRG is norm, EOG isn’t
adult onset- fovea macular- vitelliform macular dystrophy
coomon- u may see in practice noFH, asymptomtic? mild loss of vision- in over 40s bilatereal/symetrical/yellow material normal eog PATTERN DYSTROPHY
Whats a pattern dystrophy
affect RPE bilateral symmetrical mild VA changes auto dominant usually yellow pigment at RPE
classification of pattern dystrophies- due to fundus
may be asymptomatic
- Adult-onset vitelliform macular dystrophy
- Butterfly-shaped macular dystrophy
- Reticular dystrophy
- Multifocal pattern dystrophy like Stargardt’s
- Fundus pulverulentus
Marked variation, and change in lesions. May have subnormal EOG but normal ERG.
Associated with pseudoxanthoma elasticum and myotoinic dystrophy
retinal drusen related dystrophy
autosominal domiant
can be mixed with AMD- but the shape of drusen at OD and macular
be aware of malattia leventisee- radial drusen and dwoyne honey comb
RF for CNV
sorsbys fundus dystrophy
early onset of reduced night vision- drusen and yellow pigment- VIT A to help with loss of night vision
then loss of central vision- CNV
mutation on TIMP3 gene
differences between dystrophy and drusen
dystrophy in younger around OD and macula symmetrical marked FH and a dystrophy would have other features such as night blindness
rarer dystrophies u may come across
- Juvenile retinoschisis- x-linked- males- early onset in childhood- macular appears like wheel with spokes. due to splitting of NFL. Erg has reduced b. photophobia
- Progressive cone dystrophy- stationary/progressive, could be complete or partial colour blindness. Day blindness/photophoiba, nystagmus. In teens/early adulthood. AR/ AD or x-linked. You get a BULLS eye appearance, central scotoma, reduced cone responses to reduced rods aswell.
- Benign concentric annular macular dystrophy
- Autosomal dominant cystoid macular oedema- RARE- photophobia-
- Central areolar choroidal dystrophy- common- looks like dry amd- AD- FH-
- NOrth carolina macular dystrophy- rare- AD- non progressive- diagnosed in childhood- drusen
where do u see bulls eye maculopathy
Stargardt’s Disease Progressive cone dystrophy Chloroquine maculopathy Geographic atrophy in dry AMD Rod-cone dystrophy Benign concentric macular dystrophy Batten’s disease
How can u diagnose a ret/macular dystrophy
take history- affect at younger age
AMD- usually elderly
Vision at nigh? RP
wot about sunny conditions- cone dystrophy/rare maculopathy?
colour blindness? cone dystrophy
if child- parents have strabismus or diplopia
FH needed
how would u examine for a dystrophy
VA- D and N fundus photography look at OD, Macular oct/ angiography look for symmetry nystagmus/ unusual Rx colour vision
