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
