Retinal dystrophies and Inflammatory eye disease Flashcards
list 5 common retinal dystrophies
Retinitis Pigmentosa
Cone dystrophy
Stargardt’s disease and fundus flavimaculatus
Best Disease
Autosomal dominant drusen
what is retinitis pigmentosa and what symptom do pxs present with
Inherited degeneration of the rod system of the retina
Patients present with night blindness and loss of peripheral vision
which types of RP patients have a more severe form of the disease
Autosomal recessive and X-linked
list 3 main fundal changes consistent with RP
‘bone speculated ‘ pigmented lesions at the location of the mid equator
Attenuated arterioles
Waxy disc pallor
what does the pigmented areas of RP represent
photoreceptor loss
which types of investigative tests will be carried out for RP
name 2
visual fields and Electrodiagnostic testing
name 6 other ocular manifestations associated with RP
Keratoconus
Glaucoma
Cataract - at an earlier age
Posterior vitreous detachment
ERM
Cystoid macular oedema
list 5 systemic manifestations of RP
Ushers – deafness
Kern –Sayes – ptosis, heart conduction problems, Chronic progressive external ophthalmoplegia
Laurence –Moon – mental retardation
Bardet – Biele – Obesity, polydactyly
Refsums – Heart problem, polyneuropathy
list 6 ways to manage a person with RP
Treat and correct ocular manifestations i.e. cataract surgery, macular oedema
Monitor progression – annual field tests
Genetic counselling – probability of further offspring being affected
Support networks / groups – increase awareness of condition
Involvement of trials and biobanks – increase research for the condition
Visual rehabilitation – low visual aids, sight impairment registration
as well as the cone system in Progressive Cone Dystrophy, what else may also be affected
what 2 ways can Progressive Cone Dystrophy obtained
Rods may also be affected
Either inherited or sporadic
what will confirm the diagnosis of Progressive Cone Dystrophy
EDTs
what will be the first symptom of a px with Progressive Cone Dystrophy and why
what 2 things are seen as the condition progresses
Patients macular function is affected and hence reading may be first to be affected
As the condition progresses geographic atrophy and a bulls eye maculopathy occurs
what is the most common hereditary dystrophy affecting the central retina
Stargardt’s disease
with or without fundus flavimaculatus
which type of inheritance is Stargardt’s disease and when in life does it usually present
Autosomal recessive condition
Presents at childhood (aged about 6 years) to early adulthood: bilateral (usually) decreased central vision
what is the prognosis of stargart’s disease and why
generally poor
Most patients experience rapid deterioration of vision during the first two decades of life. Once vision drops below 6/12, progression is rapid and the visual prognosis is poor
name 2 fundal features of Stargardt’s disease
Macular has a characteristic ‘slimy snail track’ appearance
with surrounding atrophic piscifom lesions which represent the fundus flavimaculatus
what features is Bests disease characterised by
an abnormal accumulation of lipofuscin at the level of the RPE.
This grows over years, eventually to give rise to a characteristic round egg-yolk appearance and which may be later associated with a pseudo-hypopyon.
which type of inheritance is Bests disease
Autosomal dominant
with Bests disease, what do changes occur in before symptomatic
what may declining visual acuity be a reflection of
Changes occur in EOG readings in children before they are symptomatic
Vision may be only slightly decreased in childhood and teenage years when the ‘egg-yolk lesion’ is present
Declining visual acuity may be a reflection of macular scarring
what is Autosomal dominant drusen and what are these patients at high risk of developing
Presence of drusen in patients under 50 years of age
High risk of developing wet macular degeneration at a young age
name 3 subtypes of Autosomal dominant drusen
Doyne’s honeycomb choroiditis
malattia leventinese
North Carolina macular dystrophy
Are predisposed to getting wet AMD
what do patients with Inflammatory Eye Disease present with and at what time of life
They present with either anterior, intermediate, posterior uveitis
generally young to middle aged
list 5 symptoms of Inflammatory Eye Disease
red eye
photophobia
floaters
blurry vision
visual loss depending on what compartment of the eye is affected
list 5 signs to look out for in Inflammatory Eye Disease
KPs
cells in the anterior chamber and vitreous
iris nodules
fundal examination may include
- vasculitis
- macular oedema
as well as an ocular investigation, what else should be investigated in Inflammatory Eye Disease and why
A systemic work up is required
which includes specialised blood tests and radiological investigations. This is to rule out any infective causes for the inflammation
list 4 causes of Inflammatory eye condition
Sarcoidosis
Behcets disease
Birdshot
AMPPE
what ocular sign is seen with Sarcoidosis
Granulomatous inflammation (mutton fat KPs in anterior segments) which can affect anterior and posterior segments and bilaterally
what does a CT scan of the chest show with sarcoidosis and what is needed to prove a diagnosis
Raised Serum ACE and CXR – hilar lymphoadenopahthy (enlarged lymph nodes)
Biopsy may prove diagnosis
what is the treatment for sarcoidosis and why
Treatment is steroids - to dampen down the immune system as their own cells attack itself
name 4 body parts that are affected by sarcoidosis
brain, chest, joints, skin
what is Behcets disease and who does it predominantly affect
Idiopathic condition usually affects males from the Silk Route regions e.g. mediterranean, turkey, japan
what anterior ocular sign is seen and what 3 posterior signs are seen with Behcets disease
Bilateral anterior uveitis characterised by mobile hypyon
Posterior signs include – vitritis, retinal vasculitis and retinitis
what 2 types os systemic signs of Behcets disease are there
oral and genital ulcers
skin rashes
what is the treatment for Behcets disease
high dose immunosuppression
what type of patients have Birdshot choroiditis
middle aged usually females
list 4 symptoms of birdshot choroiditis
floaters
blurry vision
night blindness
and
vibratory vision
it is purely an ocular condition
list the 3 signs of birdshot choroiditis
Posterior and intermediate uveitis
macular oedema
Characteristic white lesion radiating from the disc inferiorly nasally at the level of the choroid
what is the diagnostic test and outcome of birdshot choroiditis
Blood test – HLA A29 is positive
what is the treatment of birdshot choroiditis
high dose immunosuppression
what is the management of birdshot choroiditis
electrodiagnostic tests & annual visual fields test
what type of patients have Acute Multifocal Pigment Placoid Epitheliopathy
Young patients who have a viral illness before they have eye symptoms
what 2 ocular symptoms do people with Acute Multifocal Pigment Placoid Epitheliopathy have
Usually bilateral and
develop floaters and scotoma (from the lesions they develop)
what 3 systemic manifestations do patients with Acute Multifocal Pigment Placoid Epitheliopathy develop
GI
joint
neurological
manifestations
what part of the eye does Acute Multifocal Pigment Placoid Epitheliopathy affect and what characteristic does it have
the choriocapillaris of the choroid
and has characteristic FFA changes
what is the treatment for Acute Multifocal Pigment Placoid Epitheliopathy
condition is thought to be self limiting – however steroids are indicated if lesions affect the macular
what condition is this
Progressive Cone Dystrophy
what condition is this
Stargardt’s disease and fundus flavimaculatus
what condition is this
Best disease
what condition is this
Autosomal dominant drusen
what condition is this
Birdshot choroiditis
what condition is this
Acute Multifocal Pigment Placoid Epitheliopathy
