Unit 6 - other retinopathies Flashcards
Which is more common type 1 or type mac tel?
Type 2
What is the pathogenesis of mac tel?
Postmortem histopathology show Muller cell loss.
What is the disease progression in foveo-macula vitelliform degeneration?
yellow material fades and GA develops
CNVM may develop (rarely)
photoreceptor loss may predispose patient to a macula hole
Is type 2 mac tel bilateral or unilateral?
Bilateral
What percentage of the over 40 population is affected by mac tel?
0.1%
What is the differential diagnosis in foveo-macula vitelliform degeneration?
Best’s disease - lesions appear earlier in life and are smaller
AMD - lesions appear later and are less discrete that in AFMVD
What are the clinical signs of foveo-macula vitelliform degeneration?
Pigment
Round, yellow discrete lesions in or near macula
In autosomal dominant dystrophies what % of children will be affected?
50% but with difference in severity
Male = female
Does not skip a generation
What ocular investigations should be conducted in foveo-macula vitelliform degeneration?
Photography
OCT
FFA, may show hyper-fluorescent staining with a corona sign possible present.
What is the pathogenesis of foveo-macula vitelliform degeneration?
Don’t know
What are the symptoms of foveo-macula vitelliform degeneration?
None or mild reading difficulties
In autosomal recessive what % of children will be affected?
25% if both parents carriers
Male = female
e.g. Stargardt’s
What % chance does a female carrier of an X-linked disease have an having affected children?
50% risk of a son be affected
50% risk of daughter being a carrier
What is the prognosis in foveo-macula vitelliform degeneration?
Generally good but can cause significant visual loss
What are the clinical signs of type 1 mac tel?
Copious hard exudates
V/a approximately 6/12
1-2 disc diameter of telangiectasis temporal to fovea