Game 14
set-up
A woman in her mid-teens comes in presenting with a fairly cloudy cornea which has white dots all over the cornea.
You set up a differential diagnosis
- could be adenoviral keratitis
- could be Thygeson's
- could be macular dystrophy
- could be granular dystrophy
- could be very early Theil-Behnke's dystrophy
solve
in
1
You notice that the eye has no neovascularisation, and no hyperemia.
Additionally she does not seem to be complaining about tearing, or photophobia, or itching, or burning, but instead on her deteriorating vision.
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She cannot see at all.
solve
in
2
You do a family history check due to the high potential of dystrophy.
- Her grandmother on her mothers side had a dystrophy
- Her great grandfather on her father's side had a dystrophy
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You do realise that she has been to other optometrists before to get this checked out, but it has gotten worse over the years.
last
chance
You observe her eyes under the slit-lamp and notice the stroma is abnormally thin, and this thinning is not localised to the central or periphery.
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You recommend PKP or DALK, but that is for her to discuss with her parents.
The
answer
Macular Dystrophy
- An autosomal recessive disease affecting 16q22
- Generally painless, and generally more hazy than granular dystrophy
- Involves thinning of stroma
- Has an onset in the 1st decade, and progressively gets worse overtime, only impacting VA and stroma rather than other symptoms
- If stained with, histology will reveal GAGs in the stroma
- Not adenoviral due to the lack of an immune response, and lack of photophobia or tearing
- Not granular due to the haziness and lack of pain
- Not Thygeson's due to the lack of recurrence and lack of pain