Optic nerve appearance question

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eyedocmaggie

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Ok,
This is a case from today, not solved, looking for ideas..

22 yr old caucasian female
PMHX: unremarkable
POHX: unremarkable
Meds: BCP NKEA/NKDA
FMHX: (-) DM, (-) HTN, (-)Cancer, (-)HD, basically unremarkable
FOHX: (-) GLC, (-)AMD, other negative as well
refracts as low hyperopic astigmatism, reading rx.
No subjective complaints , (-)HA, (-)diplopia
Normal weight, no history of HA

Entrance testing;
color vision normal OD,OS
PERRL (-)RAPD
Confrontations full to finger counting OD,OS
All other entrance tests normal
Goldmann Applanation Tonometry
OD 20mmHg
OS 20mmHg

Observation of the optic nerve OD reveals:

c/d .4/.4 irregular, possible sloping temporally
pale temporal rim, with adjacent thin retina (choroidal vessel visible, not a blonde fundus)
rim temporally appears "jagged", not indistinct but jagged.

Observation of the optic nerve OS reveals:

c/d .15/.15 shallow and round.
pink well perfused rim , (-)pallor, distinct borders

basically perfect OS.



I'd normally get a VF and r/o GLC with a ddx of congenital c/d discrepancy, but this one just looks wierd.

I am waiting for the VF results and photos at this time.

I'm thinking that perhaps she may have an unusual presentation of an optic disc coloboma, although it doesnt look like any coloboma i've ever seen, it isnt dramatic. The thing that is throwing me is the thinning next to the rim, and the pallor, and the jaggedness of the rim. I'd draw it but i'm not good with cpu drawing.

ANY IDEAS??

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I'd like to see a VF and color photos of the discs. Also recheck the RAPD. If there is no RAPD, then this is unlikely to be a serious optic nerve problem.

DDx
1) anomalous ON
2) coloboma
3) optic pit
4) C/D asymmetry vs glaucoma suspect... but the patient is very young. Look for signs of pigmentary glaucoma, e.g. Krukenberg spindle.
5) optic atrophy secondary to compressive lesion? This is where the VF and rechecking for a RAPD will be helpful.
 
Thanks Dr. Doan!
Definitely no krukenburgs spindle...
I'm really leaning toward coloboma,it is unlikely that it is an optic pit, doesnt really look like one, and is fairly shallow.
Her pupils were 4+ reactive, and absolutely showed no sign of an APD, thats why this is soooooo strange. I'll tell you what the VF says as soon as I get it back.
 
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1. Gonioscopy for the position of the iris or possible pigmentation of the trabecular meshwork even without Kruckenberg

2. Photostress test to check the "speed" of nerve fiber layer. Differentially.

3. Look for blue-yellow deficits on an appropriate color vision test (such as Farnsworth)

Richard_hom
 
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