Case #11 (04-01-2004)

[Andrew_Doan]

CC: 30 y.o. woman referred for bilateral macular lesions.

HPI: 30 y.o. woman was found to have bilateral macular lesions on routine examination. She has no visual complaints. She denies any history of "night blindness", and her family history is negative for eye diseases.

PMH: healthy .

FH: non-contributory.

EXAM

* Best corrected visual acuities: 20/25 OU
* Color Vision: normal
* Pupils: normal, no RAPD
* VF: full to CF OU
* EOM: normal
* IOP: normal OU
* SLE: normal
* DFE: see below

Right Eye

Left Eye

Feel free to discuss the following:

What tests should you order (I'll post labs when asked for them)?

What's the differential diagnosis?

What's the diagnosis?

What is the treatment of choice, surgically and/or medically?

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[Kalel]

Sigh, you opthalmologists and your pictures. Anyways, based on the pictures and the history, my differential includes Cat Scratch Disease (no other sx), a macular hole (patient is a bit young), punctate inner choirdopathy, or introocular histoplasmosis, with the last 2 being highest on my differential. Anyways, I would order a fluorescein angiography and a chest x-ray to look for histo. Labs I would order include CBC, alk phos, serology and complement fixing ab to histo, and blood and sputum cultures looking for histo.

 

[Redhawk]

FA, EOG, ERG?

Foveomacular vitelliform dystrophy, adult type?

 

[Andrew_Doan]

Originally posted by Kalel
my differential includes Cat Scratch Disease (no other sx), a macular hole (patient is a bit young), punctate inner choirdopathy, or introocular histoplasmosis, with the last 2 being highest on my differential.

- Cat Scratch Disease (Leber's idiopathic stellate neuroretinitis)
Typically you see disc swelling and macular star figure. Vision is decreased or horrible.

-Punctate inner choroidopathy
You see this in young myopic women, but they come in complaining of flashers and decreased vision. Fundus exam consists of small round lesions in the retina (100-300 microns, a retinal vein is about 150 microms in diameter) that may coalesce to form a serous retinal detachment. FA helps because these lesions stain.

-POHS (presumed ocular histoplasmosis syndrome)
CNVM that form in POHS in the macula will be symptomatic (if this was a POHS patient, then she would only count fingers, not 20/25).
In POHS, we typically see punched out lesions in the periphery, peripapillary atrophy, and +/- CNVM.

-Macular hole
These holes are smaller than the lesions seen and patients are symptomatic because they occur in the center of the macula.

Originally posted by Redhawk
FA, EOG, ERG?

Foveomacular vitelliform dystrophy, adult type?

What would you look for on FA, EOG, and ERG? What's the differential for a vitelliform lesion in the macula?

 

[Redhawk]

Vitelliform lesion:
Vitelliform dystrophy (Best's Disease)
Adult foveomacular vitelliform dystrophy
Central serous retinopathy with fibrinous exudate
Pigment epithelial detachment
Coalescence of basal laminar drusen
Solar retinopathy

http://www.emedicine.com/oph/topic700.htm
Best disease, also termed vitelliform macular dystrophy, is an autosomal dominant disorder which classically presents in childhood with the striking appearance of a yellow or orange yolklike lesion in the macula. Even with the egg-yolk appearance, visual acuity is maintained in 20/20 to 20/50 range for many years. FA reveals blockage of choroidal fluorescence by the vitelliform lesion. The Electro-oculogram (EOG), which reflects RPE function, is the most diagnostic test for evaluating vitelliform macular dystrophy and is very useful for distinguishing this diagnosis from its differential. The EOG usually is normal in adult foveomacular dystrophy.The full-field electroretinogram (ERG) is normal in this condition. The abnormality is in the RPE, as noted on histopathology and electrophysiology testing.

At first I disregarded Best's as a possibility because I thought it essentially always caused significant decline in VA in the children affected. That doesn't appear to be the case. Also, with her negative family hx, I thought it couldn't be possible as this is an AD disease, but it turns out to be variably penetrant.


Adult vitelliform macular dystrophy resembles Best disease, but it can be differentiated by its later age of onset (4th to 6th decade), smaller lesion, and normal EOG.

 

[Andrew_Doan]

discussion is posted here:

http://webeye.ophth.uiowa.edu/eyeforum/case11.htm