Possible Wrong Diagnosis

Wed, 5 Aug 2015 21:10:16 GMT

I recently did a young patient that was seen by a retina Dr and then referred to a neuro/ hereditary Dr due to peripheral atrophy and some pigmentary changes around the central fovea. The patient was not born premature. They were both thinking it may be cone dystrophy or stardgardt's disease. I performed an angiogram on the patient and the chroroidal fill was late surrounding the optic nerve but not silent like you would see in a typical stardgadt's patient. There was some hyperflourescent leakage around the lower arcade so I decided to do some optos lates to see how far any leakage would extend. The optos revealed extensive peripheral leakage surrounding both of each eyes.

The Dr. sent them home and told them to come back in a year. They also recommended getting some genetic testing for stardgardt's disease.

Not sure if it was a fellow that saw the patient or the Dr themselves but the diagnosis seems a little wrong.

What would you do in this situation? I am thinking of printing out the pictures and speaking to another Dr to see what they think but this would be totally our of bounds for my position as a photographer.

Anyone ever faced with a possible wrong diagnosis and decided to undermine a Dr by speaking to someone else? Or maybe they are correct in their diagnosis and its an atypical presentation of Stardgardt's I don't know.

Wed, 5 Aug 2015 21:29:36 GMT

The definitive answers here would come from Retinal Function Studies. A series of ERG and/VEP combinations. Inherited disorders are tricky. A skilled electrophysiologist and retinal specialist are most likely called for here

Respectively,
Denice Barsness
San Francisco

Wed, 5 Aug 2015 22:29:58 GMT

Thank you Denice for your reply, After some thought I am thinking of just keeping quiet. I am going to try and speak to another Dr. just to see what they think is going on. I am very interested in identification of any eye condition as it will help with performing my job well.

The patient already saw a retina specialist and was referred to another specialist and then sent home.

I was expecting that they would at least treat for the peripheral vascular leakage, but nothing was done.

Wed, 5 Aug 2015 22:35:42 GMT

If the neuro-ophthalmologist ordered the studies, I am sure they are sending a copy along with a report to the referring Retina physician. Your images will be reviewed by them as well.
I agree that electrophysiologic testing would be in order, and I assume the retinal md will order them.
You should keep a file with your unusual images (without patient identifiers). I often have residents who are looking for a good case to present!

Libba Affel

Wed, 5 Aug 2015 22:43:07 GMT

You are in a tough situation, Brandon. Ultimately, as experienced as some imagers may be, we aren't licensed medical doctors. I am lucky to be in an academic institution where we are encouraged to ask questions and participate in patient care. In other settings, that would be frowned upon. There are variants of Stargardt's that do not present with the classic dark choroid.

Denice is correct in that electrophysiology should be an important component of this patient's care.

So maybe you could ask one of these physicians, (with your most wide-eyed innocent look)," what the electrophysiology showed on that interesting patient with the unusual angiographic findings". These physicians may have consulted with other physicians via internet or phone call and you would not be aware of what was said.

If you are absolutely convinced the patient is not receiving good quality care, you could go to your superiors but that is taking a bit of a risk. I think that going to the physicians in question and asking them to inform you about the case and why they made that diagnosis is the best approach.

Just my opinion,
Paula

Fri, 7 Aug 2015 15:55:19 GMT

Brandon,

I am intrigued by the investigative quality in which this thread has taken hold, especially by the most experienced lecturers and imagers of our field. In the likely event, that you hunch holds true, and, you are able to follow this patient through their definitive diagnosis at your Miami clinic, might I suggest a 'Scientific Abstract Submission' would be an interesting way in which you can present these findings to our OPS community in November 2015, at the Las Vegas Annual Program.

For your convenience: I am enclosing it here,

http://www.opsweb.org/?SciSesApSub

Please keep us [Permalink Viewers] posted on your progress !