Inherited Retinal Disease

Insights into Retinitis Pigmentosa: A Case Study with Maria Sampalis, OD

Posted on

Maria Sampalis, OD:

Hi everyone. I’m Dr. Maria Sampalis. I am an optometrist in Rhode Island. So I had this patient come in for a routine eye exam a couple of weeks ago. The patient came in, again, routine eye exam. It was a 35-year-old female, and there were no symptoms. The patient came in, just wanted to get new glasses. So this is a great clinical case for a lot of practitioners to really take a look at the retina and understand the diagnostic findings.

Usually patients that have retinitis pigmentosa present with night vision problems, and it’s hard to adjust at night to seeing well, and it’s progressive peripheral vision loss or tunnel vision at the late stage. And it’s a rare condition. It’s one in 200,000 patients every year. But this patient presented with no complaints during time of visit, with no family history, no knowledge of it.

So she was the first person in her family to have this so it was an early catch on my part. On the examination, the patient best corrected VA in the right eye was 20/25, and the left eye 20/25, minus two. And then I took a dilated eye exam, initially, retinal photos central, I didn’t notice any. And then on dilation, I noticed pigment lesions in the periphery, mid-peripheral fundus, and then really paid attention to what diagnosis of retinitis pigmentosa would be.

So I, after that, noticed arterial attenuation, noticed the wax, a little bit of waxy polars, those things you can really overlook without any complaints or maybe just quickly looking at the fundus. For me, also, it was looking at the lens and there were some vacuoles, there were some changes that can lead to a posterior subcapsular carotid in the future. And then upon examination, I wanted to run an OCT just to really define the disease.

She had cystoid macular edema, and the OCT found that. So it was a great triad of issues being able to use to make the diagnosis. A lot of doctors are going to do retinal photography and OCT to monitor, but other things is visual fields. That’s a great way to monitor any peripheral loss over time. An ERG is a great way to measure rods and cones with light stimulus, which has been… for a lot of practitioners have that.

But in this case, original diagnosis though it was retinal photography and the periphery and OCT macula. Retinitis pigmentosa is a rare disease. There really isn’t one treatment for it. There isn’t really any treatment for it right now. Right now it’s lutein and a high dose of vitamin A. So it’s just consulting with the patient, answering their questions, but having them follow up with a retina specialist to see what else they can do, maybe do some genetic testing as well.

I know there’s a lot of research out there right now to do that, to see what the new latest treatments would be, but right now they’re all very experimental. I didn’t get the follow-up yet from the ophthalmologist, but maybe the ophthalmologist did a fluorescein angio as well so it can detect early deterioration of retinal pigment, epithelial disease as well. And also how the cystoid macular lesion will change over time.

We’ll put the patient on vitamin A and lutein at this point, and we just let them know that there are some experimental things out there but the patient right now is just doing follow-up visits. And as new things come about that we know, I’ll update the patient because the patient’s fairly young, unfortunately she was 35 years old.

So it’s very important for patients to have dilated routine eye exams. I think it’s very important for patients to see their optometrist or ophthalmologist for a dilated eye exam and take their health seriously and try not to get online eye exams because it’s something like this where it’s routine and you just feel like you just need a new prescription. But made a very rewarding diagnosis on my part, early catch. So maybe that could help her and her lifestyle decisions over the next 20, 30 years.