BLOG: Retinal findings can herald systemic conditions
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Roth and Roth-like spots are white-centered retinal hemorrhages that are round, oval or flame-shaped and can be seen in conjunction with a wide variety of systemic conditions.
They are known to be possible indicators of an underlying disease process such as leukemia, anemia, preeclampsia, diabetic retinopathy, hypertension and anoxia. The commonality among these conditions involves vascular endothelium. Patients who have recovered from COVID-19 infection may develop endothelial disorders, and attention is turning to this difficult-to-diagnose problem.
When Roth spots are noted on an eye exam, it should prompt a detailed and systemic evaluation, including consideration that the vascular endothelial problems could be due to COVID-19 infection. Roth spots are always abnormal.
David Callanan, MD, a retinal specialist at Texas Retina Associates, and I recently published a case study that describes what we believe to be the first reported case of a white-centered hemorrhage in an adult with nonepileptic seizures as a result of vitamin B6 (pyridoxine) deficiency. These spots are seen in infants with intractable seizures secondary to the vitamin deficiency and result from genetic mutations of the ALDH7A1 gene.
A patient with ‘more than 200 symptoms’
A patient named CeCe is a woman in her early 20s who developed postural orthostatic tachycardia syndrome or POTS, a form of autonomic nervous system failure. She suffered from daily pseudoseizures — often for 2 to 3 hours a day — despite a normal electroencephalogram. She also had symptoms that involved her entire body: the autonomic, central and peripheral nervous systems. No specialist had been able to provide her with relief from her condition, and she was told to try to live this way (and she did for more than 3 years).
She came to see my team at POTS Care to locate and treat the cause of her autonomic dysfunction. We assessed more than 200 symptoms as well as her brain MRI, ocular images and blood work. As a former patient, I have some insight into what it feels like when some things begin to deteriorate, so I spent a lot of time listening and watching. Her symptoms reminded me of a time in my illness when several bizarre neurological symptoms began.
CeCe had numerous symptoms of nutrient deficiencies, which are common in POTS and something that caused many aspects of my own condition, including hallucinations. Interestingly, I found a tiny Roth spot in her ocular fundus — something I almost missed — and I proceeded to consider every possibility.
She had episodes of angular cheilitis and seborrheic dermatitis, which can be symptoms of vitamin B6 deficiency, an extraordinarily rare occurrence in the U.S. I wondered whether there was any way her deficiency could be so bad that it would exhibit much like infants with genetic pyridoxine deficiency, who develop pseudoseizures and Roth spots. I searched the literature and found no published cases of this in an adult. But I believed I was right, and despite all the specialists saying her pseudoseizures were “psychogenic,” we began treatment immediately.
I gave CeCe a double daily dose of pyridoxal-5-phosphate, a form of vitamin B6, and the pseudoseizures stopped in 2 days. The Roth spot was gone in 4 days. I then had to figure out why she was so deficient in vitamin B6, what was driving the POTS and how we could get her back to some semblance of a life.
Months later, my son and I attended CeCe’s wedding and watched as she was able to stand for hours and dance the night away. She now has graduated from college and just got a master’s degree. I am so proud of her for achieving so much when she was faced with these incredible obstacles, and I am delighted that I could help her achieve her goals.
ECPs identify clues to systemic illness
When a patient's underlying problems are identified, they can be adequately managed. Yet too often the current treatment for many “invisible illnesses,” including POTS, is to cover up the symptoms — a tragic error. My children and I could never have recovered from POTS without a dramatic departure from traditional evaluation and treatment, what I have come to call the Driscoll Approach. This approach always includes looking closely into the eyes. Eye care providers are in the unique position of identifying clues to systemic illness, and we should not be overlooked as valuable team members in these patient evaluations.
Today at POTS Care, we see that approximately 10% to 30% of post-COVID patients are developing POTS. I see them go through the same frustrating journey as they continue to get worse. My life is dedicated to helping these patients and, importantly, standing up to the status quo and pushing for dramatic — and perhaps disruptive — innovation that can allow patients to get their lives back.
References:
- Driscoll D, et al. J Vitreoretin Dis. 2021;doi:10.1177/24741264211028788.
- Ling R, et al. Postgrad Med J. 1998;doi:10.1136/pgmj.74.876.581.
- Litten M. Charité Ann. 1878;3:135.
- Loughrey PB, et al. QJM. 2015;doi:10.1093/qjmed/hcv055.
- Mills PB, et al. Brain. 2010;doi:10.1093/brain/awq143.
- Roth M. DeutschA Chir. 1872;1:471-84.
- Sabrane I, al. J Fr Ophtalmol. 2018;doi:10.1016/j.jfo.2018.02.017.
- cisowicz A, et al. Pol Merkur Lekarski. 2018;45(269):198-200.
- Wang L, et al. J Pediatr. 2019;doi:10.1016/j.jpeds.2018.12.054.
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