What conditions can we diagnose through the eyes? Systemic diseases

22/01/2019

We conclude the series of short conversations between an internal medicine doctor and  an ophthalmologist. A dialogue in which we aim to stress the importance of the cause and effect relations that very often exist between common general diseases or infections affecting the body and the eyes.

Dr. Rey (Internal Medicine IM)

Dr. Borja Salvador (Ophthalmologist OPH)

• IM: After your consultations, you also refer to me patients with other optic nerve diseases: suspected genetic atrophy conditions, optic nerve oedema, which may be inflammatory or due to a lack of blood flow to the nerve, etc.
• OPH: That’s because we are conducting increasingly more genetic studies, aren't we?
• IM: Well, this is the 21st century! Diagnosis isn't just clinical; it’s genetic too! It isn’t only what I looks like when I first see it, but it involves the mutations of this disease. And watch out for surprises: I told you about the 21-year old patient with atrophy of both optic nerves, who was diagnosed with incurable, genetic atrophy.
• OPH: I remember that case... Weren't there any other pathologies?
• IM: Epilepsy from childhood, and she'd developed a coordination impairment, the origin of which was unknown. When the vision impairment was discovered, she underwent many tests.
• OPH: We offered her a genetic study.
• IM: That was because it made us think of different degenerative and genetic pathologies which would explain all the symptoms. And the discovery was a surprise: a deficiency in biotinidase, an enzyme that was preventing her from producing a vital substance: biotin. But it was such a mild deficiency that it didn’t show up immediately, but rather gradually throughout her life. It is treated by taking a single biotin tablet every day.
• OPH: We also refer cases of acute loss of vision plus optic nerve swelling: papillitis. To differentiate the rheumatic cause from the non-rheumatic cause: the lack of blood flow to the nerve. And these cases are a medical emergency.
• IM: Horton's disease. We must make sure that the papillitis is not due to a rheumatic disease, Horton's arteritis, which would make it necessary to initiate intravenous cortisone. We’ve done it many times, it must be treated quickly to save the eye that has not yet been affected. And to distinguish the rheumatic disease, an overall medical assessment is required: to see if there is a loss of weight and appetite, headache, muscle and bone pain, if the jaw is getting tired, if the superficial temporal artery is thickening, if the neck arteries are starting to overlap... Apart from the symptoms, an emergency test is required. But it’s your department that must flag up the appearance of a swollen nerve. I remember a 58-year-old who couldn't bend over at work for 2 months because her feet hurt, and she would no longer bring a sandwich with her because chewing the bread was difficult. And then suddenly, she lost the vision in one eye, and that’s when she went to the doctor.
• OPH: In the back of the eye you see all the consequences of other metabolic and cardiovascular diseases. After the eye test, we use this method to detect cases of patients who probably have high blood pressure, diabetes, high cholesterol, sleep apnoea, etc.
• IM: It’s true that we often diagnose these disorders after an eye test. The retina is a faithful reflection of the health of the body’s blood vessels, and vision is so accessible in real time.
• OPH: That includes the cholesterol crystal emboli, which behave like a stroke: a retinal infarction. Look to see if the vessels can be seen directly in the eye. Remember when I showed you a cholesterol embolus blocking an arterial branch in the eye...
• IM: I remember it, it was a real one-off, I could see an embolism in-situ!! It often leads you to diagnose a patient with further cardiovascular problems: I remember a case of a patient who, as a result of this arterial embolism phenomenon, ended up being diagnosed with a complete thrombosis of one of the two carotid arteries, the main arteries of the neck.
• OPH: We also send you cases of deep vein thrombosis in elderly people due to high blood pressure, diabetes, etc., but also in young people because of coagulation system disorders.
• IM: Since I’ve been working in such direct contact with you, we’ve diagnosed and treated young patients with antiphospholipid syndrome: a rheumatic disease first described 25 years ago, which causes arterial and venous thromboses. However, uveitis is one of the most frequent differential diagnoses you ask my opinion on. Inflammation of the uvea, from the simplest of the anterior segment—very often due to a virus or rheumatism—to the most common cases of toxoplasmosis infections in the retina...
• OPH: I remember the case of a 25-year-old girl who had been unwell for 2 months. It started off as hives.
• IM: Subsequently, she ran a fever and came to our ophthalmology centre due to a loss of vision.
• OPH: In addition, she’d gone to see her gynaecologist because she had a very painful genital ulcer.
• IM: The gynaecologist had diagnosed her with an isolated genital ulcer.
• OPH: She was presenting with swollen eyes, posterior and bilateral uveitis, and inflammation of the blood vessels: vasculitis.
• IM: Making a diagnosis at the end of the disease’s evolution is the most straightforward approach, she had it all: a rash, fever, a genital lesion, and finally retinal vasculitis: that’s Behçet's disease. Autoimmune, general, it can show up in the eyes. The key to diagnosing it was the retinal vasculitis.
• OPH: What a good case that was. I remember your department made a poster for a conference.
• IM: Plus, we’ve also treated various cases of uveo-meningeal fever, Vogt-Koyanagi-Harada disease. Another kind of posterior uveitis, but it's a general disease that characteristically presents with eye disorders. And we’ve also seen various cases of infections: herpes simplex and chickenpox, toxoplasmosis, and more rarely ocular tuberculosis, and other infections.
• OPH: One of the biggest problems with making a diagnosis in the eye is the difficulty in taking a sample. Our assessment is fundamental in these cases, which is why having people with experience in assessing uveitis is so important.
• IM: I could go on...