Excerpts of a conversation. What do we diagnose through the eyes?

10/09/2018

We continue with the series of short conversations between an internal medicine doctor and 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)

OPH: Let’s recall the layers of the eye and delve deeper into them. We refer cases of inflammation of the sclera, the external wall of the eye, to you. If I’m not mistaken, two thirds of affected patients do not have any other symptoms. Is that right?

IM: Yes. However, we must stay alert and ask the patient about other possible problems. I remember one patient you referred to me after a flare-up of episcleritis, accompanied by diarrhoea and pain, so we diagnosed him with ulcerative colitis. A third of patients with episcleritis present with other problems.

OPH: If we look at the cornea, we can see the illness expressing itself through an iron build-up: hemochromatosis. This appears around the outer edge. What other problems could give rise to this disease?

IM: Well, liver cirrhosis, heart failure, diabetes, calcium metabolising problems and sometimes dark skin... However, these conditions can be detected during your check-up.

OPH: And atopic dermatitis, some rheumatic diseases and abnormal build-ups, which can all be seen in the cornea.

IM: Plus, hormonal disorders. You sometimes raise the alarm for hypoparathyroidism and kidney failure, for example, inherited metabolic disorders with a build-up of abnormal substances throughout the body and in the cornea. And infections, like herpes, which is the most common.  Or some rarer ones like tuberculosis and syphilis. And if we delve deeper into the anatomy, we get to the iris: Have you ever seen the Kaiser-Fleisher ring? It’s an accumulation of copper due to a metabolic disorder, Wilson’s disease.

OPH: No, I haven’t. But I’m sure you’ve seen it in a few cases.

IM: Just one. A few years ago. We diagnosed a 15 year-old girl who had cirrhosis with this illness, without any apparent cause. I didn’t see the ring around the iris; I asked you about this one because with just one look at the iris, the diagnosis was as clear as day.

Afterwards, I carried out the liver biopsy.

OPH: When the liver is affected, the ring appears in around 50% of the eye. But when the nerve-related symptoms begin, the ring covers almost 100% of the eye. We also observe sarcoidosis nodules and Koeppe and Busacca nodules.

IM: A disease dealt with in Internal Medicine, it can affect the “whole” body and is characteristically indicated by the eyes.

OPH: It may affect the whole eye: the tear glands, sclera, iris and even the eyelid skin. And more internally, it can cause inflammation of the uvea.

IM: And what about the crystalline lens? What can you see in the crystalline lens that would suggest a general illness?

OPH: The most common finding: cataracts. We know the risk factors for age-related development of cataracts: unprotected exposure to the sun, tobacco smoking, diabetes, medication, like corticosteroids. Plus, inhalers used by asthmatics and those affected by tobacco smoking.

IM: You refer cases of accommodation disorders to me. The crystalline lens is a lens whose thickness changes when we want to look at something up close thanks to its elastic properties. This is called accommodation and we lose this ability over the years. The name for this is presbyopia, which is not a disease. However, there are cases where accommodation fails because of an illness, for example, neurological conditions such as involuntary or dysautonomic nervous system disorders, Parkinson’s disease—which is the most well-known—, and it’s characteristic of a side effect of some medications.

OPH: Do you remember the case of your friend’s mother, the one who was depressed?

IM: It was a textbook case. She was so depressed that she didn’t leave the house for months. The whole thing was so slow and gradual. She was clearly depressed.

OPH: At the eye check-up we observed an optic nerve oedema. She had no complaints about her sight, but her family was so worried that they wanted her eyes checked too. This finding led you to request a brain scan which showed a benign tumour, a meningioma covering the front of the brain.

IM: Meningioma grows so slowly that this one had manifested itself in changes to her mood... It was like a lobotomy; it affected her very personality!

OPH: How did this case turn out?

IM: She is fighting fit now. It’s one of the most extreme cases I’ve ever seen. It made me think of the case of a patient in Angola who came for a glaucoma check-up.

OPH: I remember it, he presented with atrophy of both optic nerves, just like a case of advanced glaucoma. Or at least that’s what they had been telling him in his country for years: bilateral papillary atrophy caused by glaucoma.

IM: When you explained the case to me, at first, I didn’t quite understand your concerns: What else should we look for if the glaucoma causes atrophy of the optic nerve and the patient has had glaucoma for years?

OPH: Right, but this patient’s nerve atrophy did not show any cupping of the optic nerve—a characteristic of glaucoma. This made us question the diagnosis. Sure, he had glaucoma, but there was also something else there. The brain scan showed the largest meningioma I’ve ever seen. It had been growing for years and was compressing both optic nerves at the same time because it was that big. That was the reason for the papillary atrophy.