Eye signs that point to a systemic disease
- Eye and systemic disease
A ring in the cornea, a dislocated lens or spots in the retina can give away a systemic disease. Recognising them leads to the right test.
What it is
Some eye findings are characteristic of a systemic disease and can be the clue to its diagnosis. They are classic exam questions and useful in practice: a copper ring in the cornea, a white-centred retinal haemorrhage, a dislocated lens, blue sclerae or a cherry-red spot. The table links each sign to its disease and the next test.
Eye findings
- Kayser-Fleischer ring: copper at the corneal edge in Wilson disease.
- Roth spots: white-centred retinal haemorrhages in endocarditis, leukaemia and anaemia.
- Lisch nodules: iris hamartomas in neurofibromatosis type 1.
- Blue sclerae: osteogenesis imperfecta.
- Corneal arcus before 50 or xanthelasma: check lipids.
- Band keratopathy: high calcium or chronic uveitis.
Eye signs and the systemic disease behind them
| Sign | Think of | Next test |
|---|---|---|
| Kayser-Fleischer ring | Wilson disease | Ceruloplasmin, urinary copper |
| Roth spots | Infective endocarditis, leukaemia | Blood cultures, echocardiogram, blood count |
| Lens dislocated up and out | Marfan syndrome | Echocardiogram (aortic root) |
| Lens dislocated down and in | Homocystinuria | Plasma homocysteine |
| Lisch nodules | Neurofibromatosis type 1 | Skin exam, genetics |
| Cherry-red spot in an infant | Lysosomal storage disease | Enzyme tests |
| Lid retraction and lag | Thyroid eye disease | Thyroid tests |
| Argyll Robertson pupils | Neurosyphilis | Treponemal serology, CSF |
Screening and follow-up
- Argyll Robertson pupils are small, irregular and react to near but not to light.
- Angioid streaks (cracks in Bruch membrane) occur in pseudoxanthoma elasticum, Paget disease of bone and sickle cell disease.
- Conjunctival pallor suggests anaemia; scleral icterus, jaundice.
Next step / Initial management
- Kayser-Fleischer ring or unexplained liver disease in a young person: ceruloplasmin and urinary copper, hepatology.
- Roth spots with fever: blood cultures and echocardiogram the same day.
- Dislocated lens without trauma: cardiovascular and metabolic workup and genetics.
- Lisch nodules or café-au-lait spots: neurofibromatosis assessment.
Test yourself
Think of the answer, then tap the question to see it.
What is a Kayser-Fleischer ring and which disease does it suggest?
A brown-green ring of copper at the corneal edge, in Wilson disease.
What are Roth spots?
White-centred retinal haemorrhages seen in infective endocarditis, leukaemia and severe anaemia.
In which direction does the lens dislocate in homocystinuria?
Downwards and inwards (inferonasally).
Connections
Educational content; not a clinical guideline and no substitute for assessment by a health professional. For sudden visual loss, severe eye pain, a chemical burn or an eye injury, go to an emergency department at once.
Sources: Kayser-Fleischer Ring (StatPearls Publishing (NCBI Bookshelf), 2024); Roth Spots (StatPearls Publishing (NCBI Bookshelf), 2025); Ectopia Lentis (StatPearls Publishing (NCBI Bookshelf), 2023); Marfan Syndrome (StatPearls Publishing (NCBI Bookshelf), 2023).
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Representative model, for educational purposes only.