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Ocular manifestations of systemic disease
The eye is a window on general disease: a single finding in the fundus, cornea or lens can point to malignant hypertension, endocarditis, a genetic disease or a storage disease — so the exam presents "ocular finding → systemic disease" and expects recognition and the next step.
Why it matters in the exam
Hypertension: arteriolar narrowing and "nicking" at crossings (AV nicking) in the chronic stage; haemorrhages, cotton-wool spots and microaneurysms in the intermediate stage; and disc swelling with a macular star of exudates in malignant hypertension — an emergency. Pre-eclampsia: serous retinal detachment and cortical blindness from PRES. Blood: Roth spots (haemorrhage with a white centre) in endocarditis, leukaemia and severe anaemia; Terson — vitreous haemorrhage with subarachnoid haemorrhage; Purtscher — cotton-wool spots after chest trauma or in pancreatitis; and in an infant — numerous haemorrhages in all retinal layers raise suspicion of abuse (abusive head trauma).
Genetics and metabolism: Marfan syndrome — lens displacement upwards and outwards (FBN1); homocystinuria — displacement downwards and inwards with a risk of thrombosis; Wilson disease — a Kayser-Fleischer ring of copper in Descemet membrane and a "sunflower" cataract; Fabry disease — vortex keratopathy; Tay-Sachs — a cherry-red spot in an infant. Phakomatoses: NF1 — Lisch nodules on the iris, optic pathway glioma and a plexiform neurofibroma of the lid; tuberous sclerosis — retinal astrocytic hamartoma; von Hippel-Lindau — retinal haemangioblastoma; Sturge-Weber — glaucoma and choroidal haemangioma.
Inflammation and infection: sarcoidosis — granulomatous uveitis, "candle-wax drippings" along veins, conjunctival nodules convenient for biopsy; Kawasaki disease — bilateral non-exudative conjunctivitis with limbal sparing; Stevens-Johnson syndrome — conjunctival scarring and severe dry eye; HIV — cotton-wool spots (microvasculopathy) and CMV retinitis; syphilis — "the great imitator", any type of uveitis. Diabetes and thyroid disease are covered separately. Sickle cell — HbSC causes more proliferative retinopathy ("sea fan") than HbSS; with blood in the anterior chamber in patients and carriers the threshold for dangerous pressure is lower, and acetazolamide is avoided.
Key points
- Malignant hypertension: disc swelling and macular star.
- Roth spots: endocarditis, leukaemia, anaemia.
- Marfan up; homocystinuria down.
- Kayser-Fleischer: Wilson; Lisch: NF1.
- Multilayered haemorrhages in an infant: abuse.
Summary table
| Ocular finding | Systemic disease | Next step |
|---|---|---|
| Disc swelling and macular star | Malignant hypertension | Urgent controlled blood pressure lowering |
| Roth spots | Endocarditis, leukaemia | Blood cultures, echocardiography, blood count |
| Lens displaced up and out | Marfan syndrome | Echocardiography for the aorta |
| Kayser-Fleischer ring | Wilson disease | Copper, caeruloplasmin |
| Lisch nodules | NF1 | MRI for optic pathway glioma in a child |
| Multilayered haemorrhages in an infant | Abuse | Report, imaging, skeletal survey |
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Sources
- AAO Basic and Clinical Science Course, Section 12: Retina and Vitreous, 2024-2025 — Hypertensive, haematological and systemic retinal disease
- AAO Basic and Clinical Science Course, Section 6: Pediatric Ophthalmology and Strabismus, 2024-2025 — Ocular manifestations of systemic disease and phakomatoses
- Kanski's Clinical Ophthalmology, 9th edition (2020) — Systemic diseases and the eye
Sources are given for further reading; the text is written afresh and not copied from them.
Reviewed by the Examqo AI Professor · 2026-11-06. The text may contain errors; when in doubt, check the source.