Medical Ophthalmology: Case eight


This 50 year-old woman had a long-standing history of iron deficiency anaemia.

a. What is the most likely diagnosis?

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendau's syndrome).

The picture shows telangiectatic vessels of the tarsal and bulbar conjunctiva.
This is an autosomal dominant (abnormality in chromosome 9q) disorder characterized by dilatation of capillaries and small arterioles in the mucous membrane and the skin. In the eyes, the same changes can be observed in the conjunctiva more commonly in the bulbar conjunctiva.

b. What are the causes of her anaemia?

Recurrent epistaxis and chronic gastrointestinal bleeding are the main causes of iron deficiency anaemia.
c. What is the differential diagnosis of this ocular appearance?
Apart from hereditary haemorrhagic telangiectasia, conjunctival telangiectasia can occur in:
  • diabetes mellitus
  • Fabry's disease
  • Sturge-Weber's syndrome
  • Louis-bar syndrome (ataxia telangiectasia)
  • multiple myeloma
  • sickle cell anaemia
  • polycythemia rubra vera
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