a. What is the diagnosis?

b. How is this condition inherited?

c. What ocular signs may be present?
 

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This is the blood film of a patient with anaemia.

a. What is the diagnosis?

Sickle cell anaemia (Hb SS).

b. How is this condition inherited?

Autosomal recessive inheritance.
There is substitution of valine for glutamine in the 6th position on the beta chains of the haemoglobin molecules.

c. What ocular signs may be present?

The following signs are specific to patient with sickle cell anaemia.

Anterior segment:

• comma-shaped conjunctival vessels

Posterior segment:

• proliferative changes

- sea-fan lesions in the peripheral retina
- vitreous haemorrhage
- salmon patches (results from intraretinal and subretinal haemorrhages)
- black sun bursts (commonly follows salmon patch and results from RPE hyperplasia)
- tractional retinal detachment
 
• non-proliferative changes 

- angioid streaks
- macular ischaemia
- central retinal artery and vein occlusion
- rhegmatogenous retinal detachment

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