Choroideremia
 

Established choroideremia End-stage choroideremia

This is an X-linked inherited condition (rarely other inheritance patterns) affecting both eyes. The majority of the patients  seen will be male.Most cases seen in the examination are either established or end-stage choroideremia. In established cases, there is atrophy of the retinal pigment epithelium and choroid with exposure of the sclera and  large choroidal blood vessels. The condition usually starts in the equator and spread centrally and peripherally. There  are usually pigmentary changes on the fundus giving it a salt and pepper appearance. In advanced cases, the fundus appears 'white-out' with total choroidal atrophy and exposure of the sclera.

Questions:

1. Which conditions apart from choroideremia are characterized by choroidal atrophy?

Answer
inflammatory disorders such as serpiginous choroidopathy and punctate inner choroidopathy.
gyrate atrophy
central areolar sclerosis
generalized choroidal atrophy

2. What is the visual prognosis of choroideremia?

Answer
The symptoms usually begin early in life (in the 10's and 20's) with loss of peripheral visual field and night blindness. However, the central vision is usually retained until the 50's.

3. What fundal changes would you expect  in carrier of choroideremia?

Answer
In the female carrier, the most common sign is pigmentary changes in the mid-periphery. Other signs include patchy degeneration of the  retinal pigment epithelium and choroid and white drusenoid deposits in the mid periphery. Sometimes fine white dots may be seen scattered through the retina.
In some cases, there may be signs similar to established choroideremia in affected males with loss of vision.

 

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