Choroideremia
Disease
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Choroideremia
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Choroideremia Disease

Choroideremia is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina. Choroideremia, formerly called tapetochoroidal dystrophy, occurs almost exclusively in males. In childhood, night blindness is the most common first symptom. As the disease progresses, there is loss of peripheral or side vision and later a loss of central vision. Progression of the disease continues throughout the individual's life, although both the rate and the degree of visual loss are variable among those affected, even within the same family.

Choroideremia Eye DiseaseChoroideremia Eye Disease
Established ChoroideremiaEnd-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.

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