Choroideremia (CHM) is a rare inherited disorder whose symptoms mirror a more commonly diagnosed condition called retinitis pigmentosa (RP).
Up to 70% of individuals with choroideremia are initially diagnosed with RP. Presentation of symptoms, as well as ERG and OCT findings for the diseases are similar.
The only way to know with 100% certainty which condition your patient has is through free genetic testing.
Although there are currently no cures for either RP or CHM, once the cause of vision loss is known, promising clinical trial options may be available for patients with either condition which could potentially slow progression or preserve remaining eyesight.
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