Absent retinal pigment epithelium

What it means

Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent.

Absence of the retinal pigment epithelium occurs in a number of monogenic disorders, such as choroideremia, gyrate atrophy, and Bietti chorioretinal dystrophy.

Rare diseases that can present with this3

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category