Fundus photograph of a male patient affected by choroideremia shows midperipheral RPE atrophy spreading peripherally with visualization of coursing large choroidal vessels and sparing of the fovea. Fundus autofluorescence demonstrates an hyperautofluorescent stellate preservation of the posterior pole. Spectral-domain OCT scans show diffuse choroidal atrophy and loss of the IS/OS junction, which is intact and preserved at the level of the fovea. The boy’s mother was a genetically confirmed female carrier: her fundus shows mild, patchy peripheral RPE mottling with a striking speckled pattern in FAF.
