ABSTRACT Choroideremia is a rare X-linked chorioretinal dystrophy that may closely resemble retinitis pigmentosa (RP) in its early stages. We describe two brothers who were initially diagnosed with RP and later found to have choroideremia after multimodal imaging and genetic testing. The proband, a 49-year-old man, presented with progressive visual loss, diffuse chorioretinal atrophy, and bone spicule pigmentation. His 51-year-old brother had advanced disease with no light perception. Both displayed fundus autofluorescence and OCT findings typical of choroideremia. A hemizygous […]
