Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series

The absence of family history does not preclude X-linked inheritance in females with retinal dystrophies. Multimodal imaging such as FAF and red-free photos should be included in the workup. As new therapeutic strategies are developed for CHM and <i>RPGR</i>-associated retinal degeneration, including gene therapy, it may become increasingly more important to diagnose symptomatic carriers, as it has been previously shown that earlier intervention is more effective in IRD populations.