Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation

PURPOSE: To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. OBSERVATIONS: A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of the ellipsoid and interdigitation zones. Widefield fundus autofluorescence demonstrated nummular hypo-autofluorescence peripherally in both eyes. Genetic testing revealed a variant originally described as a variant of uncertain significance (VUS) a c. 1775_1814del (p.Glu592Valfs*44) identified in the CHM gene, which was reclassified as pathogenic following segregation analysis. The patient was diagnosed with choroideremia due to a CHM pathogenic variant. CONCLUSIONS: The multimodal imaging findings demonstrated here illustrate important clues to the diagnosis of Choroideremia in a simplex male.