Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients

Purpose To confirm whether choroideremia (CHM) is a systemic disease characterized by blood lipid abnormalities and crystals found in, or associated with, circulating peripheral blood cells of patients. Methods Peripheral blood samples obtained from three subjects with confirmed mutations in the CHM gene and three age-matched normal controls were processed for transmission electron microscopy (TEM) and scanning electron microscopy (SEM). Fatty acids from plasma of nine male CHM subjects were analyzed and compared to reference values for a sample from a Canadian population. Results Intracellular crystals were not observed in the cells from choroideremia-affected males. No crystals were found adherent to the external plasma membrane of red blood cells. Fatty acid profiles of patients were similar to reference values, with the exception of lower levels of nervonic acid. Conclusions This investigation failed to observe crystals previously reported in peripheral circulating blood cells derived from CHM subjects, and showed no significant fatty acid abnormalities, not supporting the view of CHM as a systemic disease.