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All NMOSD are classified (according to the leading pathophysiological mechanisms) into diseases with identifiable antibodies against aquaporin 4 AQP4-IgG (NMOSD-AQP4), NMOSD without AQP4-IgG or with unknown AQP4-IgG status and NMOSD with identified antibodies against Myelin Oligodendrocyte Glycoprotein, (NMOSD-MOG)

One study combining NM-MRI with fractional anisotropy measures was able to distinguish between iRBD and control with high diagnostic accuracy 48

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism