Behr Early Onset Optic Atrophy Syndromes

Background and History: 

This is a syndrome consisting primarily of a weakening of the optic nerves that carry signals from the eyes to the brain.  However, other abnormalities of the nervous system such as unsteadiness, and stiffness of the muscles and mental delay are also commonly seen.  It was first described by a German physician, Carl Behr, in 1909.  The term, Behr Early Onset Optic Atrophy Syndromes, is used to suggest that there are multiple disorders with the same designation.  The precise classification of these awaits further study.

Clinical Correlations: 

The pale appearance of the optic nerve characteristic of optic nerve dysfunction can be seen in infancy.  It is progressive early but somewhat variable in degree and therefore vision varies widely.  This may result in ‘dancing eyes’ (nystagmus).  Many patients also have other neurologic abnormalities primarily involving the motor system with increased muscle tone (spasticity), and unsteadiness (ataxia).  Some patients have variable degrees of mental deficit with sensory defects as well.  Speech is slurred in half of known patients.  These signs generally occur later in childhood and are progressive. Brain scans and nerve biopsies show degenerative changes.  Many patients by the 3rd decade of life are significantly handicapped and unable to walk without assistance. 


This is a rare disorder and found most commonly among individuals .  It is a presumed autosomal recessive disorder as suggested by the occurrence of sibs born to related parents.  Among individuals of Iraqi Jewish ancestry the urine contains unusually high amounts of certain metabolites secondary to an enzyme mutation, leading to speculation that perhaps all such patients have the same recessive gene defect.  It is more likely that this category of optic nerve disease is heterogeneous, that is, it includes multiple clinically similar but distinct genetic disorders.

Diagnosis and Prognosis: 

The diagnosis should be suspected in infants who do not appear to see normally which may be manifest by ‘dancing eyes’, or who do not seem to recognize faces or follow targets well.  Ophthalmologists and neurologists should be consulted.  No treatment is known.

Additional Information
Autosomal recessive