Behr syndrome

Behr syndrome (also known as Behr optic atrophy syndrome or infantile optic atrophy syndrome) is a rare inherited neurological disorder characterized by the combination of early-onset bilateral optic atrophy and progressive neurological features. The condition was first described by Carl Behr in 1909 and primarily affects the visual and nervous systems. Behr syndrome has been associated with mutations in the OPA1 gene (which is also implicated in autosomal dominant optic atrophy) as well as mutations in the OPA3 gene, with autosomal recessive inheritance being the classic pattern. The hallmark feature is bilateral optic atrophy leading to significant visual impairment that typically manifests in early childhood. Neurological features include cerebellar ataxia (difficulty with coordination and balance), spasticity (increased muscle tone particularly in the lower limbs), intellectual disability of variable severity, and peripheral neuropathy. Additional features may include nystagmus (involuntary eye movements), urinary incontinence, and posterior column signs. The neurological symptoms tend to be slowly progressive, though the rate of progression varies among affected individuals. There is currently no cure or disease-modifying treatment for Behr syndrome. Management is supportive and multidisciplinary, focusing on visual rehabilitation, physical therapy for spasticity and ataxia, occupational therapy, and educational support for those with intellectual disability. Antispasticity medications may be used to manage increased muscle tone. Regular ophthalmological and neurological follow-up is recommended to monitor disease progression and optimize quality of life.

Common questions about Behr syndrome