This syndrome was first described by Carl Behr, a German ophthalmologist, in 1909. Today his name is attached to early-onset atrophy (degeneration) of the optic nerves that connect the eye to the brain. Optic atrophy may occur as an isolated condition or more commonly in the presence of other neurologic disorders. This category of disease (optic atrophy) consists of numerous conditions that have overlapping signs and symptoms. Currently the diagnostic criteria are often not sufficiently specific to accurately distinguish between these conditions without determination of the exact mutation.
Evidence of optic nerve atrophy is commonly seen in infancy although its actual time of onset is uncertain. This results in defective transmission of light signals from the retina to the brain, and as a result vision is decreased, sometimes severely. Color perception can be decreased as well.
Most patients have evidence of more widespread neurologic disease with unsteadiness, gait difficulties, sensory deficits, and cognitive impairments. Hearing loss is variable.
Two mutations in a pair of specific genes are responsible for this autosomal recessive condition. Parents who have a single mutation in the gene are generally clinically normal but some have been described with mild neurological disease. If both parents have a single mutation, each of their children have a 25% chance of inheriting this optic atrophy.
Examination by an ophthalmologist is necessary to detect optic atrophy. Often this is not done in the newborn period so that diagnosis may not be made until children are older and visual symptoms call attention to the need for an eye examination. Regardless of age at diagnosis, complete neurological and psychomotor examinations are required to determine the full spectrum of clinical disease. Patients require lifelong clinical monitoring.
Nothing is known regarding longevity. Some patients may not be able to ambulate without assistance and are often wheelchair-bound from midlife primarily due to generalized neurological disease. No treatment is available but some patients might benefit from physical therapy and special education, as well as low vision and hearing aids.