Behr's syndrome

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Behr's syndrome (a.k.a. Behr's disease) is a genetic disorder named after Carl Behr, who first described it in 1909. [WhoNamedIt|synd|3048] [cite journal |author=Behr C |title=Die komplizierte, hereditär-familiäre Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomkompleks. |journal=Klinische Monatsblätter für Augenheilkunde, Stuttgart |volume=47 |issue= |pages=138–60 |year=1909]

It is an autosomal recessive disorder, although heterozygotes may still manifest much attenuated symptoms.

Diagnosis

Behr's syndrome results in a spectrum of optic and neurological complications for both sexes. The disorder begins from early childhood with disturbance to vision, and loss or reduction in body control and co-ordination.

It includes a partial and increasing loss of vision, and/or blind spots. Eyesight degeneration is particularly prevalent in males. Symptoms can also include rapid involuntary eye movements (nystagmus), ataxia, progressive damage to nerves, nerve inflammation and unusual foot reflexes when the sole is stimulated (positive Babinski sign).

Genetics

Behr's syndrome is autosomal recessive, which means the defective gene is located on an autosome, and two copies of the gene - one inherited from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder.

ee also

*List of systemic diseases with ocular manifestations

References

External Links

*RareDiseases|849|Behr syndrome