Behr syndrome

Behr syndrome (Behr optic atrophy) is a rare genetically determined congenital disorder primarily affecting nervous tissue and the eyes. The condition is named after the German ophthalmologist Karl Behr. The disease tends to progress over time, and its prognosis is not very favorable.

Causes:
The cause of the disorder is a genetic mutation, specifically involving the OPA1 gene. In the population, there are individuals who carry the gene mutation but are not themselves affected. However, if two such carriers have a child, there is a relatively high chance that the child will inherit the mutated gene from both parents, and such an individual will most likely develop Behr syndrome. This pattern of inheritance is autosomal recessive.

Diagnosis:
The genetic disorder can be identified only through genetic testing.

Treatment:
There is no known causal treatment for the syndrome itself. Management of symptoms falls within the care of neurologists and ophthalmologists.

• porucha nervovej sústavy a zraku
• porucha farebného videnia
• vplyvom degenerácie zrakového nervu sa zrak zhoršuje a objavujú sa slepé miesta v zornom poli, kde človek nič nevidí
• nystagmus – mimovoľné kmitavé pohyby očí
• strabizmus – škúlenie
• ataxia – poruchy koordinácie pohybov, poruchy počas státia a udržania rovnováhy
• dochádza aj k zhoršovaniu funkcie nervov, spojených so zmenami citlivosti, pohyblivosti (niekedy dochádza aj k ochrnutiu končatín) a poruchami reflexov
• spasticita (stuhnutie) svalov
• intelekt býva znížený, prítomná je mentálna retardácia rôzneho stupňa