Autosomal Dominant Optic Atrophy

PATHOLOGY

Atrofia ottica autosomica dominante

The Autsomal Dominant Optic Atrophy (ADOA) is a rare genetic mitochondrial disease, (with dominant autosomal recessive transmission or X-linked). This pathology causes the progressive loss of a particular type of retinal cells, the ganglion cells, which are responsible for the transmission of the electric impulses generated by photoreceptors (cones and rods), stimulated by luminous radiation, up to area of the brain destined to the processing and reconstruction of images. All this entails a progressive loss of the central vision and can reach full blindness.   This pathology starts between the first and second decade of life (10-20 years) and has incomplete penetrance, i.e. within the same family it can appear with different degrees of gravity.

 

TREATMENT

Atrofia ottica autosomica dominante

Up to today’s date only nutritional supplements such as B12, Vitamin C and luthein were prescribed for reducing the oxidative stress, i.e. the cellular stress induced by reactive species of the oxygen of the optic nerve, which lead to the cellular death.

Lately, the therapy with IDEBENONE, a synthetic analogous of the Q10 co-enzyme was evaluated with encouraging results. Recently the positive results obtained in laboratory with the gene therapy, transmitted by viral promoters, lead us to assume that in a short time a clinical trial will be started aimed at confirming the possibility to control or reduce the progression of this serious eye pathology.

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