Index
Atrophy Optical Autosomal Dominant (ADOA) is a rare genetic mitochondrial disease (inherited from autosomal dominant, autosomal recessive 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 electrical impulse originated by the photoreceptors (cones and rods), stimulated by light radiation, up to the brain area responsible for processing and image reconstruction. All this involves a progressive loss of central vision up to almost total blindness. This pathology begins between the first and second decade of life (10-20 years) and has an incomplete penetrance, or even within the same family it can manifest itself with different levels of severity.
Symptoms
The main symptoms of this pathology are the loss of sharp central vision, even if this occurs very slowly, an alteration of the perception of colors and a bilateral almost symmetrical reduction of the peripheral visual field.
Diagnosis
Patients suffering from autosomal dominant optic atrophy must undergo a thorough eye examination with instrumental diagnostic tests such as Computerized Perimetry to analyze the sensitivity of the entire retina and identify the residual peripheral visual field, the test with Ishihara tables to verify that it is not there are alterations in the chromatic sense (altered perception of colors), high resolution Optical Coherence Tomography (OCT) to analyze all retinal layers. At the same time, patients affected by it must objectively monitor the loss of function of retinal cells, in particular of ganglion cells and the optic nerve, by performing an Electroretinogram (ERG) and Visual Evoked Potentials ( PEV).
Treatment
Until now, only nutritional supplements such as vitamin B12, vitamin C and lutein were prescribed to reduce oxidative stress, i.e. cellular stress induced by reactive oxygen species in the optic nerve that lead to cell death. Lately, therapy with IDEBENONE, a synthetic analogue of coenzyme Q10, has been evaluated with encouraging results. Recently, the positive results obtained in the laboratory through gene therapy, conveyed by viral promoters, suggest that a clinical trial will be started in a short time aimed at confirming the possibility of controlling or reducing the progression of this serious ocular disease.
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