[Inherited retinal dystrophies: contributions of molecular genetics].

Abstract excerpt

Inherited retinal dystrophies are Mendelian neurodegenerative conditions. The mutations of the responsible genes lead both to cell dysfunction and cell death in the retina. The majority of these diseases are responsible for a progressive vision loss ending in almost complete blindness. Recent breakthroughs in molecular genetics technologies (microchips, next generation sequencing) resulted in a much better...

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