Achromatopsia

PATHOLOGY

The cone dystrophies comprise a heterogeneous group of disturbances characterized by the loss of the central vision, anomalies of the colour vision, central scotomas and a variable degree of nystagmus and photophobia. There are two principal sub-types of cone dystrophy, referred to as stationary dystrophy and progressive dystrophy. The stationary cone dystrophy is usually present during childhood and early childhood. The symptoms usually remain the same throughout one’s life and the patients maintain a normal function of the rods. In the progressive cone dystrophy, the onset usually is during childhood or in the first half of adulthood and the patients often develop dysfunctions of the rods with associated symptoms that worsen over time.

TREATMENT

No treatments are available today for patients suffering from this pathology, however, several clinical trials are currently under way aimed at developing gene therapies for hindering or stabilizing the pathology.

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