Choroideremia

PATHOLOGY

Choroideremia (CHM)) is a rare, X-linked recessive form of hereditary chorioretinal dystrophy that affects roughly 1 in 50,000 males. It is characterized by the progressive degeneration of the retinal pigment epithelium (RPE) and of its photoreceptors, which makes the choroidal blood vessels visible. The lesions initially focal located in the retinal periphery with the advancing of the pathology have a tendency to flow and progress towards the center spreading throughout the retina. The macular region remains preserved up to the last stages of the pathology enabling an easy clinical instrumental diagnosis and completely preserving the central visual quality of the patient even though tubular.

TREATMENT

Up to today’s date no therapy exists that is being used for this pathology, but different therapeutic approaches are being experimented. Of these, the one that seems to be the most promising, even though it is still in the approval stage, is the gene therapy. It sets itself the objective of interrupting the degenerative process of the pathology intervening with the intraocular administration of an adeno-associated viral vector (AVV) specifically rAAV2.REP1 which permits the encoding of the failing protein in the originally pathological retinal cells.

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