Inherited choroidal dystrophy

What is it?

This is a heterogeneous group of genetically determined pathologies that affect the choroid, pigment epithelium and retina causing progressive degeneration of these tissues. The symptomatology, as for retinal forms, consists mainly in emeralopia, night blindness and reduced visual field and only in the terminal stages of central visual decline. The most frequent forms are choroidemia (X-linked recessive), atrophy turned choroid (autosomal recessive mutation of ornithine-aminotransferase, the main gene responsible for the degradation of ornithine, resulting in hyperornithinemia) and helical peripapillary choroidopathy.

How is it diagnosed?

The diagnosis, as for retinal forms, consists of an eye examination and instrumental examinations (OCT, electroretinography). Fluorangiography helps to highlight the characteristic involvement of the choroid.

How is it treated?

As with retinal dystrophy, there is no recognized treatment, but it is important to have comprehensive eye exams, screenings at low vision centers, and consultations with a general practitioner/clinical geneticist.

Where do we treat it?

Within the San Donato Group, you can find Inherited choroidal dystrophy specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.