Doney Honeycomb Retinal Distrophy

PATHOLOGY

It is considered that dominant autosomal radial drusen ??? represent an early manifestation of age-related macular degeneration. There are two forms ???: Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese, with dominant autosomal transmission with complete penetrance, but with variable expressiveness, caused by mutations in the EFEMP1 gene, the first description of the ophthalmoscopic aspect of a form of familiar drusen that was observed in patients who were living in Ticino, the southernmost canton of Switzerland at the beginning of the twenties.

TREATMENT

Patients suffering from Malattia Leventinese who develop choroidal neovascularization are treated with intravitreal injections of anti-VEGF. For those patients who have not yet developed neovascular complications, a research protocol has been recently experimented by Prof. Cusumano that provides for the use of the 2RT® laser for trying to increase retinal and visual functionality, as proved with electroretinography, and slow down at the same time the pathological progression of the pathology improving the hydraulic conductivity of the Bruch membrane and the visual cycle.

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