Index
Dominant familial drusen share some characteristics of age-related macular degeneration. Doyne's honeycomb retinal dystrophy (DHRD) and Leventinese disease are two different expressions of an autosomal dominant disease with complete penetrance, but variable expression, caused by mutations in the EFEMP1 gene.
The first ophthalmoscopic description of a familial form of drusen was observed in patients living in the Leventina valley in the southern Ticino canton of Switzerland in the early XNUMXs.
Subsequently it was demonstrated that the histopathological characteristics of Leventinese disease are in fact indistinguishable from those of Doyne's dystrophy and the different radial distribution that drusen assume in families with Leventinese disease was underlined.
The lesions of the Leventinese disease consist of numerous small elongated drusen that radiate inside the vascular arches; as the disease progresses, soft confluent drusen develop in the macular area. Histopathological studies have established that radial deposits are continuous or internal to the basement membrane of the retinal pigment epithelium.
Two types of deposits can be detected in Leventinese disease. The first, more prominent type consists of focal sub-retinal nodular deposits. The second type of deposits appears to be located on the anterior part of the RPE, comparable to the subretinal drusenoid deposits, better known as reticular pseudodrusen (SDD).
Diagnosis
Visual symptoms reported by the patient include dyschromatopsia, photophobia, metamorphopsia and a relative scotoma already present at the age of 30-40 years. Most patients with Leventinese disease are asymptomatic until the second third decade of life, however, a reduction in acuity may sometimes occur in later life. As the disease progresses, most patients present with loss of central vision and absolute scotomas, which are associated with the development of marked changes in the retinal pigment epithelium (EPR) and progression to geographic atrophy ( GA) or choroidal neovascularization (CNV).
The diagnosis of Leventinese disease is made through the examination of the ocular fundus and the execution of specific instrumental tests and is confirmed exclusively by genetic analysis. The instrumental tests, which the patient must undergo, are there Perimetry Computerized, to identify the presence of scotomas in the visual field, the Tomography a Coherence Optical (OCT) at high resolution to analyze every single retinal layer, Autofluorescence (BAF) of the fundus to identify the areas of retinal atrophy already present, Angiography with Fluorescein (FAG) to Verde Indocyanine (ICGA) to highlight any complications including choroidal neovascularization e the Electroretinogram (ERG) to evaluate over time the functional damage in the transmission of the signal at the retinal level.
Treatment
Patients with Leventinese disease who develop choroidal neovascularization are treated with intravitreal injections of Anti-VEGF. For patients who have not yet developed neovascular complications, a research protocol has recently been tested by Prof. Cusumano and his group, which involves the use of the 2RT® laser to try to increase retinal and visual function, improving the visual cycle, as demonstrated with electroretinography, and at the same time slow down the progression of the disease by partially restoring the reduced hydraulic conductivity of the Bruch membrane.
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