Malattia Leventinese: A Non-Age-Related Macular Degeneration

Abstract

Malattia Leventinese, also known as Doyne honeycomb retinal dystrophy, was first described in patients living in the Leventine Valley in Canton Ticino of southern Switzerland in 1925. It is an hereditary retinal dystrophy characterized by an autosomal dominant mutation in the EFEMP1 gene. This pathology was initially described by Doyne in 1899 in England. Later, in 1925, Vogt described a similar phenotipic picture in the Leventine Valley. A particular contribute to the investigation of Malattia Leventinese was due to a Swiss ophthalmologist, Forni, who described the ophthalmoscopic features adding histological images.

The suspect that the two separately described clinical entities corresponded to the same disease arose as early as 1962, but the confirm went only in 1999 as a result of genetic studies. This rare disease shows many aspects very similar to the more frequent age-related macular degeneration. The similarities include the history and symptoms, as both condition may have an insidious onset of mild visual disturbances, with an age-related increasing loss of visual acuity. Drusen are typical found in early stages, but later neovascularization and subsequent scarring may form, and in advanced stages geographic atrophy may occur, and severe central vision loss may result.

Imaging, in particular optical coherence tomography, is the main diagnostic method for diagnosis and follow- up of both diseases.

For Malattia Leventinese the only risk factor is genetic. Therefore any patient suspected of having in his ancestry a case of hereditary dystrophy of the retina should be referred to an ophthalmologist for examination.