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Malattia Leventinese

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Hereditary Chorioretinal Disorders

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Abstract

Malattia Leventinese (ML), also known as Doyne honeycomb retinal dystrophy (DHRD) or dominant radial drusen (DRD), was described in patients living in the Leventine Valley in Canton Ticino of southern Switzerland in 1925. A missense mutation (Arg345Trp) in the gene EFEMP1 was discovered to be causative for both the conditions. Characteristic clinical findings consist of radial macular drusen, large confluent drusen, and juxta papillary drusen, which can be an isolated finding. ML is reported to be autosomal dominant with variable expressivity phenotype. Early visual symptoms include reduced central vision, metamorphopsia, and photophobia. The vision gradually deteriorates over many years, but some patients might never experience a vision loss. No curative treatment is available for ML; however, some prophylactic argon laser treatment has been promising in improving visual acuity and reducing the drusen volume. Anti-VEGF treatment is efficient in stabilizing a choroidal neovascular membrane, which is a frequent complication in more severe cases.

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Authors and Affiliations

  1. Department of Ophthalmology, Genetic and Rare Disease, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland

    Veronika Vaclavik

  2. Department of Ophthalmology, Medical Retina, Canton Hospital, HFR, Fribourg, Switzerland

    Veronika Vaclavik

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  1. Veronika Vaclavik
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Correspondence to Veronika Vaclavik .

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  1. Singapore National Eye Center, Singapore, Singapore

    Gemmy Cheung

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Vaclavik, V. (2020). Malattia Leventinese. In: Cheung, G. (eds) Hereditary Chorioretinal Disorders. Retina Atlas. Springer, Singapore. https://doi.org/10.1007/978-981-15-0414-3_9

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  • DOI: https://doi.org/10.1007/978-981-15-0414-3_9

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