Author

M. Menghini

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Open access Sep 2026

Clinical Surrogate Endpoints in Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Findings From a Two-Year Natural History Study

Purpose Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy is a rare, inherited retinal dystrophy characterized by drusen formation and early vision loss. Its phenotypical similarities with dry age-related macular degeneration (AMD) make Malattia Leventinese a valuable monogenetic disease model for AMD. Identifying...

C. Ehrenzeller, Giuseppe Cancian, V. Kostin et al. · Investigative Ophthalmology... · 0 citations

Review Open access Sep 2026

[Stargardt disease: genetics, molecular mechanisms, potential lifestyle interventions and pharmacotherapy].

Stargardt disease (STGD1) is the most common inherited macular dystrophy. It is caused by biallelic variants in the ABCA4 gene and leads to impaired retinoid transport within photoreceptors. Disruption of retinoid clearance results in the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which in turn...

T. Lipsky, Sophia Dithmar, G. Ansari et al. · Die Ophthalmologie · 0 citations

Open access Aug 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.

Petra Liskova, L. Dudakova, Karolina Kaminska et al. · HGG advances · 0 citations