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  1. Article

    Open Access

    Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome

    To compare different clinical and Spectral-Domain Optical Coherence Tomography (SD-OCT) features of high myopic eyes with Stickler syndrome (STL) with matched controls.

    Olivia Xerri, Federico Bernabei, Elise Philippakis… in BMC Ophthalmology (2021)

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  2. Article

    Open Access

    Untreated Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE): a case series

    Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) is a rare inflammatory eye disease that affects the Retinal Pigment Epithelium and outer retina. The purpose of this study was to describe its...

    Olivia Xerri, Sawsen Salah, Dominique Monnet, Antoine P. Brézin in BMC Ophthalmology (2018)

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  3. No Access

    Article

    Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

    Josseline Kaplan, Jean-Michel Rozet and colleagues show that biallelic mutations in NMNAT1 cause an autosomal recessive form of Leber congenital amaurosis characterized by early-onset severe macular atrophy and o...

    Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, Valérie Serre… in Nature Genetics (2012)