Article
A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.
Scientific data - 7 May 2026
Rocatcher Aude, Dieu Xavier, Desquiret-Dumas Valérie, Billiet Benjamin, Chassaing Nicolas, Dollfus Hélène, Meunier Isabelle, Rougier Marie-Bénédicte, Polfrit Yann, Lenaers Guy, Milea Dan, Gohier Philippe, Mirebeau-Prunier Delphine, Amati-Bonneau Patrizia, Reynier Pascal, Ferré Marc
Abstract excerpt
Biallelic pathogenic variants of the Reticulon 4 interacting protein 1 (RTN4IP1) gene are responsible for optic atrophy, either isolated or associated with ataxia, mental retardation, and seizures. They are identified as a cause of hereditary optic neuropathy in 7% of patients diagnosed before the age of 20. We have built a dataset for this gene by collating all the clinical cases available in the literature, and...
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