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DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.

Retina (Philadelphia, Pa.) - 1 Apr 2021

Nassisi Marco, Wohlschlegel Juliette, Liu Bingqian, Letellier Camille, Michiels Christelle, Aubois Anne, Mohand-Said Saddek, Habas Christophe, Sahel José-Alain, Zeitz Christina, Audo Isabelle

Abstract excerpt

PURPOSE: To reappraise the presentation and the course of ITM2B-related retinal dystrophy and give further insights into ITM2B expression in the retina. METHODS: The clinical data of nine subjects with ITM2B-related retinal dystrophy were retrospectively reviewed. The genetic mutation was assessed for its influence on splicing in cultured fibroblasts. The cellular expression of ITM2B within the inner retina was...

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PMID: 32826790
DOI: 10.1097/IAE.0000000000002953

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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