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disorders, most of which lead to blindness with limited therapeutic options. Pathogenic variants in RBP4, coding for a major blood carrier of retinol, retinol-binding protein 4, are responsible for a peculiar form of IRD. The aim of this study was to investigate if retinal function of an RBP4-related IRD patient can be improved by retinol administration. Our patient presented a peculiar white-dot retinopathy, reminiscent of vitamin A deficient retinopathy. Using a customized next generation sequencing (NGS) IRD panel we discovered a novel loss-of-function homozygous pathogenic variant in RBP4: c.255G &gt;A, p.(Trp85*). Western blotting revealed the absence of RBP4 protein in the patient\u2019s serum. Blood retinol levels were undetectable. The patient was put on a high-dose oral retinol regimen (50,000 UI twice a week). Subjective symptoms and retinal function markedly and sustainably improved at 5-months and 1-year follow-up. Here we show that this novel IRD case can be treated by oral retinol administration.<\/jats:p>","DOI":"10.3390\/ijms23126590","type":"journal-article","created":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T22:00:38Z","timestamp":1655157638000},"page":"6590","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4172-514X","authenticated-orcid":false,"given":"Vasily M.","family":"Smirnov","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Lille, F-59000 Lille, France"},{"name":"Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, F-59000 Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baptiste","family":"Wilmet","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Nassisi","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Condroyer","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Antonio","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Andrieu","sequence":"additional","affiliation":[{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Devisme","sequence":"additional","affiliation":[{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Sancho","sequence":"additional","affiliation":[{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France"},{"name":"Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburg, PA 15213, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3510-1712","authenticated-orcid":false,"given":"Christina","family":"Zeitz","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0698-5309","authenticated-orcid":false,"given":"Isabelle","family":"Audo","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, National Rare Disease Center REFERET and INSERM-DGOS CIC 1423, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1097\/00004397-200101000-00010","article-title":"Treatable Forms of Retinitis Pigmentosa Associated with Systemic Neurological Disorders","volume":"41","author":"Grant","year":"2001","journal-title":"Int Ophthalmol. 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