Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4 -Related Retinal Dystrophy

Inherited retinal diseases (IRD) are a group of heterogeneous 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...

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Bibliographic Details
Published in:International journal of molecular sciences 2022-06, Vol.23 (12), p.6590
Main Authors: Smirnov, Vasily M, Wilmet, Baptiste, Nassisi, Marco, Condroyer, Christel, Antonio, Aline, Andrieu, Camille, Devisme, Céline, Sancho, Serge, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Format: Article
Language:English
Subjects:
Acne
Blood
Case Report
Disease
Enzymes
Food and Nutrition
fundus albipunctatus
Genotype & phenotype
Human health and pathology
Humans
inherited retinal degeneration
Life Sciences
Metabolism
Next-generation sequencing
Patients
Proteins
RBP4
Retina
Retina - metabolism
Retinal degeneration
Retinal Dystrophies - drug therapy
Retinal Dystrophies - genetics
Retinene
retinol treatment
Retinol-binding protein
Retinol-Binding Proteins, Plasma - genetics
Retinol-Binding Proteins, Plasma - metabolism
Retinopathy
Sensory Organs
Sequences
Signs and symptoms
Vitamin A
Vitamin A - therapeutic use
Western blotting
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Summary:Inherited retinal diseases (IRD) are a group of heterogeneous 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 >A, p.(Trp85*). Western blotting revealed the absence of RBP4 protein in the patient’s 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.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms23126590