Can vitamin A help treat Usher syndrome?

The benefit of vitamin A in protecting vision in Usher syndrome is not conclusive. Some medical pages, based on older studies, mention the possibility of slowing retinitis pigmentosa in some patients [2]. However, a re-analysis published in 2023 did not show a general benefit of the supplement in the studied cohort of adults with retinitis pigmentosa [4]. Therefore, discuss the genotype, limitations of the evidence, and the risks of high doses with a retinal specialist before using the supplement.

Understanding the relationship between retinitis pigmentosa and Usher syndrome

Usher syndrome is characterized as a genetic condition that combines hearing loss with progressive vision loss, and some types may be associated with balance issues resulting from retinitis pigmentosa [1]. In this condition, the light-sensitive cells in the retina gradually deteriorate, often starting with night blindness and a narrowing of the visual field, known as tunnel vision. Given the nature of this deterioration, researchers have sought for many years to find nutritional or pharmacological interventions that might help protect the remaining cells, but results have remained conflicting and uncertain over the past decades [3].

What have recent studies revealed?

In a comprehensive analysis conducted in 2023, which involved re-evaluating data from long-term clinical trials, researchers reached results that were previously unexpected regarding the efficacy of supplements [4]. The results showed that the overall effect of vitamin A in slowing the deterioration of retinitis pigmentosa in the group as a whole was not detectable or demonstrable [4]. This means that current data does not support the hypothesis of a general neuroprotective effect of vitamin A for all genotypes included in the study [4]. Studying a group of retinitis pigmentosa patients does not mean that the result applies equally to every type of Usher syndrome; the genotype and limitations of evidence should be discussed with a retinal specialist [4].

Medical information also clarifies that the older studies referred to did not include patients with type 1 Usher syndrome, and their results or dosage recommendations should not be generalized to them [3]. The interpretation of results varies depending on the genotype and the patients included in the study; this is one reason why professional consultation is important.

Important warnings and safety recommendations

When considering eye health and the management of Usher syndrome, the following points must be carefully considered:

• Avoid indiscriminate intake: Do not start taking high-dose vitamin supplements on your own. Unstudied doses may cause unwanted side effects [2].
• Risks of vitamin E: Research has indicated that high-dose vitamin E supplements may be associated with an acceleration in the deterioration of the retina, so one must be extremely cautious about taking vitamin E supplements without specialized medical advice [4].
• Pregnancy: Do not start a high-dose vitamin A supplement during pregnancy or when planning for it, as it may increase the risk of birth defects. If you are already taking a prescribed product, contact your doctor quickly to review its safety and usage plan [3].

Optimal care for patients with this syndrome relies on regular follow-up with a multidisciplinary medical team that includes ophthalmologists and audiologists, in order to receive appropriate support through hearing aids, assistive vision technologies, and rehabilitation [2]. For more information on the comprehensive care approach, you can view Usher syndrome: Understanding hearing and vision challenges and early intervention (Arabic). If you are already taking a prescribed supplement, consult a retinal specialist to discuss its continuation and dosage; do not change the treatment plan based solely on reading this information.

Medical references

• Usher syndrome
• Usher Syndrome
• Usher Syndrome
• Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker - PMC