A preclinical study conducted by researchers at UT Southwestern Medical Center reveals that female sex hormones significantly accelerate the course of the rare neurodegenerative eye disease retinitis pigmentosa (RP). The study appears in Science Advances and according to the experts, has the potential to lead to therapeutics to slow the progression of the disease and inform clinicians on the risk of hormone therapies for female patients with genetic markers for the condition.
Study Links Female Sex Hormones To Eye Disease
The researchers used male and female mice with a mutation in rhodopsin (RHO P23H) - one of the main proteins involved in light sensing in the retina - that leads to retinitis pigmentosa. At two months, the researchers observed a significant dysfunction in the layer of photoreceptors in the female retinas as opposed to the males, which was associated with a quicker loss of vision and a sex difference in disease progression. In contrast, the vision of healthy mice bred without the RHO P23H mutation did not change after the introduction of female sex hormones. This suggests that an interaction exists between the rhodopsin mutation and female sex hormones, contributing to increased inflammation and cell death compared to males. “Retinitis pigmentosa is a frequently inherited form of vision loss, which was previously thought to be independent of biological sex.,” explained Katherine Wert, Ph.D., Assistant Professor of Ophthalmology at UT Southwestern and one of the lead authors of the study.
“We discovered we can actually slow disease progression in female mice if we deplete their sex hormones,” she added. Ashley Rowe, the lead author of the study and a doctoral student in Dr. Wert’s laboratory explained: "Our team’s research, although limited, merits a follow-up examination of whether hormonal therapy has some effect in women who have other retinal diseases related to our findings." The authors stated there is no evidence that birth control and hormone replacement therapy have a detrimental effect on vision in women without mutations associated with retinitis pigmentosa.
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Bottom Line
The discovery of the link between female sex hormones and eye disease, although groundbreaking, presents a unique set of challenges for the experts. The researchers however are quite optimistic about the implications of the link and the possible follow up research. “We’re not advocating for depleting women’s hormones,” the lead author said. “Yet, this discovery opens exciting opportunities to understand the underlying mechanisms that lead to worsened disease outcomes in women, which could lead to game-changing future therapies for patients with RP, both women and men.,” she stated.