Rojita Athokpam(1), M. Optom. Student ,
Haziel Rynjah(2), Assistant Professor
The Assam Royal Global University, Guwahati, India
Keywords
genes, hormones, vision.
Declaration of Interest
No conflict of interest.
Our eyes tell a fascinating biological story written by genes and hormones. Hormones act as chemical messengers that influence ocular tissues throughout life, while genes provide the blueprint for eye development and function. Together, they form a complex biological code that helps determine how the eye develops, functions, and responds to diseases. (1)
Genes: The Blueprint Behind Vision
The eye’s genetic story begins during development. The PAX6 gene is a key regulator of ocular development and helps control the formation and patterning of structures such as the lens and retina. Mutations in PAX6 are associated with several developmental eye disorders. (2)
Genes continue to influence the visual system even after the eye has formed. Multiple genetic variants contribute to the risk of Glaucoma, inherited retinal diseases, and refractive errors. Importantly, many common eye conditions do not result from a single mutation but from interactions among several genes and environmental or biological factors.
Figure 1: This image represents DNA, the molecule of heredity
Image Courtesy: https://images.pexels.com/photos/8470810/pexels-photo-8470810.jpeg
Hormones: The Eye’s Chemical Messengers
The eye is also highly responsive to hormones, including insulin, melatonin, thyroid hormones, and sex hormones. These signals can influence the growth and function of the retina, choroid, and sclera. (3) Thyroid hormones are particularly important for retinal maturation and photoreceptor function, while disturbances in hormonal signalling may contribute to certain retinal and ocular disorders. (4,5)
When Genes and Hormones Talk
Genes and hormones do not work in isolation. They interact through molecular pathways that help shape the developing eye. For example, the thyroid hormone T3 binds to receptors in the developing retina and regulates genes involved in photoreceptor development, including cone photoreceptor subtypes responsible for colour vision. Studies using retinal organoids have provided valuable insights into these mechanisms in human retinal development. (5,6)
When the Code Goes Wrong
An imbalance in genetic or hormonal pathways may influence ocular disease. In Glaucoma, for instance, genetic and hormonal factors can affect intraocular pressure and retinal ganglion cell survival. Oestrogen signalling may have protective effects on retinal nerve cells and influence intraocular pressure, while variations in oestrogen-related pathways may contribute to Glaucoma susceptibility. (7)
From Genetic Code to Personalised Eye Care
Advances in genomics and retinal organoid technology are helping researchers understand how genetic variants and molecular signals influence individual eye diseases. These discoveries are also supporting the development of gene-based therapies for some inherited retinal disorders. In the future, genetic information may improve early diagnosis, risk prediction, and personalised approaches to eye care. (1,2,5)
Conclusion
The eye is more than an organ of sight it is the product of a continuous conversation between DNA and hormones. These biological signals influence eye development, visual function, and susceptibility to disease. Understanding this molecular dialogue could open the door to earlier diagnosis, targeted therapies, and more personalised eye care in the future.
Reference
- Walter MA, Rezaie T, Hufnagel RB, Arno G. Ocular genetics in the genomics age. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2020 Sep (Vol. 184, No. 3, pp. 860-868). Hoboken, USA: John Wiley & Sons, Inc..
- Shaham O, Menuchin Y, Farhy C, Ashery-Padan R. Pax6: a multi-level regulator of ocular development. Progress in retinal and eye research. 2012 Sep 1;31(5):351-76.
- Xu XT, Zhou XT. Advances in the study of the role and mechanisms of endogenous hormones in the development of myopia. [Zhonghua yan ke za Zhi] Chinese Journal of Ophthalmology. 2024 Jun 1;60(6):547-58.
- Nicolini G, Casini G, Posarelli C, Amato R, Lulli M, Balzan S, Forini F. Thyroid hormone signalling in retinal development and function: implications for diabetic retinopathy and age-related macular degeneration. International Journal of Molecular Sciences. 2024 Jul 4;25(13):7364.
- Ng L, Liu Y, Cho YW, Liu H, Forrest D. Differentiation versus dysfunction: thyroid hormone, deiodinases and retinal photoreceptors. European thyroid journal. 2025 Apr 1;14(2).
- McNerney C, Johnston Jr RJ. Thyroid hormone signalling specifies cone photoreceptor subtypes during eye development: Insights from model organisms and human stem cell-derived retinal organoids. InVitamins and hormones 2021 Jan 1 (Vol. 116, pp. 51-90). Academic Press.
- Youngblood H, Schoenlein PV, Pasquale LR, Stamer WD, Liu Y. Estrogen dysregulation, intraocular pressure, and glaucoma risk. Experimental eye research. 2023 Dec 1;237:109725.
About the Authors
Rojita Athokpam
M. Optom Student ,
The Assam Royal Global University, Guwahati, India
Haziel Rynjah
Assistant Professor ,