Age-related macular degeneration (AMD) is the third most common cause of blindness in elderly people. The so-called "yellow dot" (macula) enables the human being to see sharply. The macula is located on the retina. With the time, there can occur small deposits in form of drusen, triggering angiogenesis (blood vessel formation).

The choroid forms smallest defective blood vessels, which cause bleeding, swelling or scars. Then, the photoreceptors can no longer convert incident light into neural signals and fail. The loss of vision affects the central visual field, the peripheral areas remain intact. There is no cure so far.

For their investigations, the researchers led by Professor Dr. Kelly A. Frazer from the Institute for Genomic Medicine initially used skin samples from six donors and converted them into induced pluripotent stem cells (iPSC). From these, retina-like cells were developed. The scientists gathered the molecular data of these cells and compared them with the data of 18 adults with and without AMD.

The researchers found out that a genetic variation that could alter the expression of the gene vascular endothelial growth factor (VEGF), plays a role in the development of AMD. The VEGF gene encodes the VEGF-A protein, which is considered to be the main factor for triggering the growth of blood vessels.

The researchers have published their findings in the Journal Stem Cell Reports:
Smith, E. N, et al. (2019). Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci. Stem Cell
Reports. doi.org/10.1016/j.stemcr.2019.04.012.

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https://www.news-medical.net/news/20190529/Eye-in-a-dish-helps-scientists-to-uncover-surprising-