‘Mini eyes’ helping scientists understand a genetic condition that causes blindness


Scientists from University College London’s Great Ormond Street Institute of Child Health (UCL GOS ICH), report making human eyes in miniature, making it much easier to study and understand the development and progression of blindness in the rare disease genetics known as Usher syndrome.


These 3D “mini eyes” are organoids (a simplified and miniaturized version of an organ produced in vitro in three dimensions) and were developed using stem cells generated from skin samples donated by patients at Great Ormond Street Hospital for Children (GOSH) . In a healthy human eye, light-sensing cells are found at the back of the eye, within the retina (which is responsible for image processing). In this latest research, the authors of the study were able to solicit these cells, called rod cells, in order to induce them to “organize themselves” in layers that mimic their organization in the retina, thus creating a “mini eye  .

While cochlear implants can help mitigate hearing loss, there are currently no treatments for retinitis pigmentosa (slowly progressive, bilateral degeneration of the retina and retinal pigment epithelium), considered the leading cause of vision loss associated with Cochlear syndrome. Usher. This new work, albeit preliminary, opens up exciting new possibilities for understanding the disease and designing a future treatment that could help countless people retain their vision.

How are scientists using these ‘mini-eyes’ to improve medical treatments?

Because the mini-eyes were grown using cells donated by patients with and without the genetic ‘defect’ responsible for Usher syndrome, the researchers were able to compare healthy cells with those that will lead to blindness. A clearer understanding of these differences could provide vital clues about what changes occur in the eye before vision begins to deteriorate.


“It is difficult to study the tiny, inaccessible nerve cells of a patient’s retina, as they are very intricately and delicately positioned at the back of the eye. Using a small biopsy, we now have the technology that allows the cells to be reprogrammed from stem to retinal, they are also grown in the laboratory so with the same DNA and genetic conditions as our patients,” said first author of the study, Dr. Yeh Chwan Leong, in a press release.


Mini-eyes aren’t limited to Usher syndrome research. The study authors explain that these organoids may help many researchers better understand other hereditary conditions in which rod cell death occurs in the eye, such as forms of retinitis pigmentosa without deafness. Furthermore, the technology used to grow disease models through human skin cells can be used for numerous other diseases.

  • Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution. (




Related Articles

Leave a Reply

Your email address will not be published. Required fields are marked *

Back to top button