Sep, 2022 - By WMR
The latest research has revealed that how choroideremia, a rare hereditary illness that causes blindness, affects cells in several layers of tissue in the eye.
Researchers at the National Eye Institute (NEI) have revealed for the first time how cells in the various tissue layers of the eye are impacted in people with choroideremia, a rare genetic disorder that causes blindness, through the combination of current eye imaging techniques with adaptive optics, a technology that enhances image resolution. Communications Biology published the results of this work.
Head of the NEI Clinical Johnny Tam, Ph.D., and his team carefully examined how these tissues were altered by choroideremia, providing information that might be used to find treatments for a variety of illnesses. The Retinal Pigment Epithelium (RPE) of the retina is a layer of pigmented cells that is necessary for the maintenance and survival of photoreceptors. The main finding of the study was that RPE cells in choroideremia are significantly increased in both men and women. Due to the disease's gene's location on the X chromosome, men are more likely than women to develop choroideremia.
In the female study subjects, RPE cells were larger and appeared to be in better health. According to Tam, this may assist to understand why choroideremia symptoms in women are less severe. Both male and female study participants had less damage to the photoreceptor and blood vessel layers, demonstrating that RPE disruption significantly contributes to choroideremia.Tam's adaptive optics are not utilised in the typical diagnostic techniques used in in eye hospitals. Strangely, the team discovered that even with an optical scanner using a laser that is easily available on the market and dyed with indocyanine green, the enlarged RPE cells remain visible.