Researchers from the National Eye Institute (NEI), a part of the US National Institutes of Health (NIH), have used a new imaging technique to reveal subtle details regarding pathology in a rare eye disease.
They have determined that retinal lesions from vitelliform macular dystrophy (VMD) can differ depending on gene mutation.
The researchers noted that resolving these differences may be an important factor in designing effective treatments for VMD, as well as other rare diseases.
NEI Clinical and Translational Imaging Unit head Johnny Tam used multimodal imaging to assess the retinas of VMD patients at the NIH Clinical Center.
The new multimodal imaging uses adaptive optics to see live cells, which include retinal pigment epithelial (RPE) cells, light-sensing photoreceptors and blood vessels, in the retina.
Adaptive optics is a technique that uses deformable mirrors to improve resolution.
NEI director Michael Chiang said: “The NEI’s long-term investment in imaging technology is changing our understanding of eye diseases.
“This study is just one example of how improved imaging can reveal subtle details about pathology in a rare eye disease that can inform the development of therapeutics.”
Along with his team and clinicians at the NEI Eye Clinic, Tam used genetic testing and other clinical assessments to characterise 11 participants.
The participants’ retinas were later evaluated using multimodal imaging.
The cell densities (photoreceptors and RPE cells) evaluation near VMD lesions revealed differences in density according to various mutations.
The researchers noted that the IMPG1 and IMPG2 mutations had a high effect on photoreceptor cell density compared to RPE cell density.
Despite lacking lesions, the scientists identified similar effects on cell density in the unaffected eye of participants with only one affected eye.
Tam is now using this new multimodal imaging technique on various other rare retinal diseases as well as certain common diseases, such as age-related macular degeneration.