Scientists studied families from Italy, Spain, Palestine, Switzerland, and Greece. Members of these families had two main health problems:
- Retinitis pigmentosa (RP) – a condition where light-sensing cells in the eyes slowly die, leading to vision problems.
- Sensorineural hearing loss – hearing loss caused by problems in the inner ear or the nerve pathways to the brain.
These symptoms are similar to Usher syndrome type II.
Researchers found that all affected individuals had changes (mutations) in a gene called AGBL5. This gene makes a protein that functions in parts of cells called cilia, which are found in both the eyes and ears. Before this study, changes in the AGBL5 gene were linked only to the eye disease, retinitis pigmentosa. Now, scientists have found that these changes can also cause hearing loss.
This discovery helps doctors and scientists better understand how certain gene changes can affect both vision and hearing. It also shows that testing for AGBL5 mutations could be important for families with these symptoms.
What this means for the Usher syndrome community: This study shows that the AGBL5 gene may play a role in hearing as well as vision loss. Understanding this gene better can lead to more accurate diagnoses and may open the door to new treatments in the future. It also helps families get clearer answers and feel more supported on their journey.
