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        Retinoid therapy may improve

        vision in people with rare

        genetic disorder

                  Vision in people with Usher syndrome type 1F worsens with age. The retinas have spotty pigment, fewer blood vessels,
                                   and the optic nerve pales. Image source:

              sing data generated            is a 2% chance each person is       trials for safety, along with others
              from patients and mice         a carrier of the Usher syndrome     that are in phase II clinical trials
       Uwith genetic mutation for            type 1F mutation, accounting for    to treat other types of vision loss
        the disorder Usher syndrome,         approximately 60% of their Usher    disorders.”
        researchers from the University      syndrome type 1 cases. There are
        of Maryland School of Medicine       no approved therapies to prevent    The team hopes to partner with
        (UMSOM), the National                vision loss or restore vision in    one of the companies testing these
        Institutes of Health’s National      people with Usher syndrome.         drugs to launch a clinical trial in
        Eye Institute (NEI), and National                                        patients with Usher syndrome type
        Institute on Deafness and Other      “The drug we used in mice may       1F to see if it can help by preventing
        Communication Disorders (NIDCD),     provide a first step to improve     continuing vision loss.
        documented the natural history       eye health in people with Usher
        of vision impairment in patients     syndrome type 1F,” said Zubair      “The identification of a key mutation
        and identified the cell mechanism    M. Ahmed, PhD, Professor of         in the PCDH15 gene nearly
        behind progressive vision loss.      Otorhinolaryngology -- Head &       two decades ago was a critical
                                             Neck Surgery and Ophthalmology      breakthrough, facilitating the
        Based on these findings, published   at UMSOM. “Unfortunately, these     diagnosis of and carrier screening
        on November 9, 2021, in the journal   drugs will not permanently cure    for a certain form of Usher
        eLife, the team was able to test     loss of vision, as the drug does    syndrome, now resulting in the
        a retinoid therapy that improved     not repair damage or prevent        discovery of a potential preventative
        vision in mice with Usher syndrome.   degeneration of the eyes. However,   therapy for vision loss associated
        The researchers said assessing       it should improve the function of the   with the syndrome,” said Thomas
        a similar therapy should now be      tissue that these patients still have.”  B. Friedman, Ph.D., Chief of the
        considered in people with Usher                                          Laboratory of Molecular Genetics at
        syndrome to see if this therapy      First author of the study Saumil    the NIDCD. “This work exemplifies
        might slow vision loss.              Sethna, PhD, Instructor in          the value of basic science research
                                             Otorhinolaryngology -- Head &       in driving the development of novel
        Usher syndrome type 1F (USH1F)       Neck Surgery, said, “There are      diagnostics and therapeutics.”
        causes deafness, progressive         currently FDA-approved relatives
        vision loss, and balance issues.     of these retinoid drugs that are
        Among Ashkenazi Jews, there          available and have passed clinical                            12

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