Ophthalmological characteristics in individuals with facioscapulohumeral dystrophy


  • Correlation between the tortuosity in the retinal arterioles and the D4Z4 repeat array may provide clinical evidence of a genetic link between facioscapulohumeral dystrophy (FSHD) and the retina.

Why this matters

    FSHD is a muscular dystrophy which lacks data on the frequency and techniques for accurately monitoring ophthalmological abnormalities. To fill this gap in knowledge, this study utilizes non-invasive and high-resolution imaging techniques to help provide information on retinal pathology in FSHD.