Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Takeaway

  • Neurocognitive degeneration in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) may occur as a result of white matter atrophy which degenerates in a linear manner, providing a possible metric to measure therapeutic efficacy.

Why this matters

  • RVCL-S is a genetic disease that leads to loss of vision and neurocognitive degeneration. Characterizing the disease progression of RVCL-S has proved difficult due to the rare nature of this disease; due to this, the therapeutic efficacy of potential treatments has been difficult to evaluate. Therefore, it is important to characterize the natural history of RVCL-S in order to evaluate the efficacy of future therapies.