Byron L. Lam

TL;DR: This patient represents the youngest reported case of malignant optic nerve glioma with the longest reported survival in the literature to date and has had no clinical or radiographic evidence of recurrence in over 7 years.

TL;DR: The genetic etiology of congenital stationary night blindness in children from six Ashkenazi families is determined, finding that each affected child harbored two mutant versions of TRPM1, a gene involved in the transmission of light-elicited signals within the retina of the eye.

TL;DR: The authors explored the perspectives of parents of undiagnosed children enrolled in genomic diagnosis research regarding their motivations for enrolling their children, their understanding of the potential burdens and benefits, and the extent to which their experiences ultimately aligned with or diverged from their original expectations.