To report the clinical phenotype in a series of four children from three families with the rare association of high myopia, central macular atrophy, and normal full-field electroretinography (ERG).

Scientists have shown that a fully automated procedure called Volumetric MRI -- which measures the "memory centers" of the brain and compares them to expected size -- is effective in predicting the ...

A new case report highlights the difficulties in pinning down spinal muscular atrophy (SMA) when it presents in a mild form. Symptoms of spinal muscular atrophy (SMA) often appear early and with ...