| Abstrakt: |
A recent study conducted at Columbia University in New York City explored Bardet-Biedl Syndrome (BBS), an autosomal recessive disorder that affects multiple organ systems. The study focused on a BBS patient with mutations in the ARL6 gene, who exhibited symptoms consistent with cone or cone-rod dystrophy. The patient's full field electroretinogram (ffERG) showed normal scotopic step tracings and diminished amplitudes in the photopic steps, indicating a rod-sparing phenotype. This finding contributes to our understanding of BBS pathophysiology and expands the existing phenotype. The research was funded by various organizations, including the National Institutes of Health (NIH) and the Foundation Fighting Blindness. [Extracted from the article] |
