Developmental delays are a widely recognized feature of Bardet-Biedl syndrome (BBS); however, there is little research on the challenges faced by people with BBS.
Certain phenotypes across the spectrum of ABCA4-associated retinopathies (ABCA4R) have preferential photoreceptor degeneration, while others have substantial alterations in the retinal pigment epithelium (RPE) and...
Most women who are carriers of X-linked inherited retinal diseases (IRDs) experience negative emotions about their child’s vision and their own vision, according to a study published in Clinical Genetics. Lauren Ayton, PhD,...