The cone dystrophies are a heterogeneous group of inherited disorders that result in dysfunction of the cone photoreceptors and sometimes their post-receptoral pathways. The major clinical features of ...

For mere clinical classification purposes, rod-cone dystrophies can be broadly divided into early onset forms (i.e., which are either consistently severe from birth with little progression thereafter ...

In a small study of six unrelated participants, researchers linked the gene UBAP1L to different forms of retinal dystrophies, with issues affecting the macula, the part of the eye used for central ...

Scientists at the National Institutes of Health (NIH) and their colleagues have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the ...