Purpose Despite extensive research, mechanisms regulating postnatal eye growth and
those responsible for ametropias are poorly understood. With the marked recent increases …

Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

GPR101 is an orphan G protein-coupled receptor actively participating in energy
homeostasis. Here we report the cryo-electron microscopy structure of GPR101 …

Elevation of intraocular pressure (IOP) due to therapeutic use of glucocorticoids is called
steroid-induced ocular hypertension (SIOH); this can lead to steroid-induced glaucoma …

Traditional approaches for gene mapping from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …

Primary cilia are sensory organelles present on most mammalian cells. The assembly and
maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous
retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and …

Inherited retinal diseases (IRDs) are genetically and clinically heterogeneous disorders.
Together, they have an estimated incidence of 1: 2000 and thereby are the leading cause of …