Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most
common form of inherited retinal dystrophy, characterized by progressive degradation of …

While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the
major cause of registered visual handicap in the developed world. Given their hereditary …

Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically
heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we …

Background In inherited retinal disorders such as retinitis pigmentosa (RP), rod
photoreceptor-specific mutations cause primary rod degeneration that is followed by …

Background Inherited retinal dystrophies (IRD) are one of the main causes of incurable
blindness worldwide. IRD are caused by mutations in genes that encode essential proteins …

The human neural retina is a complex tissue with abundant alternative splicing and more
than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing …

PRPF31 is ubiquitously expressed splicing factor and has an essential role in the pre-mRNA
splicing in all tissues. However, it is not clear how reduced expression of this general …

Purpose To identify the accurate clinical diagnosis of rare syndromic inherited retinal
diseases (IRDs) based on the combination of clinical and genetic analyses. Methods Four …

Background Various epigenetic regulations systematically govern gene expression in cells
involving various biological processes. Dysregulation of the epigenome leads to aberrant …

Primary ovarian insufficiency (POI) is one of the major causes of female infertility associated
with the premature loss of ovarian function in about 3.7% of women before the age of 40 …