Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …

Congenital cataracts, the most common cause of visual impairment and blindness in
children worldwide, have diverse etiologies. According to statistics analysis, about one …

Purpose To characterize the genetic landscape of patients with suspected retinitis
pigmentosa (RP) in the Chinese population. Design Cohort study. Participants A total of …

Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically
heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30 …

The axial length of the eye is critical for normal visual function by enabling light to precisely
focus on the retina. The mean axial length of the adult human eye is 23.5 mm, but the …

Purpose A key property to consider in all genetic tests is clinical utility, the ability of the test to
influence patient management and health outcomes. Here we assess the current clinical …

Gene therapy is a flourishing field with the potential to revolutionize the treatment of genetic
diseases. The emergence of CRISPR-Cas9 has significantly advanced targeted and efficient …

Overall, approximately one‐quarter of patients with genetic eye diseases will receive a
molecular diagnosis. Patients with developmental eye disorders face a number of diagnostic …

Genetic eye diseases affect around one in 1000 people worldwide for which the molecular
aetiology remains unknown in the majority. The identification of disease-causing gene …