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

Development of the anterior segment of the eye requires reciprocal sequential interactions
between the arising tissues, facilitated by numerous genetic factors. Disruption of any of …

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 …

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 …

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 …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

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 …

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 …