Absence of part or all of the iris, aniridia, is a feature of several genetically distinct
conditions. This review focuses on iris development and then the clinical features and …

Variable levels of gene expression between tissues complicates the use of RNA sequencing
of patient biosamples to delineate the impact of genomic variants. Here, we describe a gene …

Background/Aims This study quantifies the threat to vision and the survival in patients
presenting with peripheral ulcerative keratopathy (PUK) corneal perforation associated with …

Background Classic aniridia is a highly penetrant autosomal dominant disorder
characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and …

Genetic eye diseases, representing a wide spectrum of simple and complex conditions, are
one of the leading causes of visual loss in children and working adults, and progress in the …

Classical aniridia is a congenital and progressive panocular disorder almost exclusively
caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine …

Discussion Acute quinine toxicity produces a well-recognised constellation of clinical effects,
known as cinchonism. This case demonstrated visual and hearing loss as well as signs of …

Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of
eye development defects, including aniridia, microphthalmia and coloboma. To understand …