The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.

molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

Purpose: Aniridia is a congenital disorder caused by variants in the gene. In this study, we assessed the involvement of in patients with aniridia from Australasia and Southeast Asia.

Methods: Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bhutan were included.