Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. These results highlight the diverse ocular phenotypes caused by PXDN mutations, which are likely due to differences in genetic background and environmental factors. Peroxidasin is an extracellular matrix-associated protein with peroxidase catalytic activity, and we confirmed localization of the protein to the cornea and lens epithelial layers. Our findings imply that peroxidasin is essential for normal development of the anterior chamber of the eye, where it may have a structural role in supporting cornea and lens architecture as well as an enzymatic role as an antioxidant enzyme in protecting the lens, trabecular meshwork, and cornea against oxidative damage.

The prevalence of neovascularization following acute CRAO in our population was 18.2% at an average of 8.5 weeks post CRAO. There was a temporal relationship between the 2 events and no other causes of neovascularization demonstrable in our cohort of patients. There is no consensus on the follow-up regimen post CRAO to detect ocular neovascularization complications. Our study suggests that neovascularization can occur early and regular follow-up especially in the first 4 months is important post CRAO.

Purpose To determine the proportion of patients presenting with thromboembolic central retinal artery occlusion (CRAO) who had undiagnosed vascular risk factors amenable to modification. Methods A retrospective audit of consecutive patients with non-arteritic/thromboembolic CRAO presenting between 1997 and 2008 in a single tertiary teaching hospital. Results Thirty-three patients with non-arteritic CRAO were identified. Twentyone patients (64%) had at least one new vascular risk factor found after the retinal occlusive event, with hyperlipidemia being the most common undiagnosed vascular risk factor at the time of the sentinel CRAO event (36%). Nine patients (27%) had newly diagnosed hypertension or previous diagnosis of hypertension but not optimally controlled. To better control their vascular risk factors 18 patients (54%) were given a new or altered medication. Nine patients had more than 50% of ipsilateral carotid stenosis ; six of these proceeded with carotid endarterectomy or stenting. One patient had significant new echocardiogram finding. Systemic ischaemic event post CRAO occurred in two patients with stroke and acute coronary syndrome. Conclusions Patients presenting with CRAO often have a previously undiagnosed vascular risk factor that may be amenable to medical or surgical treatment. As this population is at a high risk of secondary ischaemic events, risk factor modification is prudent.