Costs and effectiveness of two models of school-entry visual acuity screening in the UK.

Cost effectiveness of different visual screening modalities cannot be calculated without long-term outcome data. This paper reports detailed outcomes from a gold-standard UK recommended orthoptist-delivered screening (ODS) at 4-5 years in school, compared to a neighboring school-nurse delivered screening (SNDS), both feeding into the same treatment pathway. The target condition was reduced visual acuity (VA) of worse than logMAR 0.

Congenital cataract in a child with pyridoxine-dependent epilepsy.

Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease. We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress.