Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Purpose: To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico.

Methods: Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonography of the eyes was performed on some family members. Genomic DNA was analyzed by homozygosity mapping using the Affymetrix 6.

Nurse specialist treatment of eye emergencies: five year follow up study of quality and effectiveness.

The role of specialist nurses in triage, diagnosis and management of emergency eye conditions is well established, and encouraging reports of the safety and effectiveness of such services have been published. Specialist nurses in an emergency eye clinic in the UK seeing >7000 patients per year had been found at initial evaluation to treat 22% of the 1976 patients seen over a three month period without referring on to an ophthalmologist. A repeat of this evaluation five years later found this proportion had dropped to 17% (chi(2) = 16.