Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees.

Objective: To investigate whether structural differences of the optic nerve head are evident in young people who do not have manifest glaucoma but are known to carry myocilin mutations.

Methods: A case-control design was adopted. Subjects from Australian pedigrees known to have either the Gln368STOP myocilin mutation (cutoff age, <40 years) or the Thr377Met myocilin mutation (cutoff age, <30 years) were examined for signs of glaucoma.

Central corneal thickness is highly heritable: the twin eye studies.

Purpose: A classic twin study was performed to determine the heritability of central corneal thickness (CCT), an important parameter in glaucoma assessment.

Methods: The concordance of CCT between monozygotic (MZ) and dizygotic (DZ) twins was compared. A total of 256 twin pairs (131 MZ and 125 DZ) were recruited from three centers: the Twin Eye Study in Tasmania, the Brisbane Adolescent Twin Study, and the Twins U.

Are Duane syndrome and infantile esotropia allelic?

Purpose: To evaluate the clinical overlap of families with Duane syndrome and infantile esotropia to determine whether the identification of genes for Duane syndrome may explain some cases of infantile esotropia.

Methods: Three separate groups of patients were evaluated. 1) Families with features of infantile esotropia were identified through the Strabismus Inheritance Study Tasmania (SIST).

Digital stereoscopic analysis of the optic disc: evaluation of a teaching program.

Purpose: To determine if a computer-based stereoscopic teaching program could improve optic cup/disc ratio (CDR) agreement between student observers and an expert.

Design: Experimental study.

Participants: Six student observers (A-F) assessed at least 30 digital stereoscopic optic disc images using a digital stereoscopic analysis program.