RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

Background: Mutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are estimated to cause up to 20% of all Caucasian retinitis pigmentosa and up to 75% of cases of X-Linked RP (XLRP). Exon open reading frame 15 (ORF15) is a purine-rich mutation hotspot. Mutations in RPGR ORF15 have also been documented to cause X linked cone-rod dystrophy (XLCORD) and atrophic macular degeneration at an unknown frequency.

Optokinetic nystagmus as an assessment of visual attention to divided stimuli.

Attentional resources are finite and decline with age. We measured subjects' abilities to generate optokinetic nystagmus (OKN), to suppress it with fixation and to continue to suppress it when fixating while simultaneously paying covert attention to a feature of the optokinetic (OK) stimulus. During fixation with a red laser spot, OKN was almost fully suppressed.

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.

Background: X-linked retinoschisis (XLRS), an X-linked recessive inherited degenerative retinopathy, is characterized by splitting in the nerve fibre layer and is caused by alterations in the RS1 gene. The aim of the present study was to review both the phenotypic features of XLRS and the mutation spectrum of the RS1 gene in an Australian cohort.

Methods: Patients were recruited from ophthalmic and paediatric hospitals as well as private ophthalmic clinics across Australia.

Bedside tests of saccades after head injury.

Objectives: To compare the techniques of bedside and infrared oculographic tests of saccades and to compare the results of both tests in control subjects and in patients with traumatic brain injuries (TBI).

Materials And Methods: The authors elicited single memory-guided saccades, antisaccades, and self-paced saccades in 19 TBI subjects and 26 age-matched control subjects at the bedside. Taped instructions were used to ensure that the timing and sequence of each stimulus (index finger flexion) were the same in all subjects and as close as possible to those used in both the current and previous laboratory studies.