Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.

Mutations in OPA1 are responsible of 32-89% cases of Autosomal Dominant Optic Atrophy (ADOA). OPA1 ADOA usually presents in childhood with bilateral, progressive visual loss due to retinal ganglion cells neurodegeneration, but environmental factors are supposed to influence onset and phenotype. Sixty Italian OPA1 mutations carriers (fifty-two symptomatic), belonging to thirteen families, underwent neuro-ophthalmologic evaluation. Visual acuity (n=60) and Optical Coherence Tomography (OCT) (n=12) were compared in missense mutations (OPA-M) versus haploinsufficiency-inducing mutations (OPA-H) and correlated with age. Presence of plus phenotypes was investigated. We found four known mutations, the most common being missense c.1034G>A, and a new missense mutation, c1193A>C, the latter in a 54-yrs old female with late-onset phenotype. Visual acuity, colour sensitivity, and optic disc atrophy were sensitive indicators of disease. OCT RNFL thickness was reduced in OPA1 compared to controls. OPA-M showed worst visual acuity than OPA-H, but not more frequent plus-phenotype, observed only in four OPA-H patients. In both groups, visual acuity worsened with age. Our data confirm worst vision in OPA-M, but not increased plus-phenotype. Since most patients belonged to nine families from south-eastern Sicily (a famous region for the cult of St. Lucy, patron of the blinds) local genetic and environmental factors might have accounted for the low occurrence of plus-phenotypes.

Use of a Remote Eye-Tracker for the Analysis of Gaze during Treadmill Walking and Visual Stimuli Exposition.

The knowledge of the visual strategies adopted while walking in cognitively engaging environments is extremely valuable. Analyzing gaze when a treadmill and a virtual reality environment are used as motor rehabilitation tools is therefore critical. Being completely unobtrusive, remote eye-trackers are the most appropriate way to measure the point of gaze. Still, the point of gaze measurements are affected by experimental conditions such as head range of motion and visual stimuli. This study assesses the usability limits and measurement reliability of a remote eye-tracker during treadmill walking while visual stimuli are projected. During treadmill walking, the head remained within the remote eye-tracker workspace. Generally, the quality of the point of gaze measurements declined as the distance from the remote eye-tracker increased and data loss occurred for large gaze angles. The stimulus location (a dot-target) did not influence the point of gaze accuracy, precision, and trackability during both standing and walking. Similar results were obtained when the dot-target was replaced by a static or moving 2D target and "region of interest" analysis was applied. These findings foster the feasibility of the use of a remote eye-tracker for the analysis of gaze during treadmill walking in virtual reality environments.

Tracking gaze while walking on a treadmill: spatial accuracy and limits of use of a stationary remote eye-tracker.

Inaccurate visual sampling and foot placement may lead to unsafe walking. Virtual environments, challenging obstacle negotiation, may be used to investigate the relationship between the point of gaze and stepping accuracy. A measurement of the point of gaze during walking can be obtained using a remote eye-tracker. The assessment of its performance and limits of applicability is essential to define the areas of interest in a virtual environment and to collect information for the analysis of the visual strategy. The current study aims at characterizing a gaze eye-tracker in static and dynamic conditions. Three different conditions were analyzed: a) looking at a single stimulus during selected head movements b) looking at multiple stimuli distributed on the screen from different distances, c) looking at multiple stimuli distributed on the screen while walking. The eye-tracker was able to measure the point of gaze during the head motion along medio-lateral and vertical directions consistently with the device specifications, while the tracking during the head motion along the anterior-posterior direction resulted to be lower than the device specifications. During head rotation around the vertical direction, the error of the point of gaze was lower than 23 mm. The best accuracy (10 mm) was achieved, consistently to the device specifications, in the static condition performed at 650 mm from the eye-tracker, while point of gaze data were lost while getting closer to the eye-tracker. In general, the accuracy and precision of the point of gaze did not show to be related to the stimulus position. During fast walking (1.1 m/s), the eye-tracker did not lose any data, since the head range of motion was always within the ranges of trackability. The values of accuracy and precision during walking were similar to those resulting from static conditions. These values will be considered in the definition of the size and shape of the areas of interest in the virtual environment.