Gail D E Maconachie

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PURPOSE The adaptive strategies adopted by individuals with infantile nystagmus syndrome (INS) during reading are not clearly understood. Eye movement recordings were used to identify ocular motor strategies used by patients with INS during reading. METHODS Eye movements were recorded at 500 Hz in 25 volunteers with INS and 7 controls when reading(More)
Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether the afferent visual system is involved in FRMD7 mutations,(More)
Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and(More)
PURPOSE To determine feasibility of optic nerve head (ONH) imaging and to characterize ONH development in full-term infants without sedation using handheld spectral-domain optical coherence tomography (SD OCT). DESIGN Prospective cross-sectional study. PARTICIPANTS Three hundred fifty-two children aged between 1 day and 13 years. METHODS All(More)
Purpose To investigate optic nerve (ON) and macular morphology in patients with Parkinson's disease (PD) using spectral-domain optical coherence tomography (SD-OCT). Subjects Twenty-five participants with PD (19 males and 6 females; mean age 60.79; SD ± 9.24) and 25 sex-, age-, ethnicity-, and refraction-matched healthy controls. Methods A(More)
PURPOSE To characterize the time course of normal foveal development in vivo in term infants and young children using handheld spectral-domain optical coherence tomography (HH-SDOCT). METHODS We obtained 534 HH-SDOCT scans from 261 infants, children, and young adults with a mean age of 4.9 years (range, 0-27 years). Each retinal layer was manually(More)
BACKGROUND Retinal development normally involves migration of the inner retinal layers away from the fovea, migration of the cone photoreceptors into the fovea, and elongation of the photoreceptors over time. This process is arrested prematurely in albinism. However, because retinal development continues at least until the age of 4 years, when development(More)
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