Gail D E Maconachie

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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)
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 develop a nystagmus-specific quality-of-life (QOL) questionnaire derived from patient concerns based on eudaimonic aspects of well-being. DESIGN Cross-sectional study. PARTICIPANTS A total of 206 participants with nystagmus for factor analysis phase and an additional 42 participants with nystagmus for construct validity phase. METHODS(More)
OBJECTIVE To investigate the feasibility of handheld (HH) ultra-high-resolution spectral-domain optical coherence tomography (SD-OCT) in young children with nystagmus, to determine its sensitivity and specificity in classifying foveal abnormalities, and to investigate its potential to determine the cause of infantile nystagmus with the use of foveal(More)
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)
IMPORTANCE Understanding the development of common strabismus is important in locating "at-risk" populations and implementing optimal treatment. This systematic review will bring together reported genetic and environmental risk factors for common strabismus to reveal relationships between risk factors and guide future research. OBJECTIVE To identify known(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 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)
PURPOSE To characterize in vivo anatomic abnormalities of the iris in albinism compared with healthy controls using anterior segment optical coherence tomography (AS-OCT) and to explore the diagnostic potential of this technique for albinism. We also investigated the relationship between iris abnormalities and other phenotypical features of albinism. (More)