Clinical and Oculomotor Characteristics of Albinism Compared to<i>FRMD7</i>Associated Infantile Nystagmus

Kumar, Anil; Gottlob, Irène; McLean, Rebecca J.; Stiefmeier, Thomas; Thomas, Mervyn G; Proudlock, Frank A

doi:10.1167/iovs.10-5685

Cited by 62 publications

(47 citation statements)

References 37 publications

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“…Because nystagmography is not routinely available in pediatric ophthalmology offices, and because the utility of such recordings for diagnosis in a large clinical sample have not been studied, this would be a fertile area for further research. A study comparing the nystagmus of albinism patients and FRMD7-related patients found that while there were group differences the differences between individuals were not diagnostic (25). In our study population we found essentially the same phenomenon ( Figure 8).…”

Section: Discussionsupporting

confidence: 77%

“…This type of nystagmus appears very similar to the nystagmus seen in albinism, however on nystagmography there are subtle differences (25). Patients with FRMD7 motor nystagmus have no iris transillumination defects and a fovea is present on OCT, although at least one report states the foveas may be thinner than normal (26).…”

Section: Motor Nystagmus (Idiopathic Infantile Nystagmus)-examplar Camentioning

confidence: 75%

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The clinical evaluation of infantile nystagmus: what to do first, and why

Bertsch¹,

Floyd²,

Kehoe³

et al. 2017

Journal of American Association for Pediatric Ophthalmology and

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Section: Discussionsupporting

confidence: 77%

Section: Motor Nystagmus (Idiopathic Infantile Nystagmus)-examplar Camentioning

confidence: 75%

The clinical evaluation of infantile nystagmus: what to do first, and why

Bertsch¹,

Floyd²,

Kehoe³

et al. 2017

Journal of American Association for Pediatric Ophthalmology and

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“…26 Thus, it is possible that multiple gaze control centres are affected in patients with PAX6 mutations, resulting in the nystagmus on various planes as compared with other patients with infantile nystagmus, who invariably have horizontal nystagmus. 27 Furthermore, the postnatal development of the visual system may be affected by afferent …”

Section: Discussionmentioning

confidence: 99%

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

et al. 2013

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Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C4G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The aminoacid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

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“…Nystagmus characteristics are usually captured in the following parameters: amplitude, frequency, intensity (i.e., amplitude × frequency), foveation characteristics and waveform types (Kumar et al, 2011). Longer foveation periods, i.e., the time during which a stable foveal image is present, are related to better visual acuity (Dell'osso and Daroff, 1975; Abadi and Worfolk, 1989; Bedell and Currie, 1993).…”

Section: Introductionmentioning

confidence: 99%

Training shortens search times in children with visual impairment accompanied by nystagmus

Huurneman

Boonstra

2014

Front. Psychol.

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Perceptual learning (PL) can improve near visual acuity (NVA) in 4–9 year old children with visual impairment (VI). However, the mechanisms underlying improved NVA are unknown. The present study compares feature search and oculomotor measures in 4–9 year old children with VI accompanied by nystagmus (VI+nys [n = 33]) and children with normal vision (NV [n = 29]). Children in the VI+nys group were divided into three training groups: an experimental PL group, a control PL group, and a magnifier group. They were seen before (baseline) and after 6 weeks of training. Children with NV were only seen at baseline. The feature search task entailed finding a target E among distractor E's (pointing right) with element spacing varied in four steps: 0.04°, 0.5°, 1°, and 2°. At baseline, children with VI+nys showed longer search times, shorter fixation durations, and larger saccade amplitudes than children with NV. After training, all training groups showed shorter search times. Only the experimental PL group showed prolonged fixation duration after training at 0.5° and 2° spacing, p's respectively 0.033 and 0.021. Prolonged fixation duration was associated with reduced crowding and improved crowded NVA. One of the mechanisms underlying improved crowded NVA after PL in children with VI+nys seems to be prolonged fixation duration.

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Clinical and Oculomotor Characteristics of Albinism Compared toFRMD7Associated Infantile Nystagmus

Cited by 62 publications

References 37 publications

The clinical evaluation of infantile nystagmus: what to do first, and why

The clinical evaluation of infantile nystagmus: what to do first, and why

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Training shortens search times in children with visual impairment accompanied by nystagmus

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