Living with nystagmus: a qualitative study

McLean, Rebecca J.; Windridge, Kate C.; Gottlob, Irène

doi:10.1136/bjophthalmol-2011-301183

Cited by 54 publications

(32 citation statements)

References 21 publications

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“…Nystagmus has an estimated prevalence of 2.4 in 1000 1 and is associated with significant negative social stigma and poor visual function scores. 2, 3 IN is a genetically heterogeneous disorder that can arise due to variants of genes involved in retinal and brain development. Identifying the underlying cause of IN can be challenging due to the diverse range of genetic disorders associated with it.…”

Section: Introductionmentioning

confidence: 99%

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

et al. 2017

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Infantile nystagmus (IN) is a genetically heterogeneous disorder arising from variants of genes expressed within the developing retina and brain. IN presents a diagnostic challenge and patients often undergo numerous investigations. We aimed to develop and assess the utility of a next-generation sequencing (NGS) panel to enhance the diagnosis of IN. We identified 336 genes associated with IN from the literature and OMIM. NimbleGen Human custom array was used to enrich the target genes and sequencing was performed using HiSeq2000. Using reference genome material (NA12878), we show the sensitivity (98.5%) and specificity (99.9%) of the panel. Fifteen patients with familial IN were sequenced using the panel. Two authors were masked to the clinical diagnosis. We identified variants in 12/15 patients in the following genes: FRMD7 (n=3), CACNA1F (n=2), TYR (n=5), CRYBA1 (n=1) and TYRP1 (n=1). In 9/12 patients, the clinical diagnosis was consistent with the genetic diagnosis. In 3/12 patients, the results from the genetic diagnoses (TYR, CRYBA1 and TYRP1 variants) enabled revision of clinical diagnoses. In 3/15 patients, we were unable to determine a genetic diagnosis. In one patient, copy number variation analysis revealed a FRMD7 deletion. This is the first study establishing the clinical utility of a diagnostic NGS panel for IN. We show that the panel has high sensitivity and specificity. The genetic information from the panel will lead to personalised diagnosis and management of IN and enable accurate genetic counselling. This will allow development of a new clinical care pathway for IN.

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Section: Introductionmentioning

confidence: 99%

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

et al. 2017

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“…Nystagmus has an estimated prevalence of 2.4 in 1000 (1) and is associated with significant negative social stigma and poor visual function scores (2,3). The pathophysiology of this disorder is unclear, although numerous hypotheses have been put forward.…”

Section: Introductionmentioning

confidence: 99%

Abnormal retinal development associated with FRMD7 mutations

Thomas

Crosier

Lindsay

et al. 2014

Human Molecular Genetics

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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, we performed in situ hybridization studies in human embryonic and fetal stages (35 days post-ovulation to 9 weeks post-conception). We show a dynamic retinal expression pattern of FRMD7 during development. We observe expression within the outer neuroblastic layer, then in the inner neuroblastic layer and at 9 weeks post-conception a bilaminar expression pattern. Expression was also noted within the developing optic stalk and optic disk. We identified a large cohort of IIN patients (n = 100), and performed sequence analysis which revealed 45 patients with FRMD7 mutations. Patients with FRMD7 mutations underwent detailed retinal imaging studies using ultrahigh-resolution optical coherence tomography. The tomograms were compared with a control cohort (n = 60). The foveal pit was significantly shallower in FRMD7 patients (P < 0.0001). The optic nerve head morphology was abnormal with significantly decreased optic disk area, retinal nerve fiber layer thickness, cup area and cup depth in FRMD7 patients (P < 0.0001). This study shows for the first time that abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus.

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“…Research involving subjective accounts of vision loss has often focused on quality-of-life issues following eye surgery or onset of vision impairment, but most has adopted structured or semistructured interviews 27,28. While clearly a resource-heavy methodology, the use of in-depth, open-ended, participant-led interview and an analytic approach based on established methods of narrative inquiry11,18,29,30 and documentary-filmmaking practices can enable the researcher to access aspects of the participant’s experience that are unlikely to be revealed through conventional interviewing techniques or mediating questionnaires.…”

Section: Discussionmentioning

confidence: 99%

Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness

Cammack

Whight

Cross

et al. 2016

OPTH

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An appreciation of the relation between laboratory measures of visual deficit and everyday perceptual experience is fundamental to understanding the impact of a visual condition on patients and so to a fuller characterization of the disorder. This study aims to understand better the interpretative processes by which modified sensory information is perceived by a patient with congenital stationary night blindness and the adaptive strategies that are devised to deal with their measurable visual loss. Psychophysical measurements of temporal resolution, spectral sensitivity, and color discrimination were conducted on a 78-year-old male patient with the condition, who was also interviewed at length about the ways in which his diagnosis affected his daily life. Narrative analysis was employed to identify the relation between his subjective perceptual experiences and functional deficits in identifiable components of the visual system. Psychophysical measurements indicated a complete lack of rod perception and substantially reduced cone sensitivity. Two particular effects of this visual loss emerged during interviews: 1) the development of navigational techniques that relied on light reflections and point sources of light and 2) a reluctance to disclose the extent of visual loss and resulting lifelong psychosocial consequences. This study demonstrates the valuable complementary role that rich descriptive patient testimony can play, in conjunction with laboratory and clinical measurements, in more fully characterizing a disorder and in reaching a more complete understanding of the experience of vision loss. It also evidences the particular suitability of filmmaking techniques as a means of accessing and communicating subjective patient experience.

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Living with nystagmus: a qualitative study

Cited by 54 publications

References 21 publications

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Abnormal retinal development associated with FRMD7 mutations

Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness

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