The Prevalence of Nystagmus: The Leicestershire Nystagmus Survey

Sarvananthan, N.; Surendran, M.; Roberts, Eryl O.; Jain, Sunila; Stiefmeier, Thomas; Shah, Nitant A; Proudlock, Frank A; Thompson, John R.; McLean, Rebecca J.; Degg, C.; Woodruff, Geoffrey; Gottlob, Irène

doi:10.1167/iovs.09-3486

Cited by 173 publications

(142 citation statements)

References 33 publications

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“…The prevalence of nystagmus in the general population has been reported at 0.24%. 59 King et al 56 observed a prevalence of 5.4% and Maino et al 58 reported a prevalence of 13% in children with FXS.…”

Section: Ocular Disordersmentioning

confidence: 99%

Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

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Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known singlegene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families. Pediatrics 2014;134:995-1005

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Section: Ocular Disordersmentioning

confidence: 99%

Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

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“…ICN has been found to be the most common type of nystagmus, and the prevalence of ICN is 1.9/10 000 in Leicestershire and Rutland, UK (Sarvananthan et al, 2009). Unlike "sensory defect nystagmus", ICN is independent of any other visual or neurological abnormality.…”

Section: Introductionmentioning

confidence: 99%

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Song

Chen

Sun

et al. 2013

J. Zhejiang Univ. Sci. B

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Abstract:Objective: To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN). Methods: Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products. Results: We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.782G>C (p.R261G) in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls. Conclusions: Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

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“…2 The most common cause of congenital nystagmus seems to be mutations of the X-linked FRMD7 gene (NYS1), which also have been detected by us and others in China. 4 Mutations in the GPR143 gene have been found to be responsible for another X-linked ocular albinism and nystagmus (NYS6).…”

Section: Introductionmentioning

confidence: 87%

“…1 In fact, approximately half of cases of infantile nystagmus are accompanied by structural or electrophysiological derangements involving central foveal vision in both eyes. 2 For example, foveal hypoplasia and presenile cataract syndrome (OMIM 136520) or oculocutaneous albinism (OMIM 203100), which are caused by mutations in the PAX6 or the SLC38A8 gene, respectively, may be accompanied by decreased visual acuity and secondary nystagmus.…”

Section: Introductionmentioning

confidence: 99%