Management of nystagmus in children: a review of the literature and current practice in UK specialist services

Self, James; Dunn, Matthew; Erichsen, Jonathan Thor; Gottlob, Irène; Griffiths, Helen; Harris, Christopher M.; Lee, Helena; Owen, Julie; Sanders, John H.; Shawkat, Fatima; Theodorou, Maria; Whittle, John

doi:10.1038/s41433-019-0741-3

Cited by 26 publications

(22 citation statements)

References 73 publications

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“…Self et al 26 emphasize the importance of a full clinical examination (possibly including electrophysiology) to differentiate between idiopathic IN and nystagmus with an underlying cause. Since children with DS presumably also carry a risk for an underlying cause for their nystagmus, it is clear that a full investigation is called for.…”

Section: Discussionmentioning

confidence: 99%

Visual and Refractive Status of Children With Down's Syndrome and Nystagmus

Zahidi

McIlreavy

Erichsen

et al. 2022

Invest. Ophthalmol. Vis. Sci.

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Purpose Children with Down's syndrome (DS) are known to have poorer visual acuity than neurotypical children. One report has shown that children with DS and nystagmus also have poor acuity when compared to typical children with nystagmus. What has not been established is the extent of any acuity deficit due to nystagmus and whether nystagmus affects refractive error within a population with DS. Methods Clinical records from the Cardiff University Down's Syndrome Vision Research Unit were examined retrospectively. Binocular visual acuity and refraction data were available for 50 children who had DS and nystagmus and 176 children who had DS but no nystagmus. Data were compared between the two groups and with published data for neurotypical children with nystagmus. Results The study confirms the deficit in acuity in DS, compared to neurotypical children, of approximately 0.2 logMAR and shows a deficit attributable to nystagmus of a further 0.2 logMAR beyond the first year of life. Children with both DS and nystagmus clearly have a significant additional impairment. Children with DS have a wide range of refractive errors, but nystagmus increases the likelihood of myopia. Prevalence and axis direction of astigmatism, on the other hand, appear unaffected by nystagmus. Conclusions Nystagmus confers an additional visual impairment on children with DS and must be recognized as such by families and educators. Children with both DS and nystagmus clearly need targeted support.

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Section: Discussionmentioning

confidence: 99%

Visual and Refractive Status of Children With Down's Syndrome and Nystagmus

Zahidi

McIlreavy

Erichsen

et al. 2022

Invest. Ophthalmol. Vis. Sci.

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“…A common presenting sign of early-onset retinal dystrophies is nystagmus, and in many cases, a glance at the fundus can appear normal. SD-OCT of the macula is helpful in identifying foveal hypoplasia and other retinal abnormalities ( Self et al, 2020 ). Electrodiagnostic tests including ERG and VEP are extremely useful, especially in young children, in assessing the integrity of the retina and visual pathway as they aid in identification of post-retinal pathology such as intracranial chiasmal misrouting seen in albinism ( Self et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

“…SD-OCT of the macula is helpful in identifying foveal hypoplasia and other retinal abnormalities ( Self et al, 2020 ). Electrodiagnostic tests including ERG and VEP are extremely useful, especially in young children, in assessing the integrity of the retina and visual pathway as they aid in identification of post-retinal pathology such as intracranial chiasmal misrouting seen in albinism ( Self et al, 2020 ). Oscillatory eye movements that are not visible to the naked eye or occur transiently can be objectively visualized through eye movement recordings (EMRs).…”

Section: Introductionmentioning

confidence: 99%

Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics

et al. 2022

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Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic challenge as underlying pre-symptomatic “multisystem” disorders varying from benign to life-threatening should first be ruled out before nystagmus can be labeled as idiopathic. A multidisciplinary approach including multimodal ocular investigations and next-generation sequencing with whole-genome sequencing (WGS) or targeted gene panel testing is required to delineate the exact etiology. We report the clinical and genetic outcomes of 22 patients, from 22 unrelated families of diverse ethnicities, with IIN seen in the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between 2016 and 2022. Thirty-six percent (8/22) received a confirmed molecular diagnosis with eight mutations identified in two genes (seven in FRMD7 including one novel variant c.706_707del; p. [Lys236Alafs*66], and one in GPR143). This study expands the mutational spectrum of IIN and highlights the significant role of an integrated care pathway and broader panel testing in excluding underlying pathologies.

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“…A latent component may be seen with an increase in intensity on monocular occlusion. ( Self et al 2020 ).…”

Section: Introductionmentioning

confidence: 99%

Nystagmus in Down Syndrome – a Retrospective Notes Review

Oladiwura

Shweikh

Roberts

et al. 2022

British and Irish Orthoptic Journal

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Introduction: Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. Our study aims to characterise the clinical features of patients with DS and nystagmus.Methods: A retrospective medical-records review was conducted of all patients with a diagnosis of DS and nystagmus seen at Moorfields Eye Hospital over a ten-year period.Results: Fifty-one subjects were identified, with complete data in 48. The mean age at presentation was 5.1 years (range 0-26 years). The mean binocular LogMAR visual acuity was 0.55(95%CI 0.53-0.57), mean refractive error was -1.8 Dioptre Sphere, DS (95%CI -5.251.63) with -1.2 Dioptre Cylinder, DC (95%CI -1.6-0.7). Ocular misalignment was found in 50% of patients. A diagnosis of Fusion Maldevelopment Nystagmus Syndrome (FMNS) was made in 6.3%, Infantile Nystagmus Syndrome (INS) in 8.4% and ABducting nystagmus/Inter-Nuclear Ophthalmoplegia (INO) in 2.1%. The descriptive term 'Manifest Horizontal Nystagmus' (MNH) was used in the majority, highlighting the difficulties in clinically differentiating the subtypes of nystagmus in DS. Eleven patients had associated cataract. Additional diagnoses unrelated to DS were made in 10.4%. Conclusions:The most frequent type of nystagmus in our cohort was 'presumed' INS. This study highlights the importance of differentiating between FMNS and INS (with a latent component), so that further investigations can be performed as appropriate. Almost 25% had associated cataract, and a further 10% other diagnoses un-associated to DS. Despite INS being known to be associated with DS, further investigations may be required in a small subset with true INS after careful clinical assessment and use of eye movement recordings (where available).

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Management of nystagmus in children: a review of the literature and current practice in UK specialist services

Cited by 26 publications

References 73 publications

Visual and Refractive Status of Children With Down's Syndrome and Nystagmus

Visual and Refractive Status of Children With Down's Syndrome and Nystagmus

Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics

Nystagmus in Down Syndrome – a Retrospective Notes Review

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