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

Bertsch, Morgan; Floyd, Michael S.; Kehoe, Taylor; Pfeifer, Wanda; Drack, Arlene V.

doi:10.1016/j.jaapos.2017.07.099

Cited by 4 publications

(8 citation statements)

References 26 publications

(27 reference statements)

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“…MRI and a full neurometabolic and genetic work‐up are fundamental to achieve the diagnosis in these children. Electrophysiology should be performed before MRI in infants without neurological signs, in contrast with the practice reported by Bertsch et al 17 The authors showed that, in infantile nystagmus, MRI was usually performed as the first instrumental test.…”

Section: Discussionmentioning

confidence: 96%

Infantile nystagmus without overt eye abnormality: Early features and neuro‐ophthalmological diagnosis

Suppiej

Ceccato²,

Lonardi³

et al. 2022

Develop Med Child Neuro

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To analyse the neuro-ophthalmological data of children referred for further work-up of infantile nystagmus where ophthalmological evaluation had not achieved a diagnosis. METHOD: We retrospectively reviewed medical records of patients presenting with infantile nystagmus at our institution between 2007 and 2019. Inclusion criteria were onset before 6 months of age, availability of complete ophthalmic examination, visual electrophysiological tests, and neurological examination. Children with a previous definite ophthalmological diagnosis at onset and those with uncertain nystagmus onset age were not recruited. RESULTS:Out of 142 infants (mean age at nystagmus onset 3.6 mo, SD 1.7, range 0-6 mo; 56 females, 86 males), 23% had neurological nystagmus, 7% mixed neurological and sensory nystagmus, 48% sensory defect, and 22% idiopathic infantile nystagmus. The neurological diagnoses were inborn errors of metabolism, white matter genetic disorders, and brain malformations. The prevalent diagnosis in the sensory defect subgroup was retinal dystrophy.

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Section: Discussionmentioning

confidence: 96%

Infantile nystagmus without overt eye abnormality: Early features and neuro‐ophthalmological diagnosis

Suppiej

Ceccato²,

Lonardi³

et al. 2022

Develop Med Child Neuro

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“…This allowed rapid classification though gave very little guidance to management and prognosis, so more recent systems differentiate by underlying pathology. A thorough history, opthalmologic and general examination, and ancillary testing (such as visual evoked potentials (VEP) and MRI) can all be used to help delineate the underlying disease process . Recent studies show that diagnostic yield is further enhanced (up to 85%) by also performing genetic testing for infants with nystagmus .…”

Section: Discussionmentioning

confidence: 99%

“…Answer: c. According to the results of a study by Bertsch et al . where 284 patients with infantile nystagmus were investigated the answer is c) at 56%.…”

Section: Multiple Choice Questionsmentioning

confidence: 99%

Case of congenital nystagmus

Nichols

2018

J Paediatrics Child Health

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A 7-month-old boy presented to paediatric outpatients with 5 months of variable horizontal nystagmus and 2 months of head bobbing. Vision appeared to be normal with the boy being able to pick up small objects, transfer them between his hands, and respond appropriately to faces. Growth and development were normal, and past history was unremarkable, being born at full Chiasmal misroutingAlbinism presents with nystagmus which is similar to IIN although examination is abnormal with iris transillumination, retinal hypopigmentation and optic nerve hypoplasia. 3 The phenotype may or may not be associated with cutaneous albinism. Abnormal crossing is seen on VEP and foveal hypoplasia on OCT. 4 Inheritance can be X-linked or autosomal recessive. Achiasma is associated with a seesaw nystagmus and requires MRI AE VEP for diagnosis. 1

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“…Apresentava um bom desenvolvimento psicomotor e estaturo-ponderal, sem outras alterações de destaque no exame objetivo, em particular na anatomia ocular visualizável sem instrumentação própria. Uma vez que o nistagmo não apresentava características preocupantes (Tabela 1), 1,[4][5]9,[11][12][13][14] os pais foram tranquilizados, tendo-lhes sido explicado o quadro clínico, mas ressalvando que seria necessária uma avaliação oftalmológica mais especializada para excluir, dentro do possível, eventuais alterações patológicas.…”

Section: Descrição Do Casounclassified

“…5 Na Tabela 2 encontram-se identificados os vários tipos de nistagmo infantil, bem como algumas das suas principais características. 1,[4][5]6,[8][9][11][12][13][17][18][19] De notar que a classificação do nistagmo infantil não é uniforme na bibliografia consultada. Assim, optou-se por uma categorização relativamente simples que evidencia o substrato patológico, isto é, o conjunto de patologias que se associam ao nistagmo, ainda que possam não constituir causa direta do mesmo.…”

Section: Comentáriounclassified

Nistagmo infantil: uma condição inócua ou algo mais? A propósito de um caso clínico

Margato

Sebastião

2020

RPMGF

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INTRODUÇÃOO nistagmo é uma entidade clínica caracterizada por oscilações rítmicas e involuntárias dos olhos. Estes movimentos podem ser sacádicos, com uma fase de desvio lento do olhar sucedida de um movimento rápido de reposicionamento do olho na posição primária; pendulares, nos quais ocorre um desvio do olho e posterior retorno à posição inicial de forma mais lenta; ou uma combinação de ambos. [1][2][3] Existem diferentes nomenclaturas propostas para caracterizar esta condição. Neste artigo optou-se por uma classificação mais simples, dividindo globalmen-

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

Cited by 4 publications

References 26 publications

Infantile nystagmus without overt eye abnormality: Early features and neuro‐ophthalmological diagnosis

Infantile nystagmus without overt eye abnormality: Early features and neuro‐ophthalmological diagnosis

Case of congenital nystagmus

Nistagmo infantil: uma condição inócua ou algo mais? A propósito de um caso clínico

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