Neuro-ophthalmology of type 1 Chiari malformation

Abstract

Chiari malformation is a congenital deformity leading to herniation of cerebellar tonsils. Headache is a typical symptom of this condition, but patients with Chiari malformation often present with double vision and vertigo. Examination of eye movements in such patients often reveals nystagmus and strabismus. Eye movement deficits in the context of typical symptomatic presentation are critical clinical markers for the diagnosis of Chiari malformation. We will review eye movement deficits that seen in patients with type 1 Chiari malformation. We will then discuss the underlying pathophysiology and therapeutic options for such deficits.

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

“…In addition to their retinal disease, both affected patients were found to have Chiari malformations. Interestingly, vision phenotypes such as photophobia, vision loss and nystagmus have been reported as accompanying symptoms in some forms of Chiari malformations 57–60 . Unfortunately, despite evidence that Chiari malformations have a hereditable component 61–63 , the genes involved are not yet well defined 59, 64, 65 .…”

<p>Acute Visual Loss Secondary to Arnold Chiari Type I Malformation Completely Resolving After Decompressive Posterior Fossa Surgery</p>

“…Acquired comitant strabismus, divergence insufficiency or skew deviation are also common first manifestations in patients with minimal cerebellar tonsil herniation. 4 Although the most common presentation of CM-I is with occipital headache and neuro-ophthalmological findings, the association of audio-vestibular symptoms in such patients is not rare.…”

“…Visual symptoms are present in up to 80% of the patients and include nystagmus, strabismus and diplopia. 4 Eye movement deficits in the context of typical symptomatic presentation are critical clinical markers for the diagnosis of Chiari malformation. 3 Herein we describe a case of a patient with Arnold Chiari malformation type I with acute visual acuity deterioration as her main presenting ophthalmic symptom.…”

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

“…In addition to their retinal disease, both affected patients were found to have Chiari malformations. Interestingly, vision phenotypes such as photophobia, vision loss and nystagmus have been reported as accompanying symptoms in some forms of Chiari malformations [57][58][59][60] . Unfortunately, despite evidence that Chiari malformations have a hereditable component [61][62][63] , the genes involved are not yet well defined 59,64,65 .…”