Optical coherence tomography features in a case of Type I sialidosis

Wang, I-Hua; Lin, Ting‐Yu; Kao, Shu-Ting

doi:10.4103/tjo.tjo_53_17

Cited by 16 publications

(6 citation statements)

References 13 publications

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“…When present, the macular cherry-red spot was also associated with thickening of the peripapillary retinal nerve fiber layer and increased reflectivity of GCL, as demonstrated by the OCT. These findings have been reported for other cases in the literature [15,16]. Lens opacity was detected in three patients, confirming the fact that it is also a common sign in this condition [16,17].…”

Section: Discussionsupporting

confidence: 88%

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

et al. 2020

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Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues. Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be distinguished according to age of onset, clinical features, and progression. Type 1 sialidosis is the milder, late-onset form, also known as non-dysmorphic sialidosis. It is commonly characterized by progressive myoclonus, ataxia, and a macular cherry-red spot. As a rare condition, the diagnosis is often only made after few years from onset, and the clinical management might prove difficult. Furthermore, the information in the literature on the long-term course is scarce. Case presentations: We describe a comprehensive clinical, neuroradiological, ophthalmological, and electrophysiological history of four unrelated patients affected by type 1 sialidosis. The long-term care and novel clinical and neuroradiological insights are discussed. Discussion and conclusions: We report the longest follow-up (up to 30 years) ever described in patients with type 1 sialidosis. During the course, we observed a high degree of motor and speech disability with preserved cognitive functions. Among the newest antiseizure medication, perampanel (PER) was proven to be effective in controlling myoclonus and tonic–clonic seizures, confirming it is a valid therapeutic option for these patients. Brain magnetic resonance imaging (MRI) disclosed new findings, including bilateral gliosis of cerebellar folia and of the occipital white matter. In addition, a newly reported variant (c.914G > A) is described.

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Section: Discussionsupporting

confidence: 88%

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

et al. 2020

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“…Consequently, the normal reddish appearance in the foveal pit appears to be cherry red spots. The characteristic features of macular cherry red spots in OCT and FAF are increased reflectivity of the RNFL and ganglion cell layer (Kersten, Roxburgh, Danesh‐Meyer, & Hutchinson, 2016; Michalewska et al., 2011; Wang, Lin, & Kao, 2017) and hyperautofluorescence surrounding the foveal pit, respectively. To date, only one case has described the fundus manifestation in FAF (Zou, Wang, & Tian, 2016).…”

Section: Discussionmentioning

confidence: 99%

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1

Han

Wang

et al. 2020

Molec Gen & Gen Med

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Background Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1. Methods It was a retrospective case series study. Four unrelated patients were enrolled. Comprehensive clinical evaluations and molecular genetic analysis of the NEU1 gene were performed. Results Three out of four patients presented progressive myoclonus epilepsy. The best‐corrected visual acuity ranged from 20/2000 to 20/25. Punctate cataracts were found in all of the patients. Distinct macular cherry red spots were observed in three patients by fundoscopy, and a relatively normal fundus was revealed in one patient. Optical coherence tomography (OCT) showed increased reflectivity of the nerve fiber and ganglion cell layers, and fundus autofluorescence (FAF) revealed hyperautofluorescent areas surrounding the fovea in all of the patients. Only superficial retinal vessels can be observed using OCT angiography; the deeper capillary plexus could not be observed. Visual evoked potential revealed varying degrees of decreased amplitude and/or prolonged latency of P100 or P2 waves. The most frequent sequence variant identified was c.544A>G (p.S182G) (NM_000434.3). Conclusions Our study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A>G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging.

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“…Sialidosis is a very rare disease, with an incidence of approximately 1/4,000,000 live births in the Caucasian population (3). Only five cases of type I sialidosis with macular cherry-red spots have been reported in the Chinese population (4)(5)(6). Moreover, secondary optic disc abnormalities have not been observed in Chinese patients.…”

Section: Introductionmentioning

confidence: 99%

Multimodal imaging findings in a patient with type I sialidosis with a compound heterozygous mutation in the NEU1 gene

Wan¹,

Lin²,

Jiang³

et al. 2021

Quant Imaging Med Surg

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Optical coherence tomography features in a case of Type I sialidosis

Cited by 16 publications

References 13 publications

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1

Multimodal imaging findings in a patient with type I sialidosis with a compound heterozygous mutation in the NEU1 gene

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