Optical coherence tomography findings in a patient with type 1 sialidosis

Hannah M. Kersten; Richard H. Roxburgh; Helen V. Danesh-Meyer; David O. Hutchinson

doi:10.1016/j.jocn.2016.02.015

Optical coherence tomography findings in a patient with type 1 sialidosis

Hannah M. Kersten, Richard H. Roxburgh, Helen V. Danesh-Meyer, David O. Hutchinson

Vision Sciences

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

Abstract

Type 1 sialidosis is a metabolic storage disorder characterised by the accumulation of sialylated oligosaccharides. The condition is also known as macular cherry-red spot and myoclonus syndrome due to the characteristic macular appearance in affected individuals. This case outlines the presentation of a patient with type 1 sialidosis, including ophthalmological assessment with retinal photography and spectral domain optical coherence tomography (OCT). OCT scans showed thickening of the perimacular and peripapillary retinal nerve fibre layer, thought to be due to the abnormal accumulation of metabolic products. The cherry-red spot appearance is due to the normal appearing macula being seen in contrast to the abnormally pale surrounding, thickened retinal nerve fibre layer.

Original language	English
Pages (from-to)	199-201
Number of pages	3
Journal	Journal of Clinical Neuroscience
Volume	31
Early online date	1 Apr 2016
DOIs	https://doi.org/10.1016/j.jocn.2016.02.015
Publication status	Published - 1 Sept 2016

Keywords

cherry-red spot
myoclonus
optical coherence tomography
retina
sialidosis

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10.1016/j.jocn.2016.02.015

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title = "Optical coherence tomography findings in a patient with type 1 sialidosis",

abstract = "Type 1 sialidosis is a metabolic storage disorder characterised by the accumulation of sialylated oligosaccharides. The condition is also known as macular cherry-red spot and myoclonus syndrome due to the characteristic macular appearance in affected individuals. This case outlines the presentation of a patient with type 1 sialidosis, including ophthalmological assessment with retinal photography and spectral domain optical coherence tomography (OCT). OCT scans showed thickening of the perimacular and peripapillary retinal nerve fibre layer, thought to be due to the abnormal accumulation of metabolic products. The cherry-red spot appearance is due to the normal appearing macula being seen in contrast to the abnormally pale surrounding, thickened retinal nerve fibre layer.",

keywords = "cherry-red spot, myoclonus, optical coherence tomography, retina, sialidosis",

author = "Kersten, {Hannah M.} and Roxburgh, {Richard H.} and Danesh-Meyer, {Helen V.} and Hutchinson, {David O.}",

note = "Out of REF policy scope - online pub on 1-4-16 ET ",

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T1 - Optical coherence tomography findings in a patient with type 1 sialidosis

AU - Kersten, Hannah M.

AU - Roxburgh, Richard H.

AU - Danesh-Meyer, Helen V.

AU - Hutchinson, David O.

N1 - Out of REF policy scope - online pub on 1-4-16 ET

PY - 2016/9/1

Y1 - 2016/9/1

N2 - Type 1 sialidosis is a metabolic storage disorder characterised by the accumulation of sialylated oligosaccharides. The condition is also known as macular cherry-red spot and myoclonus syndrome due to the characteristic macular appearance in affected individuals. This case outlines the presentation of a patient with type 1 sialidosis, including ophthalmological assessment with retinal photography and spectral domain optical coherence tomography (OCT). OCT scans showed thickening of the perimacular and peripapillary retinal nerve fibre layer, thought to be due to the abnormal accumulation of metabolic products. The cherry-red spot appearance is due to the normal appearing macula being seen in contrast to the abnormally pale surrounding, thickened retinal nerve fibre layer.

AB - Type 1 sialidosis is a metabolic storage disorder characterised by the accumulation of sialylated oligosaccharides. The condition is also known as macular cherry-red spot and myoclonus syndrome due to the characteristic macular appearance in affected individuals. This case outlines the presentation of a patient with type 1 sialidosis, including ophthalmological assessment with retinal photography and spectral domain optical coherence tomography (OCT). OCT scans showed thickening of the perimacular and peripapillary retinal nerve fibre layer, thought to be due to the abnormal accumulation of metabolic products. The cherry-red spot appearance is due to the normal appearing macula being seen in contrast to the abnormally pale surrounding, thickened retinal nerve fibre layer.

KW - cherry-red spot

KW - myoclonus

KW - optical coherence tomography

KW - retina

KW - sialidosis

U2 - 10.1016/j.jocn.2016.02.015

DO - 10.1016/j.jocn.2016.02.015

M3 - Article

SN - 1532-2653

VL - 31

SP - 199

EP - 201

JO - Journal of Clinical Neuroscience

JF - Journal of Clinical Neuroscience

ER -

Optical coherence tomography findings in a patient with type 1 sialidosis

Abstract

Keywords

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