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Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis

Overview of attention for article published in BMC Ophthalmology, March 2016
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Title
Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis
Published in
BMC Ophthalmology, March 2016
DOI 10.1186/s12886-016-0201-9
Pubmed ID
Authors

Wenjun Zou, Xin Wang, Guohong Tian

Abstract

Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and optical coherence tomography (OCT) images of a juvenile patient who presented with vision decrease and was later confirmed with genetic sialidosis. A 13-year-old Chinese male presented with bilateral decreased vision over the past 2 years before his initial visit. Funduscopic examination revealed a macular cherry-red bilateral spot. FAF showed hyperreflective areas surrounding a central hyporeflective fovea in both eyes. OCT revealed increased reflectivity in the ganglion cell layer in both maculae without a definite boundary between the hyperreflective and normal areas. These findings suggested that lipofuscin had accumulated in the retinal ganglion cells, which is a distinctive ocular feature in metabolic central nervous system (CNS) disorders. He was later confirmed with genetic sialidosis. FAF and OCT images are very sensitive and useful techniques for diagnosing lysosomal storage disease of the CNS, and are helpful in evaluating the extent of damage in retinal ganglion cells.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 2 20%
Professor 1 10%
Student > Bachelor 1 10%
Lecturer 1 10%
Unknown 5 50%
Readers by discipline Count As %
Medicine and Dentistry 2 20%
Biochemistry, Genetics and Molecular Biology 1 10%
Unknown 7 70%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 March 2016.
All research outputs
#21,650,230
of 24,164,942 outputs
Outputs from BMC Ophthalmology
#2,163
of 2,605 outputs
Outputs of similar age
#262,674
of 304,661 outputs
Outputs of similar age from BMC Ophthalmology
#14
of 20 outputs
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