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29.05.2018 | Case Report

Macula halo syndrome

Zeitschrift:
International Ophthalmology
Autoren:
İsmail Umut Onur, Memhet Fatih Aşula, Cansu Ekinci, Meral Mert
Wichtige Hinweise

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1007/​s10792-018-0939-6) contains supplementary material, which is available to authorized users.

Abstract

Introduction

Niemann–Pick disease (NPD) is a hereditary lysosomal storage disorder in which mutations in the sphingomyelin phosphodiesterase gene leads to partial or complete deficiency of the sphingomyelinase enzyme. Niemann–Pick Type B is the intermediate form associated with hepatosplenomegaly, foam cells in the bone marrow, hyperlipidemia and diffuse pulmonary infiltrates, which is generally diagnosed in late adolescence. Central nervous system is not affected, and some cases may display macular halo.

Case

A 45-year-old female seen in ophthalmology clinic for the examination of the eyes. Extraocular motility was normal bilaterally, and the visual acuity was 20/25 for both eyes. Biomicroscopic examination revealed faint corneal haze bilaterally, Circular pale granular depositions were detected in the parafoveal retina on both eyes. Optical coherence tomography (OCT) revealed thin hyperreflective band corresponding to depositions located in the parafoveolar inner retina. Microperimeter showed slight depression in retinal sensitivity, which was more pronounced particularly on perifovea rather than parafovea.

Conclusions

Challenge to identify the NPD subtype of this case is associated with phenotypic characteristics on a wider spectrum that overlap the currently described subtypes.

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Zusatzmaterial
Supplementary material 1 (DOCX 204 kb)
10792_2018_939_MOESM1_ESM.docx
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