Macula halo syndrome

Macula halo syndrome Int Ophthalmol https://doi.org/10.1007/s10792-018-0939-6 CASE REP O RT . . . Ismail Umut Onur Memhet Fatih As¸ula Cansu Ekinci Meral Mert Received: 16 August 2017 / Accepted: 2 May 2018 Springer Science+Business Media B.V., part of Springer Nature 2018 Abstract granular depositions were detected in the parafoveal Introduction Niemann–Pick disease (NPD) is a retina on both eyes. Optical coherence tomography hereditary lysosomal storage disorder in which muta- (OCT) revealed thin hyperreflective band correspond- tions in the sphingomyelin phosphodiesterase gene ing to depositions located in the parafoveolar inner leads to partial or complete deficiency of the sphin- retina. Microperimeter showed slight depression in gomyelinase enzyme. Niemann–Pick Type B is the retinal sensitivity, which was more pronounced par- intermediate form associated with hep- ticularly on perifovea rather than parafovea. atosplenomegaly, foam cells in the bone marrow, Conclusions Challenge to identify the NPD subtype hyperlipidemia and diffuse pulmonary infiltrates, of this case is associated with phenotypic character- which is generally diagnosed in late adolescence. istics on a wider spectrum that overlap the currently Central nervous system is not affected, and some cases described subtypes. may display macular halo. Case A 45-year-old female seen in ophthalmology Keywords Macula halo  Niemann–Pick clinic for the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png International Ophthalmology Springer Journals
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Publisher
Springer Netherlands
Copyright
Copyright © 2018 by Springer Science+Business Media B.V., part of Springer Nature
Subject
Medicine & Public Health; Ophthalmology
ISSN
0165-5701
eISSN
1573-2630
D.O.I.
10.1007/s10792-018-0939-6
Publisher site
See Article on Publisher Site

Abstract

Int Ophthalmol https://doi.org/10.1007/s10792-018-0939-6 CASE REP O RT . . . Ismail Umut Onur Memhet Fatih As¸ula Cansu Ekinci Meral Mert Received: 16 August 2017 / Accepted: 2 May 2018 Springer Science+Business Media B.V., part of Springer Nature 2018 Abstract granular depositions were detected in the parafoveal Introduction Niemann–Pick disease (NPD) is a retina on both eyes. Optical coherence tomography hereditary lysosomal storage disorder in which muta- (OCT) revealed thin hyperreflective band correspond- tions in the sphingomyelin phosphodiesterase gene ing to depositions located in the parafoveolar inner leads to partial or complete deficiency of the sphin- retina. Microperimeter showed slight depression in gomyelinase enzyme. Niemann–Pick Type B is the retinal sensitivity, which was more pronounced par- intermediate form associated with hep- ticularly on perifovea rather than parafovea. atosplenomegaly, foam cells in the bone marrow, Conclusions Challenge to identify the NPD subtype hyperlipidemia and diffuse pulmonary infiltrates, of this case is associated with phenotypic character- which is generally diagnosed in late adolescence. istics on a wider spectrum that overlap the currently Central nervous system is not affected, and some cases described subtypes. may display macular halo. Case A 45-year-old female seen in ophthalmology Keywords Macula halo  Niemann–Pick clinic for the

Journal

International OphthalmologySpringer Journals

Published: May 29, 2018

References

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