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
International Ophthalmology – Springer Journals
Published: May 29, 2018
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera