INTERNATIONAL OPHTHALMOLOGY, cilt.39, ss.1391-1395, 2019 (SCI İndekslerine Giren Dergi)
IntroductionNiemann-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.CaseA 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.ConclusionsChallenge to identify the NPD subtype of this case is associated with phenotypic characteristics on a wider spectrum that overlap the currently described subtypes.