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Retinal Deposits in a Young Woman

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

An African American woman in her 20s was referred to our retina clinic for evaluation of asymptomatic retinal deposits. Her medical history included a diagnosis of Gaucher disease (GD) since age 2 years, for which she was taking enzyme replacement therapy. She also had a history of avascular necrosis of the hip.

Visual acuity was corrected to 20/20 OU. Confrontation visual fields were full. Results of an ocular motility evaluation revealed slight restriction in upgaze. Intraocular pressures were within normal limits. Results of an anterior segment examination were normal in both eyes, with clear corneas and clear lenses. Results of a fundus examination revealed homogenous white flecks bilaterally throughout the superficial retina (Figure). No vitreous floaters were seen. Results of fundus autofluorescence were within normal limits, with areas of blocked autofluorescence corresponding to the larger white flecks. Results of spectral-domain optical coherence tomography (Zeiss Cirrus 5000) revealed the deposits to be mainly preretinal, with some intraretinal deposits in the ganglion cell layer, more prominent around the fovea (Figure). The patient denied having nyctalopia.

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Retinal deposits associated with type III GD

B. Obtain previous laboratory records documenting reduced glucocerebroside enzyme activity

The differential diagnosis of multiple flecklike retinal lesions includes infectious diseases (viral retinitis and bacterial or fungal chorioretinitis), inflammatory conditions (white dot syndromes), and primary hereditary retinal dystrophies (fundus albipunctatus and retinitis punctata albescens). In this patient, examining a vitreous sample for viral polymerase chain reaction (choice A) or administering an intravitreal injection of voriconazole (choice D) would not be the next recommended steps, as the patient did not have any sign of inflammation, making the diagnosis of a viral or fungal retinitis unlikely. In the absence of nyctalopia or visual field defects, an electroretinogram to rule out a hereditary retinal dystrophy was not indicated (choice C). Obtaining previous laboratory records that document reduced glucocerebroside enzyme activity (choice B) would support the diagnosis of GD, as this patient was receiving enzyme replacement therapy for more than 8 years, and current glucocerebroside enzyme activity would be normal.

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Article Information

Corresponding Author: Sami H. Uwaydat, MD, Jones Eye Institute, University of Arkansas for Medical Sciences, 4301 W Markham St, 523, Little Rock, AR 72205 (shuwaydat@uams.edu).

Published Online: March 8, 2018. doi:10.1001/jamaophthalmol.2017.5208

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
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Sawicka-Gutaj  N, Machaczka  M, Kulińska-Niedziela  I,  et al.  The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.  Ups J Med Sci. 2016;121(3):192-195.PubMedGoogle ScholarCrossref
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McNeill  A, Roberti  G, Lascaratos  G,  et al.  Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.  Mol Genet Metab. 2013;109(2):221-223.PubMedGoogle ScholarCrossref
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Stirnemann  J, Belmatoug  N, Camou  F,  et al.  A review of Gaucher disease pathophysiology, clinical presentation and treatments  [published online February 17, 2017].  Int J Mol Sci. 2017;18(2):E441.PubMedGoogle ScholarCrossref
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