Want to take quizzes and track your credits?
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.
Please finish quiz first before checking answer.
Read the answer below and download your certificate.
Read the discussion below and retake the quiz.
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.
Sign in to take quiz and track your certificates
JN Learning™ is the home for CME and MOC from the JAMA Network. Search by specialty or US state and earn AMA PRA Category 1 CME Credit™ from articles, audio, Clinical Challenges and more. Learn more about CME/MOC
Corresponding Author: Sami H. Uwaydat, MD, Jones Eye Institute, University of Arkansas for Medical Sciences, 4301 W Markham St, 523, Little Rock, AR 72205 (firstname.lastname@example.org).
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.
You currently have no searches saved.