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A White Lesion in the Retina

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

A 16-year-old girl presented with blurry vision. She had no other symptoms and was otherwise healthy with no medical history of any disease or surgeries. She was not taking any medications. Her family history was also unremarkable.

The patient’s best-corrected visual acuity was 20/20 OU, results of pupillary examination were normal without relative afferent pupillary defect, and results of the rest of the anterior segment examination were unremarkable. Posterior segment examination of the right eye revealed a slightly elevated, white, multicystic lesion approximately 3 disc diameters that was located inferior to the optic nerve (Figure 1). Results of examination of the left eye were unremarkable. The patient’s blurred vision was resolved with new eyeglasses.

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Retinal astrocytoma

B. Perform magnetic resonance imaging of the brain

This patient presented with a classic-appearing mulberry lesion compatible with a diagnosis of retinal astrocytoma, which is a rare benign glioma. Presence of retinal astrocytoma is associated with tuberous sclerosis complex (TSC) in some patients.1 All patients presenting with retinal astrocytoma should undergo magnetic resonance imaging (MRI) of the brain because of its association with TSC and its related central nervous system involvement.

Intravenous fluorescein angiography (choice A) may be helpful to better characterize the lesion and its vascularization but would not have distinguishing features that would help with diagnosis. Follow-up in 12 months (choice C) is appropriate in asymptomatic patients with otherwise normal results of examination, but further evaluation was required in this patient presenting with a retinal lesion. Fundus examination of the family members (choice D) might be suggested in patients with this autosomal dominant disorder; however, 65% of cases of TSC represent de novo mutations in patients with no family history; thus, a complete evaluation of this patient was necessary.2

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Article Information

Corresponding Author: Edward Margolin, MD, Department of Ophthalmology and Vision Sciences, University of Toronto, 801 Eglinton Ave W, Ste 301, Toronto, ON M5N 1E3, Canada (edmargolin@gmail.com).

Published Online: June 14, 2018. doi:10.1001/jamaophthalmol.2017.6819

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. Laila Alshafai, MD, University of Toronto, provided invaluable neuroradiologic advice and Mila Kisilevsky, MD, MSc, Polyclinic Eyecare, provided initial ophthalmic care to this patient. Drs Alshafai and Kisilevsky were not compensated for their contribution.

References
1.
Northrup  H, Krueger  DA; International Tuberous Sclerosis Complex Consensus Group.  Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.  Pediatr Neurol. 2013;49(4):243-254.PubMedGoogle ScholarCrossref
2.
Narayanan  V.  Tuberous sclerosis complex: genetics to pathogenesis.  Pediatr Neurol. 2003;29(5):404-409.PubMedGoogle ScholarCrossref
3.
Rowley  SA, O’Callaghan  FJ, Osborne  JP.  Ophthalmic manifestations of tuberous sclerosis: a population based study.  Br J Ophthalmol. 2001;85(4):420-423.PubMedGoogle ScholarCrossref
4.
Shields  CL, Benevides  R, Materin  MA, Shields  JA.  Optical coherence tomography of retinal astrocytic hamartoma in 15 cases.  Ophthalmology. 2006;113(9):1553-1557.PubMedGoogle ScholarCrossref
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Abdolrahimzadeh  S, Plateroti  AM, Recupero  SM, Lambiase  A.  An update on the ophthalmologic features in the phakomatoses.  J Ophthalmol. 2016;2016:3043026.PubMedGoogle ScholarCrossref
6.
Rovira  À, Ruiz-Falcó  ML, García-Esparza  E,  et al.  Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.  J Neurooncol. 2014;118(2):205-223.PubMedGoogle ScholarCrossref
7.
Krueger  DA, Northrup  H; International Tuberous Sclerosis Complex Consensus Group.  Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.  Pediatr Neurol. 2013;49(4):255-265.PubMedGoogle ScholarCrossref
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