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Unilateral Exudative Retinal Lesion in a Previously Healthy Female Teenager

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

A 15-year-old girl presented with a 2-month history of decreased vision and a dark spot in the central vision in her right eye. She had a history of optometric examinations with no known ocular disease. Visual acuity with correction was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination of both eyes was unremarkable, and the retina in the left eye appeared normal. In the right eye, there was an area of superior macular whitening with associated intraretinal hemorrhages and exudates. Fluorescein angiography showed abnormally dilated and tortuous retinal vessels, irregular capillary branching patterns, and bulblike telangiectasis with late leakage in the superior macula. Optical coherence tomography showed disorganized and hyperreflective inner retinal thickening (Figure, A) and intraretinal and subretinal fluid in the central macula. On review of systems, the patient noted a long-standing growth on her cheek, which on examination was a 4 × 3-mm exophytic, brownish-red vascular papule (Figure, B), as well as a history of lightly pigmented patches of skin and multiple subungual fibromas on her toes. Systemic blood pressure was normal.

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A 15-year-old girl presented with a 2-month history of decreased vision and a dark spot in the central vision in her right eye. She had a history of optometric examinations with no known ocular disease. Visual acuity with correction was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination of both eyes was unremarkable, and the retina in the left eye appeared normal. In the right eye, there was an area of superior macular whitening with associated intraretinal hemorrhages and exudates. Fluorescein angiography showed abnormally dilated and tortuous retinal vessels, irregular capillary branching patterns, and bulblike telangiectasis with late leakage in the superior macula. Optical coherence tomography showed disorganized and hyperreflective inner retinal thickening (Figure, A) and intraretinal and subretinal fluid in the central macula. On review of systems, the patient noted a long-standing growth on her cheek, which on examination was a 4 × 3-mm exophytic, brownish-red vascular papule (Figure, B), as well as a history of lightly pigmented patches of skin and multiple subungual fibromas on her toes. Systemic blood pressure was normal.

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Article Information

Corresponding Author: J. Peter Campbell, MD, MPH, Casey Eye institute, Oregon Healthy & Science University, 545 SW Campus Dr, Portland, OR 97239 (campbelp@ohsu.edu).

Published Online: July 27, 2023. doi:10.1001/jamaophthalmol.2023.3195

Conflict of Interest Disclosures: Dr Campbell reported grants from Genentech, National Eye Institute, and Research to Prevent Blindness; consulting fees from Boston AI (ended 2021); and other from Siloam Vision (equity owner) outside the submitted work. No other disclosures were reported.

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

References
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Crino  PB , Nathanson  KL , Henske  EP .  The tuberous sclerosis complex.   N Engl J Med. 2006;355(13):1345-1356. doi:10.1056/NEJMra055323PubMedGoogle ScholarCrossref
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Nyboer  JH , Robertson  DM , Gomez  MR .  Retinal lesions in tuberous sclerosis.   Arch Ophthalmol. 1976;94(8):1277-1280. doi:10.1001/archopht.1976.03910040149003PubMedGoogle ScholarCrossref
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Northrup  H , Aronow  ME , Bebin  EM ,  et al; International Tuberous Sclerosis Complex Consensus Group.  Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations.   Pediatr Neurol. 2021;123:50-66. doi:10.1016/j.pediatrneurol.2021.07.011PubMedGoogle ScholarCrossref
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Kinder  RSL .  The ocular pathology of tuberous sclerosis.   J Pediatr Ophthalmol Strabismus. 1972;9:106-107. doi:10.3928/0191-3913-19720501-13Google ScholarCrossref
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Allan  KC , Hua  HU , Singh  AD , Yuan  A .  Rapid symptomatic and structural improvement of a retinal astrocytic hamartoma in response to anti-VEGF therapy: a case report.   Am J Ophthalmol Case Rep. 2022;27:101606. doi:10.1016/j.ajoc.2022.101606PubMedGoogle ScholarCrossref
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Rowley  SA , O’Callaghan  FJ , Osborne  JP .  Ophthalmic manifestations of tuberous sclerosis: a population based study.   Br J Ophthalmol. 2001;85(4):420-423. doi:10.1136/bjo.85.4.420PubMedGoogle ScholarCrossref
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Mennel  S , Meyer  CH , Peter  S , Schmidt  JC , Kroll  P .  Current treatment modalities for exudative retinal hamartomas secondary to tuberous sclerosis: review of the literature.   Acta Ophthalmol Scand. 2007;85(2):127-132. doi:10.1111/j.1600-0420.2006.00781.xPubMedGoogle ScholarCrossref
AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 credit toward the CME of the American Board of Surgery’s Continuous Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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