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Eye Findings in X-linked Lymphoproliferative Disorder

Nallasamy, Sudha MD*; Eagle, Ralph C Jr MD; Rorke-Adams, Lucy MD; Nichols, Kim E MD§; Brucker, Alexander J MD*

doi: 10.1097/IAE.0b013e318206cd67
Clinicopathologic Correlation
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Background: X-linked lymphoproliferative disorder typically presents as an Epstein-Barr virus-specific immune defect with a poor prognosis. Herein we present the clinical and pathologic findings for the first known case of X-linked lymphoproliferative disorder with visual symptoms at initial presentation.

Methods: Retrospective chart review, clinicopathologic correlation (brain biopsy and postmortem brain and eye tissue), and literature review.

Results: An 18-year-old boy had a unique presentation of X-linked lymphoproliferative disorder with visual symptoms and retinal findings. He subsequently developed central nervous system vasculitis. He never had evidence of Epstein-Barr virus infection during his clinical course, but in situ hybridization was positive in scattered cells in the brain postmortem. Eye pathologic examination at autopsy showed ischemic changes, but no inflammation.

Conclusion: When a young patient presents with cotton wool spots, a thorough workup must be done, and immunologic disorders should be considered in the differential diagnosis. X-linked lymphoproliferative disorder-associated eye findings may not always be associated with Epstein-Barr virus infection and, as demonstrated by this case, can be indicative of an underlying vasculitic process.

An 18-year-old boy with X-linked lymphoproliferative disorder presented with a unique constellation of visual symptoms and retinal findings. He subsequently developed fatal central nervous system vasculitis. He never demonstrated evidence of Epstein-Barr virus infection during his clinical course. Eye pathologic examination at autopsy showed ischemic changes, but no inflammation. Ocular pathologic examination is a rare manifestation of X-linked lymphoproliferative disorder and can be indicative of serious underlying vasculitis.

From the *Scheie Eye Institute, and Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; †Department of Pathology, Wills Eye Institute, Philadelphia, Pennsylvania; ‡Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and §Pediatric Hereditary Cancer Predisposition Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Supported in part by the Noel T. and Sara L. Simmons Endowment for Ophthalmic Pathology, Wills Eye Institute (R. C. Eagle).

The authors have no financial interest or conflicts of interest.

Reprint requests: Alexander J. Brucker, MD, Scheie Eye Institute, Division of Retina & Vitreous, University of Pennsylvania School of Medicine, 51 North 39th Street, Philadelphia, PA 19104; e-mail: ajbrucke@mail.med.upenn.edu

© The Ophthalmic Communications Society, Inc.