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Eye findings in X-linked lymphoproliferative disorder
Sudha Nallasamy1, Ralph C Eagle, Lucy Rorke-Adams
1Scheie Eye Institute, and Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
Retina (Philadelphia, Pa.)
|March 12, 2011
Summary
X-linked lymphoproliferative disorder can manifest with visual symptoms and retinal findings, even without Epstein-Barr virus infection. This case highlights potential vasculitis as an underlying cause, emphasizing thorough immunologic workup.
Area of Science:
- Immunology
- Ophthalmology
- Neurology
Background:
- X-linked lymphoproliferative disorder (XLP) is an immune deficiency typically linked to Epstein-Barr virus (EBV) infection.
- XLP usually has a poor prognosis and often presents in childhood.
- Visual symptoms are uncommon initial presentations of XLP.
Observation:
- An 18-year-old male presented with initial visual symptoms and retinal findings.
- The patient later developed central nervous system (CNS) vasculitis.
- EBV infection was not detected during the patient's clinical course.
Findings:
- Postmortem brain tissue showed scattered cells positive for EBV via in situ hybridization.
- Ocular pathology revealed ischemic changes but no signs of inflammation.
- This case represents the first documented instance of XLP presenting with visual symptoms.
Implications:
- Ocular findings like cotton wool spots in young patients warrant comprehensive evaluation for immunologic disorders.
- Eye manifestations in XLP may occur independently of EBV infection.
- XLP-associated ocular findings can signal an underlying vasculitic process requiring prompt diagnosis and management.
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