Human T-cell lymphotropic virus type-1 associated t-cell leukemia/lymphoma masquerading as necrotizing retinal vasculitis.
OBJECTIVE
To report a case of adult T-cell leukemia/lymphoma (ATL) presenting as a bilateral retinal vasculitis and diagnosed by molecular detection of a rearrangement in the T-cell receptor (TCR) and the presence of the human T-cell lymphotropic virus type 1 (HTLV-1) pol gene in the malignant lymphoid cells.


METHODS
Case report.


METHODS
Routine histologic and immunohistochemical analyses were performed on the retinal biopsy specimen before referral to the National Eye Institute. Lymphoid cells associated with granulomatous inflammation infiltrating the retina and surrounding retinal blood vessels were microdissected from the paraffin sections of the retinal biopsy specimen. The polymerase chain reaction (PCR) was performed using primers for the TCR gene and HTLV-1 pol and gag genes.


RESULTS
Microscopic examination showed a necrotizing granulomatous retinal vasculitis with a predominant T-cell infiltrate detected by immunohistochemistry. Molecular analysis demonstrated a clonal rearrangement of the TCR and the presence of the HTLV-1 pol gene in the microdissected lymphoid cells diagnostic of ATL.


CONCLUSIONS
Necrotizing retinitis and retinal vasculitis are rare manifestations of ATL. Human T-cell lymphotropic virus type 1 infection should be considered in the differential diagnosis of patients from endemic areas who have retinal vasculitis at presentation. This case further demonstrates the usefulness of microdissection and PCR for the diagnosis of ocular disease, including HTLV-1 infection.
Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Grace A
GA
Levy-Clarke
Ronald R
RR
Buggage
DeFen
D
Shen
Leon O
LO
Vaughn
Chi-Chao
CC
Chan
Janet L
JL
Davis
D000328:Adult; D003937:Diagnosis, Differential; D015828:Eye Infections, Viral / Q000175:diagnosis* / Q000821:virology; D017809:Fatal Outcome; D005260:Female; D015334:Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor / Q000235:genetics; D015750:Genes, gag / Q000235:genetics; D015751:Genes, pol / Q000235:genetics; D015368:Human T-lymphotropic virus 1 / Q000235:genetics / Q000302:isolation & purification; D006801:Humans; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000175:diagnosis* / Q000821:virology; D015882:Retinal Necrosis Syndrome, Acute / Q000175:diagnosis* / Q000821:virology; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000821:virology