Asymptomatic Unresponsive Bilateral Uveitis Posing as a Masquerade Syndrome in a Patient with Chronic Lymphocytic Leukem

1. Asymptomatic Unresponsive Bilateral Uveitis Posing as a Masquerade Syndrome in a Patient with Chronic Lymphocytic Leukemia Josephine-Liezl Cueto, M.D.* Kendall R. Dobbins, M.D.* Geisinger Medical Center, Department of Ophthalmology Danville, PA *No financial interest

2. Purpose • To report a case of asymptomatic bilateral chronic anterior uveitis unresponsive to topical steroids in a patient with a history of chronic lymphocytic leukemia (CLL). While the consensus was that masquerade syndrome was high on the differential diagnosis, we describe how aqueous fluid analysis was crucial in determining that it was not the final diagnosis.

3. Methods • 65 year old male with a history of CLL who presents with decreased vision in both eyes at distance and near • He was referred by an outside Ophthalmologist for a 3 month history of bilateral chronic uveitis that was unresponsive to high dose topical steroid treatment • PMH: CLL treated with chemotherapy • POH: None • ROS: no eye pain, no photophobia, no rash, no gastrointestinal problems

4. Methods • Va: • OD: 20/60 PH 20/20- • OS: 20/100 PH NI • Pupils • No RAPD • IOP • Ta: 13 OD, 14 OS • Cornea • WBC’s coating endothelium • A/C • 3-4+ cell and flare OU • Lens: • 2+NSC and 1+PSC OU • Fundus Exam: • Vitreous • Clear OU • ON • 0.1 OU • Retina • Normal OU

5. Methods • Work up • All negative: RPR, FTA-ABS, Anti-nuclear Antibody, ACE, HLA B27 • After one month of increasing the frequency of topical steroid treatment, the patient’s clinical exam remained unchanged • Since the patient lacked any ocular inflammatory symptoms and had a negative serum inflammatory evaluation, the leading diagnosis was masquerade syndrome secondary to CLL • To confirm this, an anterior chamber tap was performed

6. Results • Anterior Chamber Tap cytology: • A monomorphic population of lymphocytes • No B-cell clonal population • Since CLL is a B-cell process and the A/C tap only revealed T-cells, the results indicated either an inflammatory response or a new lymphoproliferative process

7. Results • To rule out a new lymphoproliferative process, a peripheral smear was done • Findings: • Consistent with CLL • No new T-cell process

8. Results • Since the peripheral smear revealed CLL and no new peripheral lymphoproliferative disorder, the ophthalmic process was confirmed to be inflammatory

9. Results • Since the anterior chamber tap and peripheral smear proved the ocular process to be inflammatory, a subtenons steroid injection and oral steroids were added to the treatment regimen of very high dose topical steroids

10. Results • After three months of treatment, the anterior chamber inflammatory process was almost completely resolved and the oral steroids were tapered • After eight months of treatment, the topical steroids were tapered with resolvement of the anterior uveitis

11. Conclusion • In this atypical case of uveitis, while clinical suspicion was very high for masquerade syndrome, flow cytometry revealed the case to be an extremely unusual inflammatory process • This unique case demonstrates the usefulness of diagnostic analysis of aqueous in case of presumed uveitis refractory to standard treatment • While there are only two reported cases 1,2 of hematologic cancers diagnosed by an anterior chamber tap, this is the only reported case where a highly suspected masquerade syndrome secondary to a previously diagnosed blood dyscrasia was proven to be an inflammatory process by anterior chamber analysis

12. References • Birnbaum AD, Tessler HH, Goldstein DA. A Case of Hypopyon Uveitis Nonresponsive to Steroid Therapy and a Review of Anterior Segment Masquerade Syndromes in Childhood. J Pediatr Ophthalmol Strabismus 2005;42:372-377. • Verbraeken HE, Hanssens M, Hildegaard P, et al. Br J Ophthalmol 1997; 81:31-36.