A 78-year-old man was referred to our clinic for evaluation of bilateral
ptosis that developed over the previous 2 months. His ocular history was remarkable
for cataract extraction and intraocular lens implantation in both eyes 1 year
prior to initial examination. His medical history was significant for chronic
lymphocytic leukemia (CLL) diagnosed 7 years earlier during a laboratory workup
for anemia (hematocrit, 22.1%) and lymphocytosis (white blood cell count,
150 × 103/µL), which was detected on results of routine
blood work. There was no lymphadenopathy or splenic enlargement at the time
of diagnosis, consistent with stage 0 CLL. He did not require treatment.
At initial examination, his visual acuity was 20/30 OU. The examination
findings were notable for normal pupils, severely limited ductions in all
directions in both eyes, and bilateral ptosis (Figure 1). Levator function was 2 mm OU. Palpation revealed marked
resistance to retropulsion in both eyes.
External appearance at initial
examination demonstrating profound ptosis OU.
Computed tomography demonstrated enlargement of all extraocular muscles
in both eyes, with mild enlargement of the lacrimal glands and soft tissues
of both upper and lower eyelids (Figure 2).
Computed tomography scans in the
coronal (A) and axial (B) planes demonstrating enlargement of the extraocular
muscles in both eyes.
The patient underwent anterior orbitotomy with biopsy specimens obtained
from the anterior orbital fat. Histologic examination revealed a dense infiltrate
of small lymphocytes that stained positive for IgD kappa, CD5, CD19, CD20,
and CD23, consistent with B-cell CLL. These marker studies were identical
to the pattern observed at the time of initial diagnosis of CLL.
He was treated with local radiation to both orbits consisting of 200
rad (200 cGy) per fraction over 10 fractions. This resulted in complete resolution
of his ptosis and restoration of normal motility in both eyes at 1 month after
initiating treatment (Figure 3).
A computed tomography scan obtained 3 months after beginning radiation treatment
demonstrated reduction in the size of the extraocular muscles.
External appearance 1 month after
completing radiation treatment, demonstrating improved upper eyelid position
in both eyes.
When the diagnosis of orbital CLL was made, he was referred to his hematologist/oncologist
for systemic evaluation. Blood work results revealed a white blood cell count
of 8.3 × 103/µL and hematocrit of 30%. There was no
lymphadenopathy or splenomegaly. These findings suggested that the orbital
recurrence of the CLL was not associated with systemic recurrence. He remained
unchanged at last follow-up 14 months after initial examination and had no
evidence of recurrence, either within the orbit or systemically.
Chronic lymphocytic leukemia is the most common type of leukemia in
the United States. It is usually B cell in origin and is characterized by
the proliferation of lymphocytes that accumulate within the blood, bone marrow,
lymph nodes, and extranodal tissues. Patients are typically older than 50
years, and the disease is more common in men.
Leukemia, in general, has been reported in tissues throughout the eye,
as well as in the orbit and adnexal structures. Clinically, these structures
are more involved in acute leukemias, with retinal findings most frequently
observed. Acute leukemia is well known for its ability to manifest within
the orbit as a granulocytic sarcoma, or chloroma, usually in children.
Autopsy studies have shown ocular and periocular involvement of chronic
leukemia in 75% of patients.1,2
Clinically, CLL may be observed in structures throughout the eye.3 Several manifestations of CLL have been reported
in and around the orbit, including infiltration of the lacrimal sac resulting
in epiphora and dacryocystitis,4-6
lacrimal gland swelling,7 sicca syndrome
(without lacrimal gland enlargement),8 optic
nerve infiltration,9 proptosis,10,11 ophthalmoplegia,10,11
ptosis,11 and orbital apex syndrome.11
The patient in this report differs from previous reports of CLL involving
the orbit in several ways. First, previously reported manifestations of orbital
CLL infiltration include a diffuse orbital mass10
and unilateral extraocular muscle enlargement.11
Radiographically, our patient had findings suggestive of thyroid-associated
orbitopathy, namely, enlargement of the extraocular muscles bilaterally. We
are unaware of this manifestation of CLL having been reported previously.
Clinically, his near total ophthalmoplegia and ptosis suggested a disease
entity other than thyroid-associated orbitopathy. However, the radiographic
findings shown here suggest that CLL should be included in the differential
diagnosis of bilateral extraocular muscle enlargement.
Second, CLL seen within the orbit has been described as the initial
manifestation of the disease or occurring in patients with active and, in
some cases, worsening systemic disease.4-6,9,10
Our patient had no evidence of systemic disease activity at the time of diagnosis
and, in fact, his blood cell counts at the time of diagnosis of his orbital
CLL were at their best since his initial CLL diagnosis. To our knowledge,
there have been no reports of periocular or orbital manifestation of CLL in
the setting of systemic remission. While secondary lymphopoietic tumors have
been reported in association with CLL (Richter syndrome),12-14
the identical tumor markers in specimens from the orbit and from initial diagnosis
suggest that the orbital manifestation was part of the same disease process.
This observation suggests that the possibility of local orbital recurrence
should be considered despite a seemingly indolent disease course.
Corresponding author and reprints: Peter A. D. Rubin, MD, Department
of Oculoplastics, Orbit, and Cosmetic Surgery, Massachusetts Eye and Ear Infirmary,
243 Charles St, Boston, MA 02114. (e-mail: firstname.lastname@example.org).
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