Copyright 1998 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.1998
Corneal pigmentation deposition has been reported in many systemic diseases. These include the lysosomal diseases, Wilson disease, amyloidosis, multiple myeloma, cystinosis, and hemochromatosis. These underlying conditions must be considered in the differential diagnosis of corneal deposits, as they might be treatable. We focus on an unusual case of corneal iron deposition in a patient with acquired hemochromatosis.
A 70-year-old Russian woman immigrated to the United States in 1995. She was seen by the ophthalmology department because of gradually worsening vision since 1990. Her medical history was notable for type II diabetes, hypertension, arthritis, anemia, gastritis, and liver dysfunction. She had been diagnosed with anemia in 1988, and received weekly intravenous iron injections between 1988 and 1989 after daily injections for 3 weeks. The dosage of each injection and the type of anemia that was present could not be ascertained. She denied alcohol abuse, previous ocular trauma, or the use of any topical ophthalmic medications. The patient received multiple phlebotomy treatments in 1997.
At the time of our initial ophthalmic examination in March 1996, the best-corrected visual acuity was 20/40 OD and 20/40 OS. The patient's eyelids were not abnormal in color; the lenses had a mild degree of nuclear sclerosis. The conjunctiva and cornea of both eyes showed small fine brown pigmentary deposits. The diffuse corneal pigment was slightly greater inferiorly than superiorly, with a clear zone of approximately 1.5 mm between the pigment and the limbus, in the intraepithelial and anterior third of the stroma (Figure 1 and Figure 2). The conjunctival pigment was extremely fine, diffuse, and interpalpebral. The extremities revealed no abnormal pigmentation.
Low-power view revealing diffuse pattern of pigment in this quiet uninflamed eye (cilia and eyelid pigment is artifact) (original magnification ×7.5).
High-power view demonstrating fine brown corneal pigment seen on direct and indirect retroillumination (original magnification ×30).
Laboratory test results since 1995 have revealed serum ferritin levels between 793 and 1173 µg/L (reference range, 10-291 µg/L), with a normal iron-binding capacity, and abnormal liver function. A liver biopsy specimen in 1996 revealed iron pigment in parenchymal cells and cirrhotic changes consistent with hemochromatosis.
Hemochromatosis can be genetic (primary) or acquired. In genetic hemochromatosis, intestinal iron absorption is significantly increased, and causes deposition of iron in the liver, skin, pancreas, joints, and heart. The organs involved become impaired with continued accumulation.
Acquired hemochromatosis occurs from hemolysis (usually from thalassemia or sideroblastic anemia) or multiple transfusions. Unlike primary hemochromatosis, iron deposition occurs first in reticuloendothelial cells. As the process continues, the reticuloendothelial system becomes saturated, and parenchymal cell deposition also occurs, leading to many of the same systemic manifestations as genetic hemochromatosis.
Ocular hemosiderosis is iron toxicity confined to the eye due to a retained intraocular iron foreign body or persistent intraocular hemorrhage. The iron deposition occurs in most parts of the eye, but especially involves the posterior segment. Severe visual loss can result from vitreal degeneration with formation of contraction bands and retinal degeneration.1
The ophthalmic manifestations of genetic or acquired hemochromatosis are quite different from the effects of ocular hemosiderosis. In genetic or acquired disease, the deposition is generally limited to the sclera and ciliary body.1,2 Hudson3 analyzed 5 postmortem cases of biopsy-proven hemochromatosis and observed no abnormalities other than conjunctival aneurysms and fundus changes similar to early diabetic retinopathy (2 of the 5 patients had diabetes). In fact, Hudson stated that "no other ocular findings characteristic of hemochromatosis have been observed."3
Our patient is, to our knowledge, the first reported case of corneal iron deposition in acquired hemochromatosis. Only 1 previous report in the literature has described a similar clinical picture. Urrets-Zavalia and Katz4 noted corneal iron deposition and termed it "corneal hemochromatosis," because there was no systemic iron overload. They described a "multitude of minute refringent dots in the anterior third of the corneal stroma," an appearance similar to our patient. Both eyes required penetrating keratoplasty due to corneal opacity. Davies et al2 reported conjunctival pigmentation encroaching onto the limbus in their series of patients with hemochromatosis. No treatment was advised for our patient, as her visual acuity was good. Furthermore, as it may require 2 to 3 years for phlebotomy to reduce substantially the total body iron stores, the intracorneal iron theoretically may also clear with the passage of time.
Reprints: Douglas R. Lazzaro, MD, 7901 Fourth Ave, Brooklyn, NY 11209.
Lazzaro DR, Lin K, Stevens JA. Corneal Findings in Hemochromatosis. Arch Ophthalmol. 1998;116(11):1531-1532. doi: