CHOROIDAL NEOVASCULAR MEMBRANE SECONDARY TO PRIMARY HEMOCHROMATOSIS Peter H. Win, MD, Jose S. Pulido, MD, MS, MPH, Michael A. Mahr, MD
Purpose: To describe the findings for a patient with hemochromatosis, angioid streak– like changes, and choroidal neovascularization. Methods: Case report. Results: A 63-year-old man with primary hemochromatosis presented with recent vision loss. Visual acuity was 20/20 in the right eye and 20/70 in the left eye. Funduscopic examination and fluorescein angiography disclosed diffuse retinal pigment epithelial mottling, peripapillary hyperfluorescence, and a choroidal neovascular membrane lesion. Conclusion: Hemochromatosis may be associated with angioid streak–like changes in Bruch membrane, choroidal neovascularization, and diffuse retinal pigment epithelial changes. RETINAL CASES & BRIEF REPORTS 1:147–148, 2007
From the Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
diameter and extended within 0.48 mm of the center of macular as shown by fluorescein as well as indocyanine green angiography (Fig. 1, A and B). Argon photocoagulation was applied over the entire choroidal neovascular membrane lesion. Systemically, the patient’s serum iron overload was treated with weekly phlebotomy.
T
here have been several descriptions of patients with secondary hemochromatosis associated with systemic hemoglobinopathies who developed choroidal neovascular membrane lesions.1–3 As hypothesized by McLane et al1 and Singerman,3 iron deposition in Bruch membrane most likely disrupts the lamina basalis and allows the subsequent choroidal neovascularization to occur. To our knowledge, primary hemochromatosis has not previously been associated with choroidal neovascularization. We report a case of choroidal neovascularization associated with primary hemochromatosis.
Discussion Singerman2 described eight patients with extrafoveal choroidal neovascular membrane lesions associated with secondary hemochromatosis who underwent treatment with laser photocoagulation. Laser treatment to those lesions decreased symptoms, minimized the size of the central scotoma, and preserved visual acuity in many cases. However, treated lesions required close monitoring with repeated fluorescein angiograms due to the risks of recurrence within 6 weeks to 8 weeks. Secondary hemochromatosis occurs in several conditions, such as ineffective erythropoiesis, dietary overload, alcoholic cirrhosis, and multiple blood transfusions. Accumulation of iron in several organs causes hepatic cirrhosis, skin pigmentation, arthropathy, cardiomyopathy, and endocrinopathies. In contrast, primary hemochromatosis is a genetic defect in iron metabolism where there is increased absorption of iron from the gastrointestinal tract. Primary hemochromatosis has been associated with pigmentation on the skin, gums, buccal mucous membranes, lips, and tongue. Hoisen et al4 reported the ocular findings for
Case Report A 63-year-old man who had only recently been diagnosed with primary hemochromatosis presented with recent vision loss. Visual acuity was 20/20 in the right eye and 20/70 in the left eye. Funduscopic examination disclosed diffuse retinal pigment epithelial mottling and a choroidal neovascular membrane lesion located in the temporal macula in the left eye that measured 0.8 mm in Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., New York. None of the authors have proprietary interest in this report. Reprint requests: Jose S. Pulido, MD, MS, MPH, Department of Ophthalmology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905; e-mail: [email protected]
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Fig. 2. Fluorescein angiogram revealing peripapillary hyperfluorescence and diffuse mottled hyperfluorescence of the posterior pole in the right eye.
Fig. 1. A, Choroidal neovascular membrane lesion located in the temporal macula of the left eye. B, Fluorescein angiogram revealing a choroidal neovascular membrane lesion in the left eye that was taken 1 month after the initial color photograph. Some of the subretinal blood had cleared, allowing visualization of the choroidal neovascular membrane.
44 patients with primary hemochromatosis and for 2 patients with secondary hemochromatosis. These investigators noted that the patients had bluish brown discoloration around the disk margin of the retina, in the conjunctiva, and on the eyelids. Roth and Foos5 described iron deposition in the stroma, sclera, and peripapillary retinal pigment epithelium in patients with primary hemochromatosis. The fluorescein angiogram of the left eye of our patient revealed peripapillary hyperfluorescence consistent with the histologic findings of Roth and Foos and mottled
hyperfluorescence of the posterior segment (Fig. 2). Primary hemochromatosis should be considered in the differential diagnosis of choroidal neovascularization. It may occur from a pathophysiology similar to that seen with secondary hemochromatosis. Deferoxamine is used in the treatment of hemochromatosis. Several reported ocular side effects of deferoxamine toxicity are cataracts, optic neuropathy, sensorineural hearing loss, and retinal pigment epithelial degeneration/changes. Interestingly, our patient had funduscopic findings of retinal pigment epithelial degeneration/mottling similar to those reported with deferoxamine toxicity, although he had never been treated with deferoxamine. This raises a question of whether some of the cases of pigmentary degeneration associated with deferoxamine toxicity were really due to deferoxamine or to the underlying systemic iron overload. Key words: choroidal neovascular membrane, primary hemochromatosis, laser photocoagulation, deferoxamine toxicity. References 1.
2. 3. 4.
5.
McLane NJ, Grizzard WS, Kousseff BG, et al. Angioid streaks associated with hereditary spherocytosis. Am J Ophthalmol 1984;97:444–449. Singerman LJ, Hatem G. Laser treatment of choroidal neovascular membranes in angioid streaks. Retina 1981;1:75–83. Singerman LJ. Angioid streaks in thalassaemia major. Br J Ophthalmol 1983;67:558. Hoisen H, Kopstad G, Elsas T, et al. Idiopathic haemochromatosis and eye symptoms. A case report. Acta Ophthalmol (Copenh) 1985;63:192–198. Roth AM, Foos RY. Ocular pathologic changes in primary hemochromatosis. Arch Ophthalmol 1972;87:507–514.
Purpose: To describe the findings for a patient with hemochromatosis, angioid streak– like changes, and choroidal neovascularization. Methods: Case report. Results: A 63-year-old man with primary hemochromatosis presented with recent vision loss. Visual acuity was 20/20 in the right eye and 20/70 in the left eye. Funduscopic examination and fluorescein angiography disclosed diffuse retinal pigment epithelial mottling, peripapillary hyperfluorescence, and a choroidal neovascular membrane lesion. Conclusion: Hemochromatosis may be associated with angioid streak–like changes in Bruch membrane, choroidal neovascularization, and diffuse retinal pigment epithelial changes. RETINAL CASES & BRIEF REPORTS 1:147–148, 2007
From the Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
diameter and extended within 0.48 mm of the center of macular as shown by fluorescein as well as indocyanine green angiography (Fig. 1, A and B). Argon photocoagulation was applied over the entire choroidal neovascular membrane lesion. Systemically, the patient’s serum iron overload was treated with weekly phlebotomy.
T
here have been several descriptions of patients with secondary hemochromatosis associated with systemic hemoglobinopathies who developed choroidal neovascular membrane lesions.1–3 As hypothesized by McLane et al1 and Singerman,3 iron deposition in Bruch membrane most likely disrupts the lamina basalis and allows the subsequent choroidal neovascularization to occur. To our knowledge, primary hemochromatosis has not previously been associated with choroidal neovascularization. We report a case of choroidal neovascularization associated with primary hemochromatosis.
Discussion Singerman2 described eight patients with extrafoveal choroidal neovascular membrane lesions associated with secondary hemochromatosis who underwent treatment with laser photocoagulation. Laser treatment to those lesions decreased symptoms, minimized the size of the central scotoma, and preserved visual acuity in many cases. However, treated lesions required close monitoring with repeated fluorescein angiograms due to the risks of recurrence within 6 weeks to 8 weeks. Secondary hemochromatosis occurs in several conditions, such as ineffective erythropoiesis, dietary overload, alcoholic cirrhosis, and multiple blood transfusions. Accumulation of iron in several organs causes hepatic cirrhosis, skin pigmentation, arthropathy, cardiomyopathy, and endocrinopathies. In contrast, primary hemochromatosis is a genetic defect in iron metabolism where there is increased absorption of iron from the gastrointestinal tract. Primary hemochromatosis has been associated with pigmentation on the skin, gums, buccal mucous membranes, lips, and tongue. Hoisen et al4 reported the ocular findings for
Case Report A 63-year-old man who had only recently been diagnosed with primary hemochromatosis presented with recent vision loss. Visual acuity was 20/20 in the right eye and 20/70 in the left eye. Funduscopic examination disclosed diffuse retinal pigment epithelial mottling and a choroidal neovascular membrane lesion located in the temporal macula in the left eye that measured 0.8 mm in Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., New York. None of the authors have proprietary interest in this report. Reprint requests: Jose S. Pulido, MD, MS, MPH, Department of Ophthalmology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905; e-mail: [email protected]
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Fig. 2. Fluorescein angiogram revealing peripapillary hyperfluorescence and diffuse mottled hyperfluorescence of the posterior pole in the right eye.
Fig. 1. A, Choroidal neovascular membrane lesion located in the temporal macula of the left eye. B, Fluorescein angiogram revealing a choroidal neovascular membrane lesion in the left eye that was taken 1 month after the initial color photograph. Some of the subretinal blood had cleared, allowing visualization of the choroidal neovascular membrane.
44 patients with primary hemochromatosis and for 2 patients with secondary hemochromatosis. These investigators noted that the patients had bluish brown discoloration around the disk margin of the retina, in the conjunctiva, and on the eyelids. Roth and Foos5 described iron deposition in the stroma, sclera, and peripapillary retinal pigment epithelium in patients with primary hemochromatosis. The fluorescein angiogram of the left eye of our patient revealed peripapillary hyperfluorescence consistent with the histologic findings of Roth and Foos and mottled
hyperfluorescence of the posterior segment (Fig. 2). Primary hemochromatosis should be considered in the differential diagnosis of choroidal neovascularization. It may occur from a pathophysiology similar to that seen with secondary hemochromatosis. Deferoxamine is used in the treatment of hemochromatosis. Several reported ocular side effects of deferoxamine toxicity are cataracts, optic neuropathy, sensorineural hearing loss, and retinal pigment epithelial degeneration/changes. Interestingly, our patient had funduscopic findings of retinal pigment epithelial degeneration/mottling similar to those reported with deferoxamine toxicity, although he had never been treated with deferoxamine. This raises a question of whether some of the cases of pigmentary degeneration associated with deferoxamine toxicity were really due to deferoxamine or to the underlying systemic iron overload. Key words: choroidal neovascular membrane, primary hemochromatosis, laser photocoagulation, deferoxamine toxicity. References 1.
2. 3. 4.
5.
McLane NJ, Grizzard WS, Kousseff BG, et al. Angioid streaks associated with hereditary spherocytosis. Am J Ophthalmol 1984;97:444–449. Singerman LJ, Hatem G. Laser treatment of choroidal neovascular membranes in angioid streaks. Retina 1981;1:75–83. Singerman LJ. Angioid streaks in thalassaemia major. Br J Ophthalmol 1983;67:558. Hoisen H, Kopstad G, Elsas T, et al. Idiopathic haemochromatosis and eye symptoms. A case report. Acta Ophthalmol (Copenh) 1985;63:192–198. Roth AM, Foos RY. Ocular pathologic changes in primary hemochromatosis. Arch Ophthalmol 1972;87:507–514.
