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Ocular neovascularization in a patient with Fanconi anemia
Ocular neovascularization in a patient with Fanconi anemia Salim Ben Yahia, MD; Sonia Attia Touffahi, MD; Hatem Zeghidi, MD; Sonia Zaouali, MD; Moncef Khairallah, MD ABSTRACT • RÉSUMÉ
Case report: An 11-year-old girl diagnosed with Fanconi anemia was referred to us for redness and pain in her right eye. Findings in the right eye included visual acuity of counting fingers, neovascular glaucoma, vitreous hemorrhage, optic disc neovascularization, and features of peripheral ischemic retinopathy. Findings in the left eye included peripheral retinal neovascularization and areas of retinal capillary nonperfusion. Comments: Patients with Fanconi anemia may develop ocular neovascularization with subsequent severe visual loss due to vitreous hemorrhage or neovascular glaucoma. Regular ophthalmic examination, including ophthalmoscopy and fluorescein angiography in selected cases, is recommended in such patients. Observation : Une fillette de 11 ans suivie pour une anémie de Fanconi nous a été adressée pour rougeur et douleur à l’œil droit. L’examen de l’oeil droit montrait une acuité visuelle réduite au décompte des doigts, un glaucome néovasculaire, une hémorragie du vitré, une néovascularisation de la papille et des territoires de non-perfusion capillaire en périphérie. L’examen de l’œil gauche montrait une néovascularisation de la rétine en périphérie et des territoires de non-perfusion capillaire. Commentaires : Les patients ayant une anémie de Fanconi peuvent développer une néovascularisation oculaire pouvant se compliquer d’une perte visuelle sévère due à une hémorragie du vitré ou à un glaucome néovasculaire. L’examen ophtalmologique régulier, comprenant l’ophtalmoscopie et l’angiographie à la fluorescéine dans certains cas, est recommandé pour ces patients.
F
anconi anemia is one of the most frequently reported inherited bone marrow failure syndromes. It is an autosomal recessive syndrome characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukemia and solid malignancies.1 Numerous ocular features have been described in patients with Fanconi anemia, including cataract; retinal, subhyaloid, and vitreous hemorrhages; venous tortuosity; retinal occlusive vasculopathy; exudates; cotton-wool spots; central retinal vein occlusion; cystoid macular edema; and optic disc edema.2–7 We report a patient with Fanconi anemia who developed neovascular glaucoma with optic disc and retinal
From the Department of Ophthalmology, Fattouma Bourguiba University Hospital, Monastir, Tunisia Originally received Jan. 2, 2006. Revised Jun. 7, 2006 Accepted for publication Jun. 13, 2006 Correspondence to: Moncef Khairallah, MD, Department of Ophthalmology, Fattouma Bourguiba University Hospital, 5019 Monastir, Tunisia; fax 00 216 73 460 678; [email protected] This article has been peer-reviewed. Cet article a été évalué par les pairs. Can J Ophthalmol 2006;41:778–9
778
neovascularization resulting from extensive retinal capillary nonperfusion. CASE
REPORT
An 11-year-old girl was referred to our department for redness and pain in her right eye. She was born at a gestational age of 38 weeks. She had a history of mental retardation and, at age 4 years, had undergone cardiovascular surgery for cardiac abnormality. These anomalies were attributed to aplastic Fanconi anemia on the results of cytogenetic analyses when she was 7 years old. Since, she has been treated with monthly blood transfusions. The hematologic profile showed hemoglobin concentration 11.4 g/dL, white cell count 900/mL, and platelet count 21 000/mL. Blood tests showed no evidence of other metabolic disorder or coagulopathy, and bone marrow tests were not indicative of an acute myeloid leukemia. The parents of the patient were related and she had a brother with Fanconi anemia. On presentation, the patient’s best corrected visual acuity was counting fingers in the right eye and 20/20 in the left eye. Slit-lamp examination of the right eye revealed marked iris neovascularization. Intraocular pressure by applanation tonometry was 46 mm Hg. Gonioscopy disclosed eight clock hours of closed angle,
Neovascularization with Fanconi anemia—Ben Yahia et al
Neovascularization with Fanconi anemia—Ben Yahia et al
Fig. 1—Red-free fundus photograph of the left eye shows a whitecentered retinal hemorrhage (arrowhead), retinal vascular sheathing, and peripheral temporal retinal neovascularization (arrow).
Fig. 2—Fluorescein angiography of the left eye shows marked capillary nonperfusion in the temporal retina and fluorescein leakage from retinal neovascularization (arrow).
and the remaining four clock hours had florid neovascularization. Slit-lamp examination of the left eye showed a normal anterior segment, an intraocular pressure of 16 mm Hg, and an open angle as determined by gonioscopy. Posterior segment examination of the right eye showed moderate vitreous hemorrhage, active optic disc neovascularization, retinal hemorrhages, peripheral retinal temporal vascular tortuosity, microaneurysms, hard exudates, and vascular sheathing. Dilated fundus examination of the left eye revealed a white-centered retinal hemorrhage, retinal vascular sheathing, and peripheral temporal retinal neovascularization (Fig. 1). Fluorescein angiography of the right eye showed hyperfluorescence and leakage from the optic disc neovascularization and extensive retinal capillary nonperfusion. In the left eye, there were marked capillary nonperfusion in the temporal retina and fluorescein leakage from retinal neovascularization (Fig. 2). Retinal photocoagulation was considered, but the patient was lost to follow-up.
in selected cases, is recommended in patients with Fanconi anemia. Prompt panretinal photocoagulation may be useful in eyes with extensive retinal ischemia, particularly in the presence of new vessels.
COMMENTS
Although retinopathy has been reported in association with Fanconi anemia,3,4,6,7 we are unaware of previous reports of ocular neovascularization. Iris, retinal, and optic disc neovascularization in our patient resulted from extensive retinal capillary nonperfusion, in the absence of features of central retinal vein occlusion. Nevertheless, a coincidental association cannot be ruled out. Ocular neovascularization should be added to the ocular manifestations of Fanconi anemia. Regular ophthalmic examination, including ophthalmoscopy, complemented with fluorescein angiography
The authors have no financial or proprietary interests related to this submission.
REFERENCES 1. Tischkowitz M, Dokal I. Fanconi anaemia and leukaemia – clinical and molecular aspects. Br J Haematol 2004;126: 176–91. 2. Carraro MC, Rossetti L, Gerli GC. Prevalence of retinopathy in patients with anemia or thrombocytopenia. Eur J Haematol 2001;67:238–44. 3. Mansour AM, Salti HI, Han DP, et al. Ocular findings in aplastic anemia. Ophthalmologica 2000;214:399–402. 4. Lilley ER, Bruggers CS, Pollock SC. Papilledema in a patient with aplastic anemia. Arch Ophthalmol 1990;108:1674–5. 5. Merriman M, Mora J, McGaughran J. Fanconi anemia and primary cataracts: first case. Ophthalmic Genet 2002;23: 253–5. 6. Bahar I, Weinberger D, Kramer M, Axer-Siegel R. Retinal vasculopathy in Fanconi anemia: a case report. Retina 2005; 25:799–80. 7. Niedermayer I, Reiche W, Graf N, Mestres P, Feiden W. Cerebroretinal vasculopathy and leukoencephalopathy mimicking a brain tumor. Report of two early-onset cases with Fanconi’s anemia-like phenotypes suggesting an autosomalrecessive inheritance pattern. Clin Neuropathol 2000;19: 285–95. Key words: Fanconi anemia, ocular neovascularization, vitreous hemorrhage, neovascular glaucoma, retinal ischemia
CAN J OPHTHALMOL—VOL. 41, NO. 6, 2006
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Case report: An 11-year-old girl diagnosed with Fanconi anemia was referred to us for redness and pain in her right eye. Findings in the right eye included visual acuity of counting fingers, neovascular glaucoma, vitreous hemorrhage, optic disc neovascularization, and features of peripheral ischemic retinopathy. Findings in the left eye included peripheral retinal neovascularization and areas of retinal capillary nonperfusion. Comments: Patients with Fanconi anemia may develop ocular neovascularization with subsequent severe visual loss due to vitreous hemorrhage or neovascular glaucoma. Regular ophthalmic examination, including ophthalmoscopy and fluorescein angiography in selected cases, is recommended in such patients. Observation : Une fillette de 11 ans suivie pour une anémie de Fanconi nous a été adressée pour rougeur et douleur à l’œil droit. L’examen de l’oeil droit montrait une acuité visuelle réduite au décompte des doigts, un glaucome néovasculaire, une hémorragie du vitré, une néovascularisation de la papille et des territoires de non-perfusion capillaire en périphérie. L’examen de l’œil gauche montrait une néovascularisation de la rétine en périphérie et des territoires de non-perfusion capillaire. Commentaires : Les patients ayant une anémie de Fanconi peuvent développer une néovascularisation oculaire pouvant se compliquer d’une perte visuelle sévère due à une hémorragie du vitré ou à un glaucome néovasculaire. L’examen ophtalmologique régulier, comprenant l’ophtalmoscopie et l’angiographie à la fluorescéine dans certains cas, est recommandé pour ces patients.
F
anconi anemia is one of the most frequently reported inherited bone marrow failure syndromes. It is an autosomal recessive syndrome characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukemia and solid malignancies.1 Numerous ocular features have been described in patients with Fanconi anemia, including cataract; retinal, subhyaloid, and vitreous hemorrhages; venous tortuosity; retinal occlusive vasculopathy; exudates; cotton-wool spots; central retinal vein occlusion; cystoid macular edema; and optic disc edema.2–7 We report a patient with Fanconi anemia who developed neovascular glaucoma with optic disc and retinal
From the Department of Ophthalmology, Fattouma Bourguiba University Hospital, Monastir, Tunisia Originally received Jan. 2, 2006. Revised Jun. 7, 2006 Accepted for publication Jun. 13, 2006 Correspondence to: Moncef Khairallah, MD, Department of Ophthalmology, Fattouma Bourguiba University Hospital, 5019 Monastir, Tunisia; fax 00 216 73 460 678; [email protected] This article has been peer-reviewed. Cet article a été évalué par les pairs. Can J Ophthalmol 2006;41:778–9
778
neovascularization resulting from extensive retinal capillary nonperfusion. CASE
REPORT
An 11-year-old girl was referred to our department for redness and pain in her right eye. She was born at a gestational age of 38 weeks. She had a history of mental retardation and, at age 4 years, had undergone cardiovascular surgery for cardiac abnormality. These anomalies were attributed to aplastic Fanconi anemia on the results of cytogenetic analyses when she was 7 years old. Since, she has been treated with monthly blood transfusions. The hematologic profile showed hemoglobin concentration 11.4 g/dL, white cell count 900/mL, and platelet count 21 000/mL. Blood tests showed no evidence of other metabolic disorder or coagulopathy, and bone marrow tests were not indicative of an acute myeloid leukemia. The parents of the patient were related and she had a brother with Fanconi anemia. On presentation, the patient’s best corrected visual acuity was counting fingers in the right eye and 20/20 in the left eye. Slit-lamp examination of the right eye revealed marked iris neovascularization. Intraocular pressure by applanation tonometry was 46 mm Hg. Gonioscopy disclosed eight clock hours of closed angle,
Neovascularization with Fanconi anemia—Ben Yahia et al
Neovascularization with Fanconi anemia—Ben Yahia et al
Fig. 1—Red-free fundus photograph of the left eye shows a whitecentered retinal hemorrhage (arrowhead), retinal vascular sheathing, and peripheral temporal retinal neovascularization (arrow).
Fig. 2—Fluorescein angiography of the left eye shows marked capillary nonperfusion in the temporal retina and fluorescein leakage from retinal neovascularization (arrow).
and the remaining four clock hours had florid neovascularization. Slit-lamp examination of the left eye showed a normal anterior segment, an intraocular pressure of 16 mm Hg, and an open angle as determined by gonioscopy. Posterior segment examination of the right eye showed moderate vitreous hemorrhage, active optic disc neovascularization, retinal hemorrhages, peripheral retinal temporal vascular tortuosity, microaneurysms, hard exudates, and vascular sheathing. Dilated fundus examination of the left eye revealed a white-centered retinal hemorrhage, retinal vascular sheathing, and peripheral temporal retinal neovascularization (Fig. 1). Fluorescein angiography of the right eye showed hyperfluorescence and leakage from the optic disc neovascularization and extensive retinal capillary nonperfusion. In the left eye, there were marked capillary nonperfusion in the temporal retina and fluorescein leakage from retinal neovascularization (Fig. 2). Retinal photocoagulation was considered, but the patient was lost to follow-up.
in selected cases, is recommended in patients with Fanconi anemia. Prompt panretinal photocoagulation may be useful in eyes with extensive retinal ischemia, particularly in the presence of new vessels.
COMMENTS
Although retinopathy has been reported in association with Fanconi anemia,3,4,6,7 we are unaware of previous reports of ocular neovascularization. Iris, retinal, and optic disc neovascularization in our patient resulted from extensive retinal capillary nonperfusion, in the absence of features of central retinal vein occlusion. Nevertheless, a coincidental association cannot be ruled out. Ocular neovascularization should be added to the ocular manifestations of Fanconi anemia. Regular ophthalmic examination, including ophthalmoscopy, complemented with fluorescein angiography
The authors have no financial or proprietary interests related to this submission.
REFERENCES 1. Tischkowitz M, Dokal I. Fanconi anaemia and leukaemia – clinical and molecular aspects. Br J Haematol 2004;126: 176–91. 2. Carraro MC, Rossetti L, Gerli GC. Prevalence of retinopathy in patients with anemia or thrombocytopenia. Eur J Haematol 2001;67:238–44. 3. Mansour AM, Salti HI, Han DP, et al. Ocular findings in aplastic anemia. Ophthalmologica 2000;214:399–402. 4. Lilley ER, Bruggers CS, Pollock SC. Papilledema in a patient with aplastic anemia. Arch Ophthalmol 1990;108:1674–5. 5. Merriman M, Mora J, McGaughran J. Fanconi anemia and primary cataracts: first case. Ophthalmic Genet 2002;23: 253–5. 6. Bahar I, Weinberger D, Kramer M, Axer-Siegel R. Retinal vasculopathy in Fanconi anemia: a case report. Retina 2005; 25:799–80. 7. Niedermayer I, Reiche W, Graf N, Mestres P, Feiden W. Cerebroretinal vasculopathy and leukoencephalopathy mimicking a brain tumor. Report of two early-onset cases with Fanconi’s anemia-like phenotypes suggesting an autosomalrecessive inheritance pattern. Clin Neuropathol 2000;19: 285–95. Key words: Fanconi anemia, ocular neovascularization, vitreous hemorrhage, neovascular glaucoma, retinal ischemia
CAN J OPHTHALMOL—VOL. 41, NO. 6, 2006
779