- Email: [email protected]
Two cases of unilateral retinal neovascularization in turner syndrome
3. Vine AK, Samama MM. The role of abnormalities in the anticoagulant and fibrinolytic systems in retinal vascular occlusions. Surv Ophthalmol 1993;37:283–292. 4. Allf BF, de Juan E Jr. In vivo cannulation of retinal vessels. Graefes Arch Clin Exp Ophthalmol 1987;225:221–225. 5. Steinkamp GWK, Hattenbach LO, Scharrer I, Ohrloff C. Front-loading fibrinolysis with recombinant tissue-plasminogen activator in central or branch retinal vein occlusions. Ophthalmologe 1994;91:280 –282.
short stature, ovarian dysgenesis with primary amenorrhea, sexual infantilism, and sterility. Other clinical features of Turner syndrome include webbed neck, cubitus valgus, and peripheral lymphedema. Chrousus and associates1 and Lessell and Forbes2 reported the ocular findings in Turner syndrome. These include a wide spectrum of abnormalities: strabismus, blepharoptosis, hypertelorism, epicanthus, antimongoloid slants, red-green color deficiency, cataract, blue sclera, and corneal nebulae. Posterior segment features have been described in previous reports on Turner syndrome, including associations with Coats disease,3 unilateral rhegmatogenous retinal detachment,4 and bilateral retinal detachments resembling stage 5 retinopathy of prematurity.5 To our knowledge, there is no case report of Turner syndrome associated with retinal vascular abnormalities. We report two cases of unilateral retinal neovascularization in Turner syndrome.
Two Cases of Unilateral Retinal Neovascularization in Turner Syndrome Miwako Gotoh, MD, Masahiro Yamamoto, MD, Takako Kawasaki, MD, Mariko Shigetoh, MD, and Hajime Inomata, MD PURPOSE: To report two cases of unilateral retinal neovascularization in Turner syndrome. METHOD: We examined two female infants, born at 34 weeks’ and 33 weeks’ gestation, who had received oxygen for 9 days and 3 days, respectively, after birth. Both infants had the 45,XO karyotype of Turner syndrome. RESULTS: In each patient, the fundus of one eye showed an avascular area, neovascularization, and multiple branchings with anastomosis of retinal vessels in the temporal periphery. Fellow eyes showed no abnormalities in the fundi. Both infants were treated with argon laser photocoagulation to the avascular area and the neovascularization in the temporal periphery. The neovascularization regressed completely after retinal photocoagulation. CONCLUSION: Abnormalities of retinal vessels may be one of the ocular findings associated with Turner syndrome. (Am J Ophthalmol 1998;126: 144 –146. © 1998 by Elsevier Science Inc. All rights reserved.)
T
● CASE 1:
A 4-month-old female infant was born at 34 weeks’ gestation weighing 2,987 grams; she required ventilation with oxygen at 21% to 60% concentration for 9 days. Chromosomal analysis of the amniotic fluid showed 45,XO karyotype. She showed an high arched palate, cubitus valgus, and atrial septal defect typical of Turner syndrome. Anterior segment of the eyes was normal. Her left fundus showed an avascular area, neovascularization, and multiple branchings with anastomosis of retinal vessels in the temporal periphery (Figure 1, left). Fluorescein angiography of the left eye demonstrated peripheral avascular area and leakage from the temporal end of vessels (Figure 1, right). The right fundus was normal. Laser photocoagulation was performed on the left eye. With an argon green laser, we delivered a total of 660 burns using 0.1 W of power, a 0.2-second duration, and an approximately 250-mm spot size to the avascular area and the neovascularization in the temporal periphery. Her left fundus showed complete regression of the neovascularizaioin after retinal photocoagulation. Her parents, her elder sister, and her grandmother showed normal fundi.
URNER SYNDROME IS A CHROMOSOMAL DISORDER
in which phenotypic females have a missing or abnormal X-chromosome. The cardinal features are Accepted for publication Dec 23, 1997. Department of Ophthalmology, Faculty of Medicine, Kyushu University. Inquiries to Miwako Gotoh, MD, Department of Ophthalmology, Faculty of Medicine, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-0054, Japan; fax: 81-92-642-5663.
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AMERICAN JOURNAL
● CASE 2: A 19-day-old female infant was born by Caesarean section at 33 weeks’ gestation weighing 2,365 grams; she had received oxygen at 21% to
OF
OPHTHALMOLOGY
JULY 1998
FIGURE 1. Patient 1. (Left) Fundus photograph and (right) fluorescein angiography of the left eye, showing avascular area and abnormal pattern of retinal vessels in the temporal periphery.
FIGURE 2. Patient 2. (Left) Fundus photograph and (right) fluorescein angiography of the right eye, showing avascular area, abnormal pattern of retinal vessels, and vitreous hemorrhage in the temporal periphery.
32% concentration for 3 days. Chromosomal analysis of the cord blood showed 45,XO karyotype. She showed a webbed neck and shield-like chest as manifestations of Turner syndrome. Her right fundus showed an avascular area, neovascularization, VOL. 126, NO. 1
multiple branchings with anastomosis of retinal vessels, and vitreous hemorrhage in the temporal periphery (Figure 2, left). Fluorescein angiography showed an avascular area and leakage from the temporal end of vessels (Figure 2, right). The left
BRIEF REPORTS
145
3. Cameron JD, Yanoff M, Frayer WC. Coats’ disease and Turner’s syndrome. Am J Ophthalmol 1974;78:852– 854. 4. Khodadoust A, Paton D. Turner’s syndrome in a male: report of a case with myopia, retinal detachment, cataract and glaucoma. Arch Ophthalmol 1967;77:630 – 634. 5. Mason JO, Tasman W. Turner’s syndrome associated with bilateral retinal detachments. Am J Ophthalmol 1996;122: 742–743.
fundus was normal. Laser photocoagulation was performed on the right eye. With an argon green laser, we delivered a total of 387 burns using 0.25 W of power, a 0.2-second duration, and an approximately 300-mm to 450-mm–spot size to the avascular area and the neovascularization in the temporal periphery. There were several areas of incomplete treatment noted near the vitreous hemorrhage; therefore, 8 weeks later, additional scatter laser treatment (278 burns) was applied to treat completely the avascular periphery. The neovascularization regressed, and the vitreous hemorrhage was absorbed after retinal photocoagulation. In both cases, fundus abnormalities were limited to one eye and were similar in both cases. Differential diagnoses include retinopathy of prematurity, familial exudative vitreoretinopathy, and BlochSultzberger syndrome (incontinentia pigmenti), in which retinal neovascularization most commonly occurs in the peripheral fundus. In our patients, patterns of abnormalities in retinal vessels were similar to those of retinopathy of prematurity. However, patient 1 was not a premature infant. Although patient 2 was a premature infant who had received oxygen for 3 days, fundus abnormalities were limited to one eye. Both patients had no family history of familial exudative vitreoretinopathy. General examination ruled out incontinentia pigmenti. We think that abnormalities in retinal vessels may relate directly to the chromosomal abnormalities. If they were not treated, the affected eyes would probably develop retinal detachment similar to the case described in a patient with Turner syndrome by Mason and Tasman,5 who commented on the resemblance between the detachment and stage 5 retinopathy of prematurity. Abnormalities of retinal vessels may be one of the ocular findings associated with Turner syndrome. Early ophthalmic examination to diagnose and treat posterior ocular segment abnormalities should be considered.
Peripheral Retinal Neovascularization (Eales Disease) Associated With the Factor V Leiden Mutation Andrew W. Eller, MD, Franklin A. Bontempo, MD, Hawazin Faruki, DrPH, and Andrea Cortese Hassett, PhD PURPOSE: To illustrate a case of peripheral retinal neovascularization (Eales disease) in a patient who tested positive for the factor V Leiden mutation. METHODS: A 42–year–old woman had a 1-week history of blurred vision in her right eye. Her medical history was remarkable for a cerebrovascular accident. Ophthalmoscopy of the right eye disclosed a mild vitreous hemorrhage and a ridge of retinal neovascularization in the temporal periphery. The left fundus showed evidence of temporal retinal ischemia. A laboratory evaluation for hypercoagulability was positive for factor V Leiden mutation. RESULTS: Peripheral scatter laser photocoagulation was applied to the ischemic retina, and the neovascularization regressed. The patient began taking warfarin sodium to prevent further thrombotic events. CONCLUSION: A laboratory evaluation for coagulopathy, including the factor V Leiden mutation, should be added to the examination of patients with Eales disease, especially individuals with a history of a previous thrombotic event. (Am J Ophthalmol 1998;126:146 –149. © 1998 by Elsevier Science Inc. All rights reserved.)
Accepted for publication Jan 13, 1998. Departments of Ophthalmology (A.W.E.), Medicine (F.A.B.), and Pathology (A.C.H.), University of Pittsburgh School of Medicine; The Eye and Ear Institute (A.W.E.); and the Institute for Transfusion Medicine (F.A.B., H.F., A.C.H.). Inquiries to Andrew W. Eller, MD, The Eye and Ear Institute, 203 Lothrop St, Pittsburgh, PA 15213; fax: (412) 647–5119; e–mail: [email protected]
REFERENCES
1. Chrousos GA, Ross JL, Chrousos G, et al. Ocular findings in Turner’s syndrome: a prospective study. Ophthalmology 1984;91:926 –928. 2. Lessell S, Forbes AP. Eye signs in Turner’s syndrome. Arch Ophthalmol 1966;76:211–213.
146
AMERICAN JOURNAL
OF
OPHTHALMOLOGY
JULY 1998
short stature, ovarian dysgenesis with primary amenorrhea, sexual infantilism, and sterility. Other clinical features of Turner syndrome include webbed neck, cubitus valgus, and peripheral lymphedema. Chrousus and associates1 and Lessell and Forbes2 reported the ocular findings in Turner syndrome. These include a wide spectrum of abnormalities: strabismus, blepharoptosis, hypertelorism, epicanthus, antimongoloid slants, red-green color deficiency, cataract, blue sclera, and corneal nebulae. Posterior segment features have been described in previous reports on Turner syndrome, including associations with Coats disease,3 unilateral rhegmatogenous retinal detachment,4 and bilateral retinal detachments resembling stage 5 retinopathy of prematurity.5 To our knowledge, there is no case report of Turner syndrome associated with retinal vascular abnormalities. We report two cases of unilateral retinal neovascularization in Turner syndrome.
Two Cases of Unilateral Retinal Neovascularization in Turner Syndrome Miwako Gotoh, MD, Masahiro Yamamoto, MD, Takako Kawasaki, MD, Mariko Shigetoh, MD, and Hajime Inomata, MD PURPOSE: To report two cases of unilateral retinal neovascularization in Turner syndrome. METHOD: We examined two female infants, born at 34 weeks’ and 33 weeks’ gestation, who had received oxygen for 9 days and 3 days, respectively, after birth. Both infants had the 45,XO karyotype of Turner syndrome. RESULTS: In each patient, the fundus of one eye showed an avascular area, neovascularization, and multiple branchings with anastomosis of retinal vessels in the temporal periphery. Fellow eyes showed no abnormalities in the fundi. Both infants were treated with argon laser photocoagulation to the avascular area and the neovascularization in the temporal periphery. The neovascularization regressed completely after retinal photocoagulation. CONCLUSION: Abnormalities of retinal vessels may be one of the ocular findings associated with Turner syndrome. (Am J Ophthalmol 1998;126: 144 –146. © 1998 by Elsevier Science Inc. All rights reserved.)
T
● CASE 1:
A 4-month-old female infant was born at 34 weeks’ gestation weighing 2,987 grams; she required ventilation with oxygen at 21% to 60% concentration for 9 days. Chromosomal analysis of the amniotic fluid showed 45,XO karyotype. She showed an high arched palate, cubitus valgus, and atrial septal defect typical of Turner syndrome. Anterior segment of the eyes was normal. Her left fundus showed an avascular area, neovascularization, and multiple branchings with anastomosis of retinal vessels in the temporal periphery (Figure 1, left). Fluorescein angiography of the left eye demonstrated peripheral avascular area and leakage from the temporal end of vessels (Figure 1, right). The right fundus was normal. Laser photocoagulation was performed on the left eye. With an argon green laser, we delivered a total of 660 burns using 0.1 W of power, a 0.2-second duration, and an approximately 250-mm spot size to the avascular area and the neovascularization in the temporal periphery. Her left fundus showed complete regression of the neovascularizaioin after retinal photocoagulation. Her parents, her elder sister, and her grandmother showed normal fundi.
URNER SYNDROME IS A CHROMOSOMAL DISORDER
in which phenotypic females have a missing or abnormal X-chromosome. The cardinal features are Accepted for publication Dec 23, 1997. Department of Ophthalmology, Faculty of Medicine, Kyushu University. Inquiries to Miwako Gotoh, MD, Department of Ophthalmology, Faculty of Medicine, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-0054, Japan; fax: 81-92-642-5663.
144
AMERICAN JOURNAL
● CASE 2: A 19-day-old female infant was born by Caesarean section at 33 weeks’ gestation weighing 2,365 grams; she had received oxygen at 21% to
OF
OPHTHALMOLOGY
JULY 1998
FIGURE 1. Patient 1. (Left) Fundus photograph and (right) fluorescein angiography of the left eye, showing avascular area and abnormal pattern of retinal vessels in the temporal periphery.
FIGURE 2. Patient 2. (Left) Fundus photograph and (right) fluorescein angiography of the right eye, showing avascular area, abnormal pattern of retinal vessels, and vitreous hemorrhage in the temporal periphery.
32% concentration for 3 days. Chromosomal analysis of the cord blood showed 45,XO karyotype. She showed a webbed neck and shield-like chest as manifestations of Turner syndrome. Her right fundus showed an avascular area, neovascularization, VOL. 126, NO. 1
multiple branchings with anastomosis of retinal vessels, and vitreous hemorrhage in the temporal periphery (Figure 2, left). Fluorescein angiography showed an avascular area and leakage from the temporal end of vessels (Figure 2, right). The left
BRIEF REPORTS
145
3. Cameron JD, Yanoff M, Frayer WC. Coats’ disease and Turner’s syndrome. Am J Ophthalmol 1974;78:852– 854. 4. Khodadoust A, Paton D. Turner’s syndrome in a male: report of a case with myopia, retinal detachment, cataract and glaucoma. Arch Ophthalmol 1967;77:630 – 634. 5. Mason JO, Tasman W. Turner’s syndrome associated with bilateral retinal detachments. Am J Ophthalmol 1996;122: 742–743.
fundus was normal. Laser photocoagulation was performed on the right eye. With an argon green laser, we delivered a total of 387 burns using 0.25 W of power, a 0.2-second duration, and an approximately 300-mm to 450-mm–spot size to the avascular area and the neovascularization in the temporal periphery. There were several areas of incomplete treatment noted near the vitreous hemorrhage; therefore, 8 weeks later, additional scatter laser treatment (278 burns) was applied to treat completely the avascular periphery. The neovascularization regressed, and the vitreous hemorrhage was absorbed after retinal photocoagulation. In both cases, fundus abnormalities were limited to one eye and were similar in both cases. Differential diagnoses include retinopathy of prematurity, familial exudative vitreoretinopathy, and BlochSultzberger syndrome (incontinentia pigmenti), in which retinal neovascularization most commonly occurs in the peripheral fundus. In our patients, patterns of abnormalities in retinal vessels were similar to those of retinopathy of prematurity. However, patient 1 was not a premature infant. Although patient 2 was a premature infant who had received oxygen for 3 days, fundus abnormalities were limited to one eye. Both patients had no family history of familial exudative vitreoretinopathy. General examination ruled out incontinentia pigmenti. We think that abnormalities in retinal vessels may relate directly to the chromosomal abnormalities. If they were not treated, the affected eyes would probably develop retinal detachment similar to the case described in a patient with Turner syndrome by Mason and Tasman,5 who commented on the resemblance between the detachment and stage 5 retinopathy of prematurity. Abnormalities of retinal vessels may be one of the ocular findings associated with Turner syndrome. Early ophthalmic examination to diagnose and treat posterior ocular segment abnormalities should be considered.
Peripheral Retinal Neovascularization (Eales Disease) Associated With the Factor V Leiden Mutation Andrew W. Eller, MD, Franklin A. Bontempo, MD, Hawazin Faruki, DrPH, and Andrea Cortese Hassett, PhD PURPOSE: To illustrate a case of peripheral retinal neovascularization (Eales disease) in a patient who tested positive for the factor V Leiden mutation. METHODS: A 42–year–old woman had a 1-week history of blurred vision in her right eye. Her medical history was remarkable for a cerebrovascular accident. Ophthalmoscopy of the right eye disclosed a mild vitreous hemorrhage and a ridge of retinal neovascularization in the temporal periphery. The left fundus showed evidence of temporal retinal ischemia. A laboratory evaluation for hypercoagulability was positive for factor V Leiden mutation. RESULTS: Peripheral scatter laser photocoagulation was applied to the ischemic retina, and the neovascularization regressed. The patient began taking warfarin sodium to prevent further thrombotic events. CONCLUSION: A laboratory evaluation for coagulopathy, including the factor V Leiden mutation, should be added to the examination of patients with Eales disease, especially individuals with a history of a previous thrombotic event. (Am J Ophthalmol 1998;126:146 –149. © 1998 by Elsevier Science Inc. All rights reserved.)
Accepted for publication Jan 13, 1998. Departments of Ophthalmology (A.W.E.), Medicine (F.A.B.), and Pathology (A.C.H.), University of Pittsburgh School of Medicine; The Eye and Ear Institute (A.W.E.); and the Institute for Transfusion Medicine (F.A.B., H.F., A.C.H.). Inquiries to Andrew W. Eller, MD, The Eye and Ear Institute, 203 Lothrop St, Pittsburgh, PA 15213; fax: (412) 647–5119; e–mail: [email protected]
REFERENCES
1. Chrousos GA, Ross JL, Chrousos G, et al. Ocular findings in Turner’s syndrome: a prospective study. Ophthalmology 1984;91:926 –928. 2. Lessell S, Forbes AP. Eye signs in Turner’s syndrome. Arch Ophthalmol 1966;76:211–213.
146
AMERICAN JOURNAL
OF
OPHTHALMOLOGY
JULY 1998