Ophthalmic Paediatrics and Genetics
ISSN: 0167-6784 (Print) (Online) Journal homepage: http://www.tandfonline.com/loi/iopg19
Retinal Angioma and Juvenile Sex-Linked Retinoschisis J. J. De Laey, B. Heintz & L. Pollet To cite this article: J. J. De Laey, B. Heintz & L. Pollet (1992) Retinal Angioma and Juvenile Sex-Linked Retinoschisis, Ophthalmic Paediatrics and Genetics, 13:2, 73-76, DOI: 10.3109/13816819209087607 To link to this article: http://dx.doi.org/10.3109/13816819209087607
Published online: 08 Jul 2009.
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Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iopg19 Download by: [University of California, San Diego]
Date: 16 April 2016, At: 08:45
0 Aeolus Press Ophthalmic Paediatrics and Genetics 0167-6784/92/U8$3.50
(Accepted 30 January 1992)
Retinal angioma and juvenile sex-linked retinoschisis O J. J. DE LAEY'*, B. HEINTZ' and L. POLLET2
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
'Department of Ophthalmology, University Hospital, Ghent; 2Department of Ophthalmology, AZ St Jan, Brugge; Belgium
ABSTRACT. A 13-year-old boy presented with juvenile X-linked retinoschisis and in the right fundus a typical retinal angioma situated at the temporal site of the macula. A maternal uncle and a maternal grand uncle were known to be also affected by juvenile retinoschisis. Family history was negative for retinal angiomatosis. Extensive internal, neurologic and radiologic examinations did not reveal associated neurologic or visceral involvement in the affected child. The association of a retinal angioma and juvenile X-linked retinoschisis is most probably fortuitous. Key words: retinal angioma ; juvenile retinoschisis
INTRODUCTION Sex-linked retinoschisis is a hereditary condition of the neuro-retina, which involves both the posterior pole and the periphery of the fundus. Vascular changes such as incomplete vascularization of the peripheral retina', vascularized vitreous membranes2*3, peripheral retinal neovasculari~ a t i o n ~and - ~ even optic disc neovascularizat i ~ n have ~ . ~ been reported. Vascularized tumour-like masses were also diagnosed in eyes with X-linked retinoschisislOyl'. We discuss here the unusual association of X-linked juvenile retinoschisis with a retinal angioma. CASE REPORT This young boy born in May 1978 was first seen in Dedicated to Professor Barrie Jay
* Correspondence to: Prof. J . J. De Laey, Department of Ophthalmology, University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
the Eye Department of the University Hospital at the age of six months. His maternal uncle and his maternal grand-uncle were known to have juvenile sex-linked retinoschisis. At first examination an exotropia of the left eye was noted. The right fundus was apparently normal whereas in the left eye a large inferior retinoschisis extended up to the posterior pole. The ERG was characterized by normal a-waves and subnormal b-waves. No treatment was considered but a regular follow-up was advised. The child was at first regularly seen by his ophthalmologist but since no changes were observed the parents failed to return. He was capable to attend normal school. Because of poor school performances a control ophthalmological examination was suggested and the boy was examined in October 1991 by one of us (L. P.) and referred to the Eye Department of the University Hospital. Ocular examination revealed a n exotropia of the left eye. Visual acuity was 5/10 in the right eye and 1/20 in the left eye. Ophthalmoscopy showed macular retinoschisis and peripheral retinoschisis extending in the temporal and inferior fundus periphery. In the right eye a typical retinal angioma was situated at 3 disc diameters temporal to the macula. The angioma was 1.5 disc diameters large, whitish in
Ophthalmic Paediatrics and Genetics - 1992, Vol13, No. 2, pp. 73-76 0Aeolus Press Buren (The Netherlands) 1992
73
J. J . De Laey et al. tery. The angioma was drained by the supero-temporal vein. The retina temporal to the angioma was normally perfused (Fig. 2). Retinal vascular occlusions were noted in the inferior periphery (Fig. 3). The visual fields presented marked nasal and superior deficits. The EOG was normal (LID ratio 209% right eye and 251% left eye). The ERG awaves were normal in both eyes but the b-waves
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
colour and it was fed by the superotemporal retinal vessels which were markedly dilated up to the optic disc. A vitreous veil was attached at the superior pole of the angioma and extended up to the inferior retinoschisis (Fig. 1). No other retinal angiornas were seen. Fluorescein angiography revealed a rapid filling of the angioma by the supero-temporal artery and by a branch of the infero-temporal ar-
Fig. 1. Photo montage in red-free light of the fundus of the right eye,
74
Retinal angioma and juvenile sex-linked retinoschisis
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
Fig. 2. Ophthalmoscopic and fluoroangiographic appearance ot the retinal angioma
Fig. 3. Retinal vascular occlusions in the fundus periphery of the right eye.
were markedly reduced. Oscillatory potentials were abnormal in the right eye and absent in the left
eye. The child was extensively investigated. CT scans of the brain and of the abdomen were considered normal as well as a neurologic and a nephrologic examination and an abdominal echography. Twenty-four hours’ urinary catecholamines were within normal values. DISCUSSION This young boy presents the characteristic features of juvenile sex-linked retinoschisis. The diagnosis was confirmed by the positive family history and by the classical electrophysiological
findings of a normal a-wave and reduced b-wave suggesting that the primary defect is situated at the level of the bipolar cell layeri2-14. The patient presented also a typical retinal angioma in the right eye. The absence of systemic involvement and the negative family history as regards angiomatous tumours suggest the clinical diagnosis of von Hippel’s disease. In cases of retinal angiomas (von Hippel’s disease) a hereditary pattern is only found in 20 to 30% of the cases whereas von Hippel-Lindau’s disease with associated visceral and neurologic involvement is inherited in an autosomal dominant way with variable expressionis. It appears quite improbable that this boy associates two hereditary conditions, one sex-linked, the other one autosomal dominant. The question can be raised if the angioma is related to the dystrophic fundus process. As already mentioned retinal vascular lesions are not uncommon in sex-linked juvenile retinoschisis. Since Zamoranii6 described in 1956 as the first the association of Coats-like lesions and retinitis pigmentosa some 23 similar cases have been describedJ5.The most likely explanation of this association is that the vascular anomalies are due to the inflammatory response to degenerating outer segments of photorecept~rsl~. The Coatslike lesions may progress to angiomatous tumours very similar to those observed in pre-
-
75
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
J. J. De Laey et al. sumed retinal angiomatosis (adult Coats disease). These secondary vascular tumours are most frequently seen in the inferior periphery whereas von Hippel's angiomas are usually situated in the equatorial or pre-equatorial region but not necessarily in the inferior periphery. Acquired retinal angiomatosis is easily distinguished from classical retinal angiomas as these secondary tumours usually miss striking feeder vessels and are less circumscribed. The possibility that similar pseudotumoural lesions may be found in sex-linked retinoschisis is confirmed by the observations of Yanoff et al. l 1 and
by Laatikainen et al. lo. However, these cases were complicated by total retinal detachment which may also be a cause of acquired retinal angiomat~sis'~. If the angioma in our case was a consequence of the retinoschisis one would have expected it to be situated in the immediate vicinity of the occluded peripheral vessels, whereas the retina around the angioma and also more temporal appeared normally perfused on fluorescein angiography. For these reasons we believe that the association of retinal angioma and sex-linked juvenile retinoschisis is only fortuitous.
ACKNOWLEDGEMENTS H . Priem, M.D., performed the fluoroangiography and A. De Rouck, M.D., the electrophysiological tests.
REFERENCES 1. Van Nouhuys E. Dominant Exudative Vitreo-retinopathy and Other Vascular Developmental Disorders of the Peripheral
Retina. The Hague: Junk Pub1 1982; 320-326. 2. Arkfeld DF, Brockhurst RJ. Vascularized vitreous membranes in congenital retinoschisis. Retina 1987 ; 7 :20-23. 3. Keunen JEE, Hoppenbrouwers RWJH. A case of sex-linked juvenile retinoschisis with peripheral vascular anomalies. Ophthalmologica 1985; 191 : 146-149. 4. Ewing CC, Ives EJ. Juvenile hereditary retinoschisis. Trans Ophthalmol SOCUK 1969; 89: 29-39. 5 . Geiser EP, Falls HF. Hereditary retinoschisis. Am J Ophthalmol 1961 ; 51 : 1193-1200. 6. Pearson R, Jagger J. Sex-linked juvenile retinoschisis with optic disc and peripheral retinal neovascularization. Br J Ophthalmol 1989; 73 :31 1-313. 7. Sabates F. Juvenile retinoschisis. Am J Ophthalmol 1966; 62: 683-688. 8. Sarin LK, Green WR, Dailey EG. Juvenile retinoschisis. Am J Ophthalmol 1964; 57: 793-796. 9. Brancato R, Menchini U, Pece A. Retinoschisis maculaire idiopathique du sujet jeune associi a des neovaisseaux preretiniens et prkpapillaires. J Fr Ophtalmol 1984; 1 I :685-688. 10. Laatikainen L, Tarkkanen A , Saksela T. Hereditary X-linked retinoschisis and bilateral congenital detachment. Retina 1987; 7:24-27. 11. Yanoff M, Rahm EK, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol 1968 ; 79: 49-53. 12. Papst N, Bopp M, Remler B. Muster ERG bei X-chromosornaler juveniler Retinoschisis. Klin Mbl Augenheilk 1986; 188: 150-152. 13. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 1987; 105 :513-516. 14. Tanino T, Katsumi 0, Hirose T. Electrophysiological similarities between two eyes with X-linked recessive retinoschisis. Doc Ophthalmol 1985; 60: 149-161. IS. De Laey J J, Hanssens M. Vascular Tumors and Malformations of the Ocular Fundus. Dordrecht/Boston/London : Kluwer Acad Pub1 1990, 25-54, 193-209, 21 1-221. 16. Zamorani G. Una rare associazione di retinite di Coats con retinitis pigmentosa. G Ital Oftalmol 1956; 2:429-433. 17. Deutman AF. The Hereditary Dystrophies of the Posterior Pole of the Eye. Assen: Van Gorcum 1971 ; 49-98.
76
ISSN: 0167-6784 (Print) (Online) Journal homepage: http://www.tandfonline.com/loi/iopg19
Retinal Angioma and Juvenile Sex-Linked Retinoschisis J. J. De Laey, B. Heintz & L. Pollet To cite this article: J. J. De Laey, B. Heintz & L. Pollet (1992) Retinal Angioma and Juvenile Sex-Linked Retinoschisis, Ophthalmic Paediatrics and Genetics, 13:2, 73-76, DOI: 10.3109/13816819209087607 To link to this article: http://dx.doi.org/10.3109/13816819209087607
Published online: 08 Jul 2009.
Submit your article to this journal
Article views: 5
View related articles
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iopg19 Download by: [University of California, San Diego]
Date: 16 April 2016, At: 08:45
0 Aeolus Press Ophthalmic Paediatrics and Genetics 0167-6784/92/U8$3.50
(Accepted 30 January 1992)
Retinal angioma and juvenile sex-linked retinoschisis O J. J. DE LAEY'*, B. HEINTZ' and L. POLLET2
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
'Department of Ophthalmology, University Hospital, Ghent; 2Department of Ophthalmology, AZ St Jan, Brugge; Belgium
ABSTRACT. A 13-year-old boy presented with juvenile X-linked retinoschisis and in the right fundus a typical retinal angioma situated at the temporal site of the macula. A maternal uncle and a maternal grand uncle were known to be also affected by juvenile retinoschisis. Family history was negative for retinal angiomatosis. Extensive internal, neurologic and radiologic examinations did not reveal associated neurologic or visceral involvement in the affected child. The association of a retinal angioma and juvenile X-linked retinoschisis is most probably fortuitous. Key words: retinal angioma ; juvenile retinoschisis
INTRODUCTION Sex-linked retinoschisis is a hereditary condition of the neuro-retina, which involves both the posterior pole and the periphery of the fundus. Vascular changes such as incomplete vascularization of the peripheral retina', vascularized vitreous membranes2*3, peripheral retinal neovasculari~ a t i o n ~and - ~ even optic disc neovascularizat i ~ n have ~ . ~ been reported. Vascularized tumour-like masses were also diagnosed in eyes with X-linked retinoschisislOyl'. We discuss here the unusual association of X-linked juvenile retinoschisis with a retinal angioma. CASE REPORT This young boy born in May 1978 was first seen in Dedicated to Professor Barrie Jay
* Correspondence to: Prof. J . J. De Laey, Department of Ophthalmology, University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
the Eye Department of the University Hospital at the age of six months. His maternal uncle and his maternal grand-uncle were known to have juvenile sex-linked retinoschisis. At first examination an exotropia of the left eye was noted. The right fundus was apparently normal whereas in the left eye a large inferior retinoschisis extended up to the posterior pole. The ERG was characterized by normal a-waves and subnormal b-waves. No treatment was considered but a regular follow-up was advised. The child was at first regularly seen by his ophthalmologist but since no changes were observed the parents failed to return. He was capable to attend normal school. Because of poor school performances a control ophthalmological examination was suggested and the boy was examined in October 1991 by one of us (L. P.) and referred to the Eye Department of the University Hospital. Ocular examination revealed a n exotropia of the left eye. Visual acuity was 5/10 in the right eye and 1/20 in the left eye. Ophthalmoscopy showed macular retinoschisis and peripheral retinoschisis extending in the temporal and inferior fundus periphery. In the right eye a typical retinal angioma was situated at 3 disc diameters temporal to the macula. The angioma was 1.5 disc diameters large, whitish in
Ophthalmic Paediatrics and Genetics - 1992, Vol13, No. 2, pp. 73-76 0Aeolus Press Buren (The Netherlands) 1992
73
J. J . De Laey et al. tery. The angioma was drained by the supero-temporal vein. The retina temporal to the angioma was normally perfused (Fig. 2). Retinal vascular occlusions were noted in the inferior periphery (Fig. 3). The visual fields presented marked nasal and superior deficits. The EOG was normal (LID ratio 209% right eye and 251% left eye). The ERG awaves were normal in both eyes but the b-waves
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
colour and it was fed by the superotemporal retinal vessels which were markedly dilated up to the optic disc. A vitreous veil was attached at the superior pole of the angioma and extended up to the inferior retinoschisis (Fig. 1). No other retinal angiornas were seen. Fluorescein angiography revealed a rapid filling of the angioma by the supero-temporal artery and by a branch of the infero-temporal ar-
Fig. 1. Photo montage in red-free light of the fundus of the right eye,
74
Retinal angioma and juvenile sex-linked retinoschisis
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
Fig. 2. Ophthalmoscopic and fluoroangiographic appearance ot the retinal angioma
Fig. 3. Retinal vascular occlusions in the fundus periphery of the right eye.
were markedly reduced. Oscillatory potentials were abnormal in the right eye and absent in the left
eye. The child was extensively investigated. CT scans of the brain and of the abdomen were considered normal as well as a neurologic and a nephrologic examination and an abdominal echography. Twenty-four hours’ urinary catecholamines were within normal values. DISCUSSION This young boy presents the characteristic features of juvenile sex-linked retinoschisis. The diagnosis was confirmed by the positive family history and by the classical electrophysiological
findings of a normal a-wave and reduced b-wave suggesting that the primary defect is situated at the level of the bipolar cell layeri2-14. The patient presented also a typical retinal angioma in the right eye. The absence of systemic involvement and the negative family history as regards angiomatous tumours suggest the clinical diagnosis of von Hippel’s disease. In cases of retinal angiomas (von Hippel’s disease) a hereditary pattern is only found in 20 to 30% of the cases whereas von Hippel-Lindau’s disease with associated visceral and neurologic involvement is inherited in an autosomal dominant way with variable expressionis. It appears quite improbable that this boy associates two hereditary conditions, one sex-linked, the other one autosomal dominant. The question can be raised if the angioma is related to the dystrophic fundus process. As already mentioned retinal vascular lesions are not uncommon in sex-linked juvenile retinoschisis. Since Zamoranii6 described in 1956 as the first the association of Coats-like lesions and retinitis pigmentosa some 23 similar cases have been describedJ5.The most likely explanation of this association is that the vascular anomalies are due to the inflammatory response to degenerating outer segments of photorecept~rsl~. The Coatslike lesions may progress to angiomatous tumours very similar to those observed in pre-
-
75
Downloaded by [University of California, San Diego] at 08:45 16 April 2016
J. J. De Laey et al. sumed retinal angiomatosis (adult Coats disease). These secondary vascular tumours are most frequently seen in the inferior periphery whereas von Hippel's angiomas are usually situated in the equatorial or pre-equatorial region but not necessarily in the inferior periphery. Acquired retinal angiomatosis is easily distinguished from classical retinal angiomas as these secondary tumours usually miss striking feeder vessels and are less circumscribed. The possibility that similar pseudotumoural lesions may be found in sex-linked retinoschisis is confirmed by the observations of Yanoff et al. l 1 and
by Laatikainen et al. lo. However, these cases were complicated by total retinal detachment which may also be a cause of acquired retinal angiomat~sis'~. If the angioma in our case was a consequence of the retinoschisis one would have expected it to be situated in the immediate vicinity of the occluded peripheral vessels, whereas the retina around the angioma and also more temporal appeared normally perfused on fluorescein angiography. For these reasons we believe that the association of retinal angioma and sex-linked juvenile retinoschisis is only fortuitous.
ACKNOWLEDGEMENTS H . Priem, M.D., performed the fluoroangiography and A. De Rouck, M.D., the electrophysiological tests.
REFERENCES 1. Van Nouhuys E. Dominant Exudative Vitreo-retinopathy and Other Vascular Developmental Disorders of the Peripheral
Retina. The Hague: Junk Pub1 1982; 320-326. 2. Arkfeld DF, Brockhurst RJ. Vascularized vitreous membranes in congenital retinoschisis. Retina 1987 ; 7 :20-23. 3. Keunen JEE, Hoppenbrouwers RWJH. A case of sex-linked juvenile retinoschisis with peripheral vascular anomalies. Ophthalmologica 1985; 191 : 146-149. 4. Ewing CC, Ives EJ. Juvenile hereditary retinoschisis. Trans Ophthalmol SOCUK 1969; 89: 29-39. 5 . Geiser EP, Falls HF. Hereditary retinoschisis. Am J Ophthalmol 1961 ; 51 : 1193-1200. 6. Pearson R, Jagger J. Sex-linked juvenile retinoschisis with optic disc and peripheral retinal neovascularization. Br J Ophthalmol 1989; 73 :31 1-313. 7. Sabates F. Juvenile retinoschisis. Am J Ophthalmol 1966; 62: 683-688. 8. Sarin LK, Green WR, Dailey EG. Juvenile retinoschisis. Am J Ophthalmol 1964; 57: 793-796. 9. Brancato R, Menchini U, Pece A. Retinoschisis maculaire idiopathique du sujet jeune associi a des neovaisseaux preretiniens et prkpapillaires. J Fr Ophtalmol 1984; 1 I :685-688. 10. Laatikainen L, Tarkkanen A , Saksela T. Hereditary X-linked retinoschisis and bilateral congenital detachment. Retina 1987; 7:24-27. 11. Yanoff M, Rahm EK, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol 1968 ; 79: 49-53. 12. Papst N, Bopp M, Remler B. Muster ERG bei X-chromosornaler juveniler Retinoschisis. Klin Mbl Augenheilk 1986; 188: 150-152. 13. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 1987; 105 :513-516. 14. Tanino T, Katsumi 0, Hirose T. Electrophysiological similarities between two eyes with X-linked recessive retinoschisis. Doc Ophthalmol 1985; 60: 149-161. IS. De Laey J J, Hanssens M. Vascular Tumors and Malformations of the Ocular Fundus. Dordrecht/Boston/London : Kluwer Acad Pub1 1990, 25-54, 193-209, 21 1-221. 16. Zamorani G. Una rare associazione di retinite di Coats con retinitis pigmentosa. G Ital Oftalmol 1956; 2:429-433. 17. Deutman AF. The Hereditary Dystrophies of the Posterior Pole of the Eye. Assen: Van Gorcum 1971 ; 49-98.
76
