- Email: [email protected]
Persistent Fetal Vasculature Associated with Orbital Lymphangioma
Persistent Fetal Vasculature Associated with Orbital Lymphangioma Christopher P. R. Williams, MRCP, MRCOphth, Catherine S. Marsh, FRCOphth, and Peter R. Hodgkins, FRCOphth Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a failure of regression of the primary vitreous, which usually occurs in isolation. Orbital lymphangiomas present in early life with eyelid swelling or proptosis and are not associated with intraocular abnormalities. We report the case of a male infant with PHPV and ipsilateral orbital lymphangioma.
CASE REPORT A 6-week-old boy presented to the pediatric ophthalmology clinic with left leukocoria and periocular swelling. His mother had taken carbamazepine for epilepsy throughout her pregnancy, which was otherwise normal. No family history of ocular abnormality existed. On examination he was found to have a microphthalmic left eye with a fibrovascular retrolental mass. Ultrasound scan demonstrated a hyaloid artery and an abnormal posterior segment, consistent with persistent fetal vasculature (PFV) and associated retinal detachment. The right eye was normal. In addition, the infant had left periocular swelling, proptosis, and poor eyelid opening (Figure 1). CT scan revealed tissue of abnormal density around and behind the left globe with patchy contrast enhancement. Orbital ultrasound showed an area of blood flow to feeder vessels and the lesion was felt to be a lymphangioma with a deeper vascular component. Systemic work-up revealed no other abnormality. At age 15 months he developed acute worsening of the periorbital swelling and proptosis. Magnetic resonance imaging confirmed a lobulated collection of blood behind the globe (Figure 2) as well as a smaller optic nerve on the left than the right. He was managed conservatively, with
From the Southampton Eye Unit, Southampton General Hospital, Tremona Road, Southampton, United Kingdom. Financial Conflicts: None. Submitted July 1, 2005. Revision accepted January 17, 2006. Reprint requests: Christopher P. R. Williams, Room OC27, Mailpoint 104, Southampton Eye Unit, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, United Kingdom (e-mail: [email protected]). J AAPOS 2006;10:285-286. Copyright © 2006 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/2006/$35.00 ⫹ 0 doi:10.1016/j.jaapos.2006.01.215
Journal of AAPOS
close observation, allowing the swelling to settle. He has remained clinically unchanged for the past 3 years.
DISCUSSION PFV represents a developmental abnormality which is part of the wider spectrum of anomalies known as persistent fetal vasculature. Although sometimes associated with other intraocular abnormalities and systemic syndromes, most cases are sporadic and unilateral. PFV is thought to occur due to a failure of apoptosis of the fetal vascular system1 and consists of a mass of retrolental white tissue, often with visible blood vessels, associated with a variable degree of microphthalmos or microcornea.2 A number of recent studies have reported preservation of “useful vision” following surgical intervention to remove the abnormal tissue and cataract. Aggressive postoperative anti-amblyopia therapy is required, often with contact lens correction of aphakia. Some 30% require further surgery, whether aphakic or pseudophakic.3 Strict case selection is needed, as preoperative retinal or optic nerve abnormalities are particularly associated with poor outcomes.3 Our case showed a severely abnormal posterior segment indicating low visual potential. After full discussion with the parents, surgery was not undertaken. Lymphangiomas have been defined as “hemodynamically isolated vascular hamartomas.”4 Histologically they consist of diaphanous, serous-filled vascular channels. Superficially there are multiple conjunctival, eyelid, and occasionally oral mucosal cysts.5 Deeper components show venous features and may be massive. Cosmetic disfigurement can be caused by the eyelid changes or proptosis. The lesions may enlarge acutely due to bleeding, as in our case, or more gradually and orbital fibrosis may develop over time. Lymphangiomas show poorly defined margins on CT with heterogeneous enhancement with contrast, and no connection to the vascular system. There may be associated noncontiguous intracranial vascular anomalies that can bleed,6 but there are no reports of other associations such as PFV. Conservative treatment is recommended wherever possible as resection is difficult because the lesion is not encapsulated. Surgery may be indicated for cosmesis, ocular motility disturbance, prevention of amblyopia, or optic nerve decompression. Capillary hemangiomas have been reported in association with intraocular anomalies, specifically “morning glory” optic discs,7 peripapillary staphyloma,8 and congenJune 2006
285
286 Williams, Marsh, and Hodgkins
Journal of AAPOS Volume 10 Number 3 June 2006
reported case of lymphangioma associated with PFV. We could hypothesize that some posterior intraocular (choroidal?) vascular abnormality associated with the lymphangioma was in part responsible for the failure of fetal vasculature to regress. Alternatively the orbital lesion may have altered globe venous outflow, disrupting fetal vascular development. The role of maternal exposure to carbamazepine is unclear. Although occasional case reports of ocular malformations in association with this drug exist,11,12 a recent large database study and literature review has not confirmed an association.13We also have not found any previous report of PHPV or lymphangioma occurring in association with carbamazepine. FIG 1. Left upper eyelid swelling evident at 11 weeks old.
FIG 2. Gadolinium-enhanced MRI showing retro-orbital bleeding, small left eye, and periorbital swelling. Chronic proteinaceous subretinal fluid is also seen.
ital glaucoma as part of the PHACE syndrome.9 In addition orbital hemangioma occurring with optic nerve hypoplasia and lens coloboma has been described.10 However we could find no association between orbital lymphangioma and ocular anomalies and this is therefore the first
References 1. Reese AB. Persistence and hyperplasia of primary vitreous: retrolental fibroplasia—two entities. Arch Ophthalmol 1949;41:527-52. 2. Goldberg MF. Persistent fetal vasculature (PFV): an integrated interpretations of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). Edward Jackson Memorial Lecture. Am J Ophthalmol 1997;124:582-626. 3. Bawa Dass A, Trese MT. Surgical results of persistent hyperplastic primary vitreous. Ophthalmology 1999;106:280-4. 4. Rootman J, Graeb D. Vascular lesions. In: Rootman J, editor. Diseases of the Orbit, 2nd Ed. Philadelphia: Lippincott Williams & Wilkins; 2003. Chapter 14. 5. Wright JE, Sullivan TJ, Garner A, Wulc AE, Mosely IF. Orbital venous anomalies. Ophthalmology 1997;104:905-13. 6. Katz SE, Rootman J, Vangveeravong S, Graeb D. Combined venous lymphatic malformations of the orbit (so-called lymphangiomas). Ophthalmology 1998;105:176-84. 7. Holmstrom G, Taylor D. Capillary haemangiomas in association with morning glory disc anomaly. Acta Ophthalmol Scand 1998;76: 613-6. 8. Kiratli H, Bozkurt B, Mocan C. Peripapillary staphyloma associated with orofacial capillary hemangioma. Ophthalmic Genet 2001;22: 249-53. 9. Coats DK, Paysse EA, Levy ML. PHACE: a neurocutaneous syndrome with important ophthalmological implications: case report and literature review. Ophthalmology 1999;106:1739-41. 10. Fard AK, Traboulsi EI. Coloboma of the lens, optic nerve hypoplasia, and orbital hemangioma—a possible developmental field defect. Ophthalmic Genet 1998;19:209-12. 11. Sutcliffe AG, Jones RB, Woodruff G. Eye malformations associated with treatment with carbamazepine during pregnancy. Ophthalmic Genet 1998;19:59-62. 12. Glover SJ, Quinn AG, Barter P, Hart J, Moore SJ, Dean JCS, et al. Ophthalmic findings in fetal anticonvulsant syndrome(s). Ophthalmology 2002;109:942-7. 13. Kroes HY, Reefhuis J, Cornel MC. Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child? Epilepsia 2002;43:929-31.
CASE REPORT A 6-week-old boy presented to the pediatric ophthalmology clinic with left leukocoria and periocular swelling. His mother had taken carbamazepine for epilepsy throughout her pregnancy, which was otherwise normal. No family history of ocular abnormality existed. On examination he was found to have a microphthalmic left eye with a fibrovascular retrolental mass. Ultrasound scan demonstrated a hyaloid artery and an abnormal posterior segment, consistent with persistent fetal vasculature (PFV) and associated retinal detachment. The right eye was normal. In addition, the infant had left periocular swelling, proptosis, and poor eyelid opening (Figure 1). CT scan revealed tissue of abnormal density around and behind the left globe with patchy contrast enhancement. Orbital ultrasound showed an area of blood flow to feeder vessels and the lesion was felt to be a lymphangioma with a deeper vascular component. Systemic work-up revealed no other abnormality. At age 15 months he developed acute worsening of the periorbital swelling and proptosis. Magnetic resonance imaging confirmed a lobulated collection of blood behind the globe (Figure 2) as well as a smaller optic nerve on the left than the right. He was managed conservatively, with
From the Southampton Eye Unit, Southampton General Hospital, Tremona Road, Southampton, United Kingdom. Financial Conflicts: None. Submitted July 1, 2005. Revision accepted January 17, 2006. Reprint requests: Christopher P. R. Williams, Room OC27, Mailpoint 104, Southampton Eye Unit, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, United Kingdom (e-mail: [email protected]). J AAPOS 2006;10:285-286. Copyright © 2006 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/2006/$35.00 ⫹ 0 doi:10.1016/j.jaapos.2006.01.215
Journal of AAPOS
close observation, allowing the swelling to settle. He has remained clinically unchanged for the past 3 years.
DISCUSSION PFV represents a developmental abnormality which is part of the wider spectrum of anomalies known as persistent fetal vasculature. Although sometimes associated with other intraocular abnormalities and systemic syndromes, most cases are sporadic and unilateral. PFV is thought to occur due to a failure of apoptosis of the fetal vascular system1 and consists of a mass of retrolental white tissue, often with visible blood vessels, associated with a variable degree of microphthalmos or microcornea.2 A number of recent studies have reported preservation of “useful vision” following surgical intervention to remove the abnormal tissue and cataract. Aggressive postoperative anti-amblyopia therapy is required, often with contact lens correction of aphakia. Some 30% require further surgery, whether aphakic or pseudophakic.3 Strict case selection is needed, as preoperative retinal or optic nerve abnormalities are particularly associated with poor outcomes.3 Our case showed a severely abnormal posterior segment indicating low visual potential. After full discussion with the parents, surgery was not undertaken. Lymphangiomas have been defined as “hemodynamically isolated vascular hamartomas.”4 Histologically they consist of diaphanous, serous-filled vascular channels. Superficially there are multiple conjunctival, eyelid, and occasionally oral mucosal cysts.5 Deeper components show venous features and may be massive. Cosmetic disfigurement can be caused by the eyelid changes or proptosis. The lesions may enlarge acutely due to bleeding, as in our case, or more gradually and orbital fibrosis may develop over time. Lymphangiomas show poorly defined margins on CT with heterogeneous enhancement with contrast, and no connection to the vascular system. There may be associated noncontiguous intracranial vascular anomalies that can bleed,6 but there are no reports of other associations such as PFV. Conservative treatment is recommended wherever possible as resection is difficult because the lesion is not encapsulated. Surgery may be indicated for cosmesis, ocular motility disturbance, prevention of amblyopia, or optic nerve decompression. Capillary hemangiomas have been reported in association with intraocular anomalies, specifically “morning glory” optic discs,7 peripapillary staphyloma,8 and congenJune 2006
285
286 Williams, Marsh, and Hodgkins
Journal of AAPOS Volume 10 Number 3 June 2006
reported case of lymphangioma associated with PFV. We could hypothesize that some posterior intraocular (choroidal?) vascular abnormality associated with the lymphangioma was in part responsible for the failure of fetal vasculature to regress. Alternatively the orbital lesion may have altered globe venous outflow, disrupting fetal vascular development. The role of maternal exposure to carbamazepine is unclear. Although occasional case reports of ocular malformations in association with this drug exist,11,12 a recent large database study and literature review has not confirmed an association.13We also have not found any previous report of PHPV or lymphangioma occurring in association with carbamazepine. FIG 1. Left upper eyelid swelling evident at 11 weeks old.
FIG 2. Gadolinium-enhanced MRI showing retro-orbital bleeding, small left eye, and periorbital swelling. Chronic proteinaceous subretinal fluid is also seen.
ital glaucoma as part of the PHACE syndrome.9 In addition orbital hemangioma occurring with optic nerve hypoplasia and lens coloboma has been described.10 However we could find no association between orbital lymphangioma and ocular anomalies and this is therefore the first
References 1. Reese AB. Persistence and hyperplasia of primary vitreous: retrolental fibroplasia—two entities. Arch Ophthalmol 1949;41:527-52. 2. Goldberg MF. Persistent fetal vasculature (PFV): an integrated interpretations of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). Edward Jackson Memorial Lecture. Am J Ophthalmol 1997;124:582-626. 3. Bawa Dass A, Trese MT. Surgical results of persistent hyperplastic primary vitreous. Ophthalmology 1999;106:280-4. 4. Rootman J, Graeb D. Vascular lesions. In: Rootman J, editor. Diseases of the Orbit, 2nd Ed. Philadelphia: Lippincott Williams & Wilkins; 2003. Chapter 14. 5. Wright JE, Sullivan TJ, Garner A, Wulc AE, Mosely IF. Orbital venous anomalies. Ophthalmology 1997;104:905-13. 6. Katz SE, Rootman J, Vangveeravong S, Graeb D. Combined venous lymphatic malformations of the orbit (so-called lymphangiomas). Ophthalmology 1998;105:176-84. 7. Holmstrom G, Taylor D. Capillary haemangiomas in association with morning glory disc anomaly. Acta Ophthalmol Scand 1998;76: 613-6. 8. Kiratli H, Bozkurt B, Mocan C. Peripapillary staphyloma associated with orofacial capillary hemangioma. Ophthalmic Genet 2001;22: 249-53. 9. Coats DK, Paysse EA, Levy ML. PHACE: a neurocutaneous syndrome with important ophthalmological implications: case report and literature review. Ophthalmology 1999;106:1739-41. 10. Fard AK, Traboulsi EI. Coloboma of the lens, optic nerve hypoplasia, and orbital hemangioma—a possible developmental field defect. Ophthalmic Genet 1998;19:209-12. 11. Sutcliffe AG, Jones RB, Woodruff G. Eye malformations associated with treatment with carbamazepine during pregnancy. Ophthalmic Genet 1998;19:59-62. 12. Glover SJ, Quinn AG, Barter P, Hart J, Moore SJ, Dean JCS, et al. Ophthalmic findings in fetal anticonvulsant syndrome(s). Ophthalmology 2002;109:942-7. 13. Kroes HY, Reefhuis J, Cornel MC. Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child? Epilepsia 2002;43:929-31.