Retinal Capillary Hemangioma Research Articles

Solitary retinal capillary hemangioma: Lack of genetic evidence for von Hippel-Lindau disease

Purpose: To report the results of genetic testing for von Hippel-Lindau (VHL) disease in patients presenting with solitary retinal capillary hemangioma (RCH). Methods: Ten patients with solitary RCH, who were excluded clinically as having VHL disease, underwent genetic testing using a combination of Southern blot, conformation sensitive gel electrophoresis, and direct sequence analysis. The results of the genetic tests were used to refine the empiric risk for VHL disease using principles of probability. Results: Genetic testing for VHL disease was negative for mutation in all patients. The negative results of the genetic tests diminished the empiric risk for VHL disease by 100-fold. Conclusions: Solitary RCH can occur sporadically or be associated with VHL disease. In addition to clinical evaluation, genetic testing should be considered to exclude VHL disease with a high level of certainty.

Retinal capillary hemangioma: a comparison of sporadic cases and cases associated with von Hippel-Lindau disease

Objective To report observations regarding the onset of tumors in patients with retinal capillary hemangiomas (RCH) and comparing sporadic cases with those associated with von Hippel-Lindau (VHL) disease. Design Retrospective consecutive case series. Participants Sixty-eight patients with RCH managed at a tertiary referral center. Main outcome measures The data were analyzed for age at diagnosis of RCH, two-hit mutation model, onset of new tumors, and random (Poisson) distribution. Results Among 68 patients, we identified 174 RCHs in 86 eyes. Thirty-one patients had VHL disease, and 37 patients were sporadic. The median age at diagnosis in cases with VHL disease was 17.6 years (range, 2.8–46.7 years), and in those without VHL disease it was 36.1 years (range, 7.0–74 years). The age distribution of RCH followed a two-hit mutation model. In eyes with VHL disease, the total number of RCH were distributed randomly as calculated by the Poisson distribution (mean number of tumors = 4). Overall onset of 33 new tumors was documented in 11 eyes (13%) over a median interval of 16 months (range, 3–235 months). All new tumors developed before the age of 47 years. The retinal location of new tumors was similar to the previous tumors with most new tumors located in the superotemporal quadrant (42%) and in the midperipheral retina (58%). Of the 50 patients initially manifesting solitary RCH, only 4 had new tumors develop over a median follow-up duration of 6.4 years (range, 0–33 years). All four cases had VHL disease. Conclusions The median age at diagnosis of RCH in patients with VHL disease was almost 18 years less than those without VHL disease. The age distribution of RCH followed the two-hit mutation model. In VHL disease, the number of RCH is determined randomly. Most of the new RCH develop by the age of 47 years. In the absence of VHL disease, it is unlikely for patients with solitary RCH to develop new tumors.

Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting, April 29???May 4, 2001

Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting, April 29???May 4, 2001

Transpupillary Thermotherapy for Retinal Capillary Hemangioma in von Hippel-Lindau Disease

Retinal capillary hemangiomas are a common manifestation of von Hippel-Lindau disease. We report the treatment of a peripapillary retinal capillary hemangioma in the left eye of a 30-year-old woman with this condition, using infrared diode laser transpupillary thermotherapy (TTT). The hemangioma was evaluated before and after treatment by ophthalmoscopy, fundus fluorescein angiography, and Doppler ultrasonography. Infrared diode laser TTT was delivered over 3 sessions during a period of 22 weeks, resulting in an improvement in visual acuity from counting fingers to 6/24 and a marked decrease in exudates surrounding the hemangioma. Doppler ultrasonography demonstrated a decrease in intralesional blood flow from 7 cm per second to less than 3 cm per second, together with a decrease in the size of the lesion. Infrared diode laser TTT provides a useful modality in the treatment of retinal capillary hemangiomas, and may be particularly favorable for peripapillary lesions because of its relatively nondestructive characteristics.

Ruthenium-106 brachytherapy for peripheral retinal capillary hemangioma

Objective This study aimed to evaluate the efficacy and safety of ruthenium-106 brachytherapy of large peripheral retinal capillary hemangiomas. Design A retrospective case series. Participants In 25 eyes of 24 patients, peripheral capillary retinal hemangiomas were treated. Intervention Brachytherapy using 106-ruthenium/106-rhodium plaques was performed. Main outcome measures Eyes were reviewed for hemangioma regression after brachytherapy, occurrence of retinal detachment, requirement of additional vitreoretinal surgery, final visual outcome, and final retinal status. Results Preoperative mean visual acuity of all eyes treated was 20/60, mean hemangioma diameter was 3.8 mm, corresponding to approximately 2 disc diameters. In 14 eyes, the retina was attached before surgery, 8 eyes showed an exudative detachment, and 3 eyes showed a traction detachment. Fifteen patients had definite von Hippel-Lindau syndrome. Twenty-three of 25 hemangiomas could be destroyed by single brachytherapy. In 16 eyes, a favorable outcome could be achieved. In nine eyes, outcome was unfavorable, characterized by a severe drop in visual acuity, a persisting exudative retinal detachment, or a recurrent traction detachment. In one eye requiring repeated brachytherapy, irradiation retinopathy occurred. Hemangiomas up to a size of approximately 5.0 mm without preoperative exudative detachment could be treated safely by brachytherapy, whereas a larger hemangioma size or a pre-existing exudative retinal detachment predisposed to an unfavorable outcome. Conclusion Solitary peripheral retinal hemangioma can be ablated effectively by ruthenium-106 brachytherapy. A favorable outcome can be expected if the hemangioma diameter is 5.0 mm or smaller and if there is no preoperative exudative retinal detachment.

Retinal Capillary Hemangioma in Marshall-Stickler Syndrome

Retinal capillary hemangioma, often associated with von Hippel-Lindau syndrome, is not characteristically seen in other conditions. We report a patient with Marshall-Stickler syndrome who had a retinal capillary hemangioma. A 31-year-old man with Marshall-Stickler syndrome was evaluated for a retinal vascular tumor. Evaluation showed a retinal capillary hemangioma of the von Hippel type. Magnetic resonance imaging disclosed no tumors of brain, kidney, or other organs. The retinal tumor was treated with cryotherapy. Retinal capillary hemangioma is not pathognomonic of von Hippel-Lindau syndrome, and it may be associated with the Marshall-Stickler syndrome.

The Role of Magnetic Resonance Imaging in Children with Intraocular Tumors and Simulating Lesions

To evaluate the role of pre- and post-contrast magnetic resonance (MR) studies in children with intraocular tumors and simulating lesions. Patients younger than 12 years of age with the diagnosis of an intraocular tumor or simulating lesion with a thickness greater than 2.0 mm underwent pre- and post-contrast MR studies with surface coil. All post-contrast-enhanced images were performed with fat suppression techniques. There were 40 children with the clinical diagnosis of an intraocular lesion as follows: retinoblastoma (n = 22), Coats disease (n = 5), ciliary body medulloepithelioma (n = 2), primary hyperplastic persistent vitreous (PHPV) (n = 2), retinal capillary hemangioma (n = 3), massive retinal gliosis (phthisis bulbi) (n = 2), uveal melanoma (n = 1), ciliary body leiomyoma (n = 1), retinopathy of prematurity (ROP) with total retinal detachment (n = 1), and post-traumatic retinal gliosis (n = 1). In the authors' series, solid intraocular tumors greater than 2.0 mm in thickness such as retinoblastoma, ciliary body medulloepithelioma, leiomyoma, choroidal melanoma, and retinal capillary hemangioma appeared hyperintense on T1-weighted images and hypointense on T2-weighted images. Secondary serous or exudative retinal detachment, regardless of the underlying etiology (neoplasm, Coats disease, PHPV, phthisis bulbi, ROP), showed hyperintensity of the subretinal space on both T1- and T2-weighted images. Retinal gliosis was hypointense on both T1- and T2-weighted images. On contrast-enhanced T1-weighted images with fat suppression techniques, minimal to marked enhancement was observed in retinoblastoma, medulloepithelioma, retinal capillary hemangioma, leiomyoma, and choroidal melanoma. No enhancement was demonstrated in the subretinal space of Coats disease, PHPV, ROP, and in retinal gliosis. Calcification was identified in 54% of retinoblastoma tumors on MR sequences. Calcification showed low signal intensity on both T1- and T2-weighted images, with lack of enhancement on contrast-enhanced sequences, thus differentiating it from surrounding tumor or tissue necrosis. The associated serous or exudative subretinal fluid secondary to intraocular tumors or simulating lesions did not demonstrate enhancement after contrast administration, therefore differentiating it from the causative lesion. Pre- and post-contrast MR studies allowed differentiation of solid intraocular tumors such as retinoblastoma, medulloepithelioma, retinal capillary hemangioma, leiomyoma, and choroidal melanoma from intraocular lesions with primary retinal detachment such as Coats disease, PHPV, massive retinal gliosis (phthisis bulbi), ROP, and associated subretinal fluid or hemorrhage. Heterogeneity within retinoblastoma suggests foci of tumor necrosis and/or calcification. The various solid intraocular tumors were not reliably differentiated from one another based on MR features.

P 409 Quantification of aqueous flare with the laser flare cell meter after lasercoagulation of a retinal capillary haemangioma

P 409 Quantification of aqueous flare with the laser flare cell meter after lasercoagulation of a retinal capillary haemangioma

Quantification of aqueous flare with the laser flare cell meter after lasercoagulation of a retinal capillary haemangioma.

Quantification of aqueous flare with the laser flare cell meter after lasercoagulation of a retinal capillary haemangioma.

Von Hippel-Lindau disease manifesting as a chiasmal syndrome

A 21-year-old woman presented with a two year history of progressive loss of vision in the left eye. Brain MRI revealed a supresellar mass felt to be most consistent with a meningioma. However, pathologic examination including special stains disclosed features characteristic of hemangioblastoma. Further evaluation established the diagnosis of von Hippel-Lindau disease by demonstrating retinal capillary hemangiomas, small renal and hepatic cysts, and cervico-medullary masses later confirmed to be hemangioblastomas. To date, no other family members have displayed features of this inherited syndrome.

THE EXPANDING ROLE OF LASER PHOTOCOAGULATION FOR INTRAOCULAR TUMORS

Methods of management for intraocular tumors include observation, radiotherapy, surgery, and laser therapy. Indications for and techniques of laser photocoagulation in the management of intraocular tumors have never been clearly defined in one report, however. A review of selected cases of choroidal and retinal tumors treated with laser therapy between 1974 and 1993 was conducted, as was the literature on laser treatment of intraocular tumors. Based on these observations, indications for, techniques of, and results of laser treatment of selected intraocular tumors are discussed. The results suggest that the preferred technique of laser treatment varies with the type of tumor. Small melanomas are treated by two or three sessions of laser around the tumor and subsequent heavy treatment directly to the tumor. Choroidal nevus with serous detachment of the fovea is treated by either delimiting laser or direct treatment of focal leaks, depending on the distance of the lesion from the foveola. Choroidal hemangiomas are treated by light to medium photocoagulation over the tumor surface to create chorioretinal adhesion and reattachment of the retina. A small retinoblastoma is best treated by surrounding the tumor with heavy laser to destroy its blood supply without treating the lesion directly. Retinal capillary hemangioma can be treated by heavy direct laser application to the tumor, or by obliterating first the feeding artery and later the draining vein. Laser photocoagulation is an acceptable therapeutic option for selected benign and malignant intraocular tumors, and its role in the overall management of patients with intraocular tumors is expanding.

Retinal Manifestations of Neurofibromatosis

Five patients presented with vision-threatening retinal tumors and systemic signs of neurofibromatosis, including neurofibromatosis type 1 (four patients) and familial cafe-au-lait spots (one patient). These tumors included large retinal astrocytic hamartomas, multiple retinal capillary hemangiomas, and combined hamartomas of the retina and retinal pigment epithelium, which resulted in rubeotic glaucoma, vitreous hemorrhage, and retinal detachment. Surgical therapy included retinal cryopexy, xenon and argon photocoagulation, scleral buckling, and pars plana vitrectomy with excisional retinal biopsy. Retinal tumors may result in marked visual loss in patients with neurofibromatosis, and vitreoretinal surgery may restore useful vision in some of these patients.

RETINAL HEMANGIOMA-LIKE LESIONS IN EYES WITH RETINITIS PIGMENTOSA

The authors report two patients with bilateral vascular masses of the peripheral retina associated with primary pigmentary dystrophy of the retina (retinitis pigmentosa). Although they are most similar to the retinal capillary hemangiomas of von Hippel, the affected patients had no clinical history or clinical findings suggestive of that syndrome. They differ from the calcified retinal hamartomas that have been associated with retinitis pigmentosa because they do not show the extensive telangiectasia and exudation seen with the exudative retinopathy that has been described with retinitis pigmentosa. They do not show the fluorescein angiographic pattern that characterizes peripheral choroidal neovascularization. Their main complication seems to be vitreous hemorrhage rather than exudative retinopathy. The authors discuss the possible relationship of these acquired retinal vascular masses to the retinitis pigmentosa.

Juxtapapillary Exophytic Retinal Capillary Hemangioma Treated by Yellow Krypton (568 nm) Laser Photocoagulation

A 30-year-old man was found to have juxtapapillary exophytic capillary hemangioma complicated by circinate maculopathy and peripapillary exudative retinal detachment. The diagnosis was made from the appearance of the tumor and confirmed by fluorescein angiography. The presence of intermittent hematuria associated with a cystic kidney supported the diagnosis of von- Hippel-Lindau disease. subsequently, and attempt to treat the vascular lesion by yellow krypton (586 nm) laser photocoagulation failed to arrest the progression of the exudative retinal detachment, which finally became total.

Classification and management of hereditary retinal angiomas.

Two distinct types of retinal angiomas are currently recognized. Capillary hemangiomas occur most characteristically as part of the von Hippel-Lindau syndrome. The retinal capillary hemangiomas typically appear as globular red-orange tumors with dilated and tortuous afferent arterioles and efferent venules. Cavernous hemangiomas typically appear as grape-like clusters of dilated vascular sacs without pronounced alteration in the adjacent arterioles and venules. The spectrum of clinical features of these two types of hemangiomatosis and current approaches to management of patients with these disorders is reviewed.

A family with Von Hippel-Lindau disease with different presentations

Objective: To report three cases of Von Hippel-Lindau (VHL) disease from a family with different presentations.Method: Case series.Results: Case 1, a 14-year-old Malay boy with a history of gradual blurring of vision in both eyes presented with sudden deterioration of right vision. Fundus examination revealed bilateral retinal capillary hemangioma with exudative retinal detachment. His right eye underwent combination therapy of laser photocoagulation, cryotherapy, intravitreal anti-VEGF and photodynamic therapy, but failed to improve vision. His left visiondeteriorated and eventually required surgical intervention. Case 2 was the sister of case 1. She was a 17-year-old Malay girl who presented with sudden onset of left eye pain and redness. Diagnosis of left eye rubeotic glaucoma with closed funnel retinal detachment secondary to a huge retinal hemangioma was made. She underwent left eye external drainage of subretinal fluid plus anterior retinal cryopexy. The rubeotic vessel regressed postoperatively and IOP reduced. Case 3 was the eldest sister of case 1; a 19-year-old Malay girl who came for eye screening after two of her siblings were diagnosed with VHL. She was, however, asymptomatic. Fundus examination revealed right retinal capillary hemangioma. She was treated with laser photocoagulation and her condition remained stable. Systemic investigations identified midline cystic masses in the brain, spine and pancreas. Conclusions: This case series highlight different clinical pictures of Von Hippel-Lindau disease. As marked visual loss is a dreadful sequela of VHL, it is important to screen the family members as early detection and management of ocular and systemic lesions save sight and life.