Retinal Hemangioma Research Articles

Small choroidal melanoma and pseudomelanomas: methods of differential diagnostics. Part 1

Choroidal melanoma is a malignant tumor prone to early metastasis. Its clinical picture is polymorphic, as a result of which it can simulate many diseases of the fundus, which are referred to in the literature as pseudomelanomas. Among these are: choroidal nevus, localized choroidal hemangioma, melanocytomas, choroidal metastatic carcinoma, congenital hypertrophy of retinal pigment epithelium, late stage of age-related macular degeneration, focal retinal choroiditis, organized subretinal hemorrhage, retinal hemangiomas. However, studies comparing the clinical signs of all listed pseudomelanomas and small choroidal melanoma are few. The first part of the review describes the ophthalmoscopic picture of the small choroidal melanoma and pseudomelanomas.

Photocoagulation for juxtapapillary retinal hemangioma in a young girl: A case report.

von Hippel Lindau (VHL) disease is caused by inactivation of the VHL tumor suppressor gene, resulting in formation of multiple systemic tumors. Juxtapapillary retinal capillary hemangioma (JRCH) is one of the major manifestations in VHL disease; however, treatments are challenging, especially in children. The present study reports the case of a 6-year-old girl with suspected VHL disease presenting with JRCH. Fluorescein angiography demonstrated marked dye leakage from the tumor. Retinal hemorrhage occurred around the tumor 7 months later. Laser photocoagulation of the tumor tissue was safely and successfully conducted without general anesthesia. The hemorrhage diminished after laser photocoagulation. Optical coherence tomography demonstrated mild resolution of an elevated lesion in JRCH with contraction of the vitreoretinal interface over the tumor. Laser photocoagulation may be considered the first-line treatment for young patients with JRCH, although the primary physicians must have the necessary skills and be able to establish good doctor-patient relationships, even with children.

Pediatric Central Retinal Vein Occlusion and Macular Edema Secondary to Isolated Retinal Racemose Hemangioma

Isolated retinal racemose hemangioma is a rare disorder that may lead to vision loss due to late complications, most commonly central retinal vein occlusion (CRVO). We describe the longitudinal clinical course using multimodal imaging of a 13-year-old girl diagnosed with CRVO and macular edema in the setting of isolated retinal racemose hemangioma treated with intravitreal antivascular endothelial growth factor.

Von Hipple-Lindau: Unusual case presentation with peripheral and juxtapapillary retinal hemangioma.

Von Hipple-Lindua (VHL) syndrome is an autosomal dominant neoplastic disorder in which multiple benign or malignant tumours and cysts develop in central nervous system and visceral organs. Retinal capillary hemangioma is the most frequent and often the earliest manifestation of VHL syndrome. We report a case with multisystemic involvement diagnosed as a case of multiple endocrine neoplasia (MEN) syndrome but the presence of multiple, unilateral peripheral and juxtapapillary retinal capillary hemangioma was able to clinche the definative diagnosis of VHL and thus helped in appropriate management of the patient.

Роль брахитерапии в лечении капиллярных гемангиом сетчатки

Purpose: to evaluate the efficiency of brachytherapy treatment in capillary retinal hemangioma and the emerging complications. Material and methods. Between 2005 and 2014, 18 patients with capillary hemangioma of the retina (11 females and 7 males, mean age 29 ± 13.9 years) were treated, 8 patients had monocular and 10 patients had binocular lesion. In 12 cases, capillary hemangioma of the retina was associated with Hippel - Lindau disease, in 6 cases a sporadic tumor appeared. 90Sr and 106Ru ophthalmic applicators were used. In 7 eyes, brachytherapy was preceded by laser coagulation. After local irradiation, the patients were followed up for 1 month to 3 years. Results. The pathological process was stabilized in 13 eyes. 5 eyes, no later than 3 months after the procedure, developed a severe radiation reaction, total retinal detachment, and recurrent hemophthalmos, which later, after 6 months or more, led to the development of neovascular glaucoma. In one case, the eye had to be enucleated due to terminal painful glaucoma. In 3 eyes despite tumor regression, retinal detachment persisted over the follow-up period, although the macular area remained unaffected. Complicated cataract (12 eyes), neuroretinopathy (2 eyes), appearance of new capillary hemangiomas (1 eye), increased epiretinal fibrosis (4 eyes), and secondary central chorioretinal dystrophy (2 eyes) were observed over the period of up to 2 years. Conclusion. In most cases, brachytherapy of retinal capillary brings about a satisfactory anatomical result. However, in order to reduce postoperative complications and improve the functional result, a thorough preoperative selection of patients is needed, which should take into account the initial retinal status. For citation: Neroev V.V., Saakyan S.V., Ilyukhin P.A., Valskiy V.V., Ryabina M.V., Novikova A.Yu. The role of brachytherapy in the treatment of retinal capillary hemangiomas. Russian ophthalmological journal. 2018; 11 (3): 5-10 (In Russian). doi: 10.21516/2072-0076-2018-11-3-5-10

Two-staged en bloc excision of a retinal haemangioma

A 31-year-old man presented to us with diminution of vision in the right eye which he noticed since 10 days, with a visual acuity of hand motions only. On examination,...

Bilateral retinitis pigmentosa with unilateral choroidal nevus: A hitherto unreported association

Retinitis Pigmentosa (RP) has been reported to be associated with retinal hemangioma, retinal angiomatous proliferation, polypoidal choroidal vasculopathy and vasoproliferative tumours. However there is no previous report of choroidal nevus in an eye with RP. We describe such a case in which the eye with RP had a choroidal nevus at the macula. The coexistence of these two entities in the same eye emphasizes the need of careful examination of patients with RP. The presence of choroidal nevus warrants additional investigations such as B scan ultrasonography and a close follow-up to pick up changes in the nevus size and morphology.

Retinal Cavernous Hemangioma

An asymptomatic 14-year-old boy was incidentally found to have a “bunch-of-grapes”−like retinal lesion, consistent with a retinal cavernous hemangioma. Although typically sporadic and unilateral, these lesions can be familial and associated with cutaneous, hepatic, or intracranial hemangiomas. Vitreous hemorrhage may result from epiretinal membrane contraction and vitreous traction. Fundus photograph showing the retinal cavernous haemangioma (Fig A). Near-infrared spectroscopy (Fig B) and spectral-domain optical coherence tomography (Fig C) demonstrating the epiretinal membrane and vitreous traction.

An Unusual Cause of Extremity Weakness: Von Hippel-Lindau Disease and Advantages of Radiologic Imaging on Diagnosis

Von Hippel-Lindau disease is a rare autosomal dominant disease with the disorder matched with the short arm of chromosome 3. The prevalence of Von Hippel-Lindau disease has been estimated to be between 1:35000-1:40000. Retinal hemangioma and central nervous system (CNS) hemangioma are the main manifestations with later accompanying adrenal pheochromacytoma, paraganglioma, renal cell carcinoma, islet cell tumors, pancreatic cysts and neuroendocrine tumors, epididymal cysts, or cystadenoma and endolmphatic sac tumor of the inner ear. The disease is a multisystem disorder with phenotypic variability. A 50-year-old man presented with a 2-month history of weakness of the right upper and lower limbs. Magnetic resonance imaging revealed cerebellar and spinal hemangioblastomas. In this case report, we present the radiologic images and clinical features of apatient with von Hippel-Lindau disease along with symptomatic central nervous system hemangioblastomas and multiple renal and pancreatic cysts. Key Words: Hemangioblastoma; Pancreatic Cyst; Renal Cyst; Von Hippel-Lindau Disease.

VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma.

The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed. DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe. Three novel mutations (H125P, 623(?TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding β-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(?TTTGTtG) carriers presented VHL type 2B or type 2C. VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(?TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research into VHLD pathogenesis.

Long-Term Results After Proton Beam Therapy for Retinal Papillary Capillary Hemangioma

To evaluate the potential benefit and risk of proton beam therapy in the treatment of symptomatic retinal papillary capillary hemangioma. Retrospective interventional case series. This study included patients presenting with symptomatic exudative retinal papillary capillary hemangioma with or without association with von Hippel-Lindau disease. All patients were treated either as a first or a secondary treatment option by proton beam therapy between 2001 and 2009. The minimum follow-up was 30 months. Eight eyes of 8 patients (3 male and 5 female, with a mean age of 36 years [range 22-80 years]) were treated for symptomatic papillary retinal hemangioma. The median interval between onset of macular edema and proton beam therapy was 1.7 months (range 0.5-3.3 months). The median follow-up period was 84 months (range 32-106 months) between proton beam treatment and last follow-up. Exudation completely resolved in all but 1 patient after 4.2 months on average (range 2.8-7.2 months). Mean visual acuity prior to proton beam irradiation was 0.7 logMAR (0.2 DIN (DIN 58220 norm)) (range 2-0.3 logMAR) and declined to 0.8 logMAR (0.16 DIN; range 2-0.1 logMAR) at last follow-up examination (no statistical significance, P=.071). The anatomic outcome after proton beam therapy for retinal papillary hemangioma is convincing, whereas functional outcome may be compromised because of tumor location, long-persisting macular edema, extensive exudation, and poor initial visual acuity. In patients with extended retinal detachment surgical intervention was still necessary. Although proton beam therapy is proven to be a therapeutic option, treatment will remain challenging.

Massive exudative retinal detachment following photodynamic therapy for retinal hemangioma in von Hippel–Lindau Syndrome

Photodynamic therapy (PDT) is a common treatment on retinal capillary hemangioma. We applied PDT to a patient with von Hippel-Lindau(VHL) syndrome and she developed severe massive exudative retinal detachment the next day, which is a rare complication for PDT. After intraocular anti-VEGF agent and peribulbar dexamethasone several times to the patient, her subretinal fluid disappeared and hemangiomas atrophied. Treatment with Anti-VEGF agent and corticosteroid is effective for such complication.

New Insights into von Hippel-Lindau Function Highlighted by Investigation of the Trichloroethylene-Induced p.P81S Hotspot Mutation

The von Hippel-Lindau gene (VHL), composed of three exons, encodes a protein, pVHL, with diverse tumor suppressor activities. Germline VHL mutations are found in patients with von HippelLindau (VHL), an autosomal dominant hereditary cancer syndrome in which affected individuals are at risk for the development of highly vascularized benign and malignant tumors including central nervous system hemangioblastomas, retinal hemangiomas, clear cell renal carcinomas (ccRCCs), pheochromocytomas, and pancreatic neuroendocrine tumors (1). Biallelic inactivation of VHL, whether via mutation or promoter methylation, is found in VHL-associated tumors and in nearly 90% of sporadic ccRCC tumors (2,3), the most common form of sporadic kidney cancer. Among its activities, pVHL functions as the substrate recognition module of a multiprotein ubiquitin ligase complex, and, by recruiting hypoxia-inducible factor (HIF) 1α and 2α to this complex, mediates their oxygen-dependent degradation (4). VHL mutations that interfere with HIF-α recognition promote aerobic glycolysis and support neoangiogenesis, perhaps the most intensively studied consequences of pVHL loss. However, regulation of HIF-α expression is unlikely to be the sole mechanism underlying the tumor suppressor function of pVHL. Given its role as the substrate recognition module of a multiprotein complex, it is reasonable to assume that pVHL has additional activities that depend on protein–protein interactions unrelated to (or perhaps complementary with) HIF stabilization, and that deregulation of one or more of these activities contributes to tumor formation, likely in a tissue-specific manner. Indeed, pVHL has been implicated in a number of cellular processes that appear to be HIF independent, including cell cycle regulation, extracellular matrix assembly, and cytoskeleton stability (5). The development of ccRCC is associated with both genetic (eg, VHL germline mutation) and environmental factors, particularly long-term exposure to the industrial solvent trichloroethylene (TCE). Although TCE exposure does not affect the histopathology of sporadic ccRCC, its onset is earlier in TCE-exposed individuals, and the VHL gene in a substantial percentage of these tumors contains a specific mutation of a cytosine to thymidine at nucleo

Hereditary renal cell carcinoma associated with von Hippel–Lindau disease: a description of a Nova Scotia cohort

von Hippel-Lindau (VHL) disease is an autosomal dominant condition characterized by the development of benign and malignant tumours, including cases of renal cell carcinoma (RCC). Early detection of RCC through routine surveillance can lead to decreased morbidity and mortality. Data on the number of patients in Nova Scotia (NS) who have VHL disease, disease manifestations and the frequency and mode of the surveillance have not previously been collected or reported. This project was designed to obtain that information. The number and management of patients with VHL disease was determined by multiple sources: the Maritime Medical Genetics Service, patient charts, and pathology, radiology and laboratory data. The actual surveillance being performed was compared with that recommended in the literature. Twenty-one patients from 11 families in NS were identified. Manifestations included cases of RCC (31.6%), central nervous system (CNS) hemangioblastoma (73.7%), retinal hemangioma (47.4%), renal cyst (47.4%) and pheochromocytoma (10.5%). Of the 6 patients with RCC, 4 had bilateral tumours, 2 required kidney transplants and 1 developed metastatic disease. Routine surveillance was being done for the CNS in 62.5% of patients, retina in 47.4%, abdomen in 43.8% and urine catecholamines in only 10.5%. Only 1 of the 6 patients who developed RCC was undergoing routine abdominal imaging. Surveillance investigations were ordered by a number of different specialists. Patients with VHL disease in NS have a number of manifestations associated with their disease, including RCC, in a similar frequency to that reported in the literature. The surveillance of these patients is suboptimal in frequency and coordination. von Hippel-Lindau disease is a complex condition that requires a coordinated approach to care to ensure proper surveillance and treatment. Our study highlights current deficiencies and offers an enormous opportunity for improvement.

Isolated juxtapapillary haemangioma

AbstractPurpose To report a case of a juxtapapillary retinal capillary haemangiomaMethods A 21‐year‐old lady was referred from her optician with a six month history of blurred vision in her right eye. She was otherwise fit and well and did not take any regular medication. She had experienced occasional migraines in the last few years. She had no significant family history of note. On presentation, her visual acuity was 6/6 in both eyes. She had evidence of right optic disc swelling with some telangiectatic changes in a peripapillary distribution. In addition there were significant hard exudates temporal to the macula. A fundus fluorescein angiogram and OCT were undertaken which were consistent with a juxtapapillary capillary haemangioma. Although she had no systemic symptoms suggestive of Von Hippel‐Lindau (VHL) syndrome, we referred her to a clinical geneticist to initiate investigations to evaluate this, as retinal haemangiomas are a frequent presenting feature of VHL; although they can be an isolated disorder. She underwent an abdominal and pelvic USS which was reported as normal, MRI of the head was reported as revealing no features suggestive of VHL disease, FBC, U&Es were also normal, 24 hr urine collection was normal for adrenaline, nor‐adrenaline and dopamine.Results Sixteen months after her first visit, her vision dropped to 6/12. OCT imaging demonstrated increasing macular oedema and exudation over the fovea. It was decided that the best option for treatment was intravitreal avastin, in combination with photodynamic therapy.Conclusion Combined anti‐VEGF therapy and PDT are a treatment option for juxtapapillary capillary haemangioma; although prognosis is often poor.

Another Proliferative Diabetic Retinopathy? A Case Report of Retinal Cavernous Haemangioma Treated with Intravitreal Bevacizumab, Initially Labelled as Persistent Proliferative Diabetic Retinopathy

We present a case of Retinal Cavernous Haemangioma treated with Intravitreal Bevacizumab, which was initially labelled as persistent proliferative diabetic retinopathy with multiple episodes of vitreous haemorrhage. These lesions can be confused with new retinal vessels in diabetics and if correctly diagnosed unnecessary photocoagulation can be avoided. Our patient received a course of three intravitreal Bevacizumab injections (1.25 mg/0.05 ml) in order to stop the leakage from the retinal cavernous haemangioma lesions and prevent another episode of vitreous haemorrhage. No intraoperative or postoperative complications were seen. Twenty-two months following treatment there was no recurrence of vitreous haemorrhage.

Verteporfin photodynamic therapy of retinal optic disc haemangioma

AbstractPurpose Retinal optic disc haemangioma are difficult to manage. Observation as well as therapeutical interventions may result in irreversible visual loss. We investigated verteporfin photodynamic therapy (PDT) as the initial treatment method for these tumours.Methods Retrospective review of patients with optic disc haemangioma not associated with v. Hippel‐Lindau disease and a minimum follow‐up of 1 year.Results Between January 2009 and June 2010, we treated three patients with PDT and standard parameters as the initial intervention. All patients presented with symptomatic visual loss caused by macular oedema. In a 67‐year‐old female patient, complete regression could be achieved with a single PDT after 14m follow‐up. Best corrected visual acuity (BCVA) improved from 6/60 to 6/18. In a 55‐year‐old male patient, no regression of the angioma could be induced despite 5 consecutive PDT sessions. After a 24m follow‐up, BCVA decreased from 6/9 to counting fingers. In a 24‐year‐old female patient, a single PDT induced complete regression and BCVA improved from 6/12 to 6/9 over 12m. The treatment was initially complicated by a shutdown of the choroidal perfusion with temporary visual loss immediately following the PDT.Conclusion In this small series, treatment response of optic disc haemangioma to PDT varied significantly between cases. A complete regression of two angiomas as well as no visible reaction to PDT in a third case could be observed. Alternative treatment modalities should be employed if the haemangioma does not respond to the initial treatment cycles and is complicated by progression of the disease.

Intravitreal bevacizumab (avastin) combined with vitrectomy for recurrences of proliferative vitreoretinopathy in von Hippel–Lindau disease

Intravitreal bevacizumab (avastin) combined with vitrectomy for recurrences of proliferative vitreoretinopathy in von Hippel–Lindau disease

Temporary exudative retinal detachment following photodynamic therapy in a patient with retinal capillary hemangioblastoma

A 21-year-old male with von Hippel-Lindau syndrome was treated for a retinal hemangioblastoma with photodynamic therapy (PDT). We employed the standard PDT protocol with doubled treatment duration. Seven days after the procedure, there were some perilesional intra- and subretinal hemorrhages and significant exudative retinal detachment extending inferiorly. Four weeks later, the hemorrhages had mostly cleared, and diminished subretinal fluid and partial regression of the hemangioblastoma were noted. PDT might induce temporary subretinal fluid accumulation in eyes with retinal hemangiomas.

A Case Report of Bilateral Retinal Racemose Hemangioma Restricted to Peripapillary Area

A Case Report of Bilateral Retinal Racemose Hemangioma Restricted to Peripapillary Area