Retinal Hemangioma Research Articles

New Prospects on Neuroimaging in Von Hippel Lindau Disease—A Narrative Review

(1) Background: Hemangiomas in Von Hippel-Lindau (VHL) syndrome patients are typically benign but pose threats due to their vital locations involving the central nervous system and the retina. An MRI is currently recommended as the gold standard for tumors associated with VHL in the head region. This narrative review aims to comprehensively outline current standards and recent findings related to imaging of retinal and CNS hemangiomas in Von Hippel-Lindau syndrome. (2) Material and Methods: A review in adherence to PRISMA guidelines using the search string “Von Hippel-Lindau hemangioblastoma imaging” was conducted on PUBMED and SCOPUS databases. (3) Results: After reviewing 455 titles and abstracts, 20 publications fulfilling the inclusion criteria were analyzed. The analysis included studies describing MRI, CT, optical coherence tomography, and PET/CT. (4) Conclusion: While MRI remains the gold standard for diagnosing head tumors in Von Hippel-Lindau syndrome, various PET/CT methods show promise as alternative imaging modalities.

Retinal hypoperfusion detected by wide-field optical coherence tomographic angiography in a case of retinal racemose hemangioma.

Retinal racemose hemangioma (RRH) is a rare, non-hereditary arteriovenous malformation characterized by the appearance of dilated and tortuous retinal vessels. RRH can develop complications associated with retinal ischemia, such as vitreous hemorrhage, retinal vein occlusion and neovascular glaucoma. Here, we report a case of RRH with retinal hypoperfusion detected by wide-field swept source optical coherence tomography angiography (OCTA), which was not unambiguously illustrated by fluorescein angiography (FA). Case report. A 57-year-old woman was referred to our hospital for the evaluation of severe retinal vascular tortuosity, dilation and retinal hemorrhages in the left eye. Fundus examination revealed arteriovenous communications temporal to the fovea and multiple microaneurysms surrounded by retinal hemorrhages at the midperipheral temporal fundus. In FA, multiple hyperfluorescent lesions with leakage corresponding to microaneurysms were observed in the temporal and lower midperipheral areas; however, non-perfused areas were apparently absent. By contrast, wide-field OCTA clearly showed low-density retinal capillaries in the superotemporal quadrant in comparison with those in the inferotemporal quadrant. Wide-field OCTA detected sparse retinal capillaries, which were not well illustrated by FA, in a patient with RRH. This indicates the presence of low-grade retinal hypoperfusion caused by altered retinal hemodynamics, potentially leading to ischemia-related retinal disorders during a prolonged course, in patients with clinically quiescent RRH.

Tumors of the Retina, Optic Disc and Retinal Pigment Epithelium

Vascular tumors of the retina include retinal capillary hemangioma (retinal hemangioblastoma), retinal cavernous hemangioma, retinal racemose hemangioma, and vasoproliferative tumor of the retina. Although they are benign and rare tumors, vascular tumors of the retina are important due to the potential for vision loss through ocular complications, as well as the possibility of morbidity and mortality from accompanying systemic diseases. Ophthalmologists have an important role in diagnosing and implementing necessary screening and treatments. This article will describe the vascular tumors of the retina and optic nerve head.

Current Treatment Approaches for Vascular Tumors of the Retina and Optic Disc

The vascular tumors of the retina and optic disc include retinal hemangioblastoma (capillary hemangioma), retinal cavernous hemangioma, retinal racemose hemangioma (Wyburn-Mason Syndrome) and retinal vasoproliferative tumor. Although retinal vascular tumors are not common, in some cases they can lead to diagnostic and therapeutic challenges. Sector laser photocoagulation, cryotherapy, transpupillary thermotherapy, photodynamic therapy, intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy, plaque radiotherapy, and endoresection procedures are commonly in the treatment of retinal hemangioblastoma. Cryotherapy, transpupillary thermotherapy, photodynamic therapy, intravitreal anti-VEGF therapy and dexamethasone implants, plaque radiotherapy, and endoresection methods can be applied in retinal vasoproliferative tumor. No treatment in usually necessary in retinal cavernous and racemous hemangiomas.

Retinal racemose hemangioma (retinal arteriovenous communication) diagnosed and managed with multimodal imaging.

Retinal racemose hemangioma (RRH) is a rare congenital abnormality of the retinal vasculature with a variety of secondary manifestations that can cause vision loss, including macular edema. This report aims to demonstrate the utility of swept-source optical coherence tomography angiography (SS-OCTA) in further characterizing this abnormality. Case report with multimodal imaging including SS-OCTA. A 56-year-old woman with blurred vision was diagnosed macular edema secondary to RRH. Localization of the arterial-venous connection was identified with SS-OCTA at the deep capillary plexus (DCP). Conservative management of the associated foveal exudation ultimately led to a favorable outcome. Observation or topical therapy may be useful and warranted in select cases of RRH. The anomalous vascular connection in RRH appears to originate at the level of the DCP in this case, however larger studies are necessary for corroboration. Evolving angiographic modalities like SS-OCTA may continue to provide insights for this rare disease.

Retinal and Cerebral Cavernous Haemangioma in a Female Patient - Multimodal Imaging.

Retinal cavernous hemangioma is a rare congenital disorder, a unilateral hamartoma of the retina. Patients are often asymptomatic or may present with decreased vision from vitreous hemorrhage or macular involvement. There is usually a good prognosis for visual acuity. Most patients have no positive family history but in 20% of patients, particularly with bilateral or intracranial involvement, autosomal dominant inheritance is detected. We report a young female with unilateral cavernous hemangioma of the peripheral retina with mild vitreous hemorrhage, associated with cerebral cavernomas and hemorrhagic stroke.

Education: Retinal racemose hemangioma arteriovenous malformation investigations, clinical course and management.

The authors report no financial or nonfinancial conflicts of interest that are directly or indirectly related to this manuscript.

Retinal racemose hemangioma and macroaneurysm with multilayered hemorrhage

A 42-year-old female presented with sudden diminution of vision in the right eye (RE) for 1 day. The vision was counting fingers with Relative afferent pupillary defect (RAPD) (RE) and 20/20 (LE). Fundus revealed dilated tortuous arteries and veins in all quadrants with premacular and submacular hemorrhage. Fundus fluorescein angiography (FFA) showed nonleaking vascular loops with hypofluorescence at the macula. Optical coherence tomography (OCT) revealed localized posterior hyaloid detachment with hemorrhage. We report this unilateral case of retinal racemose hemangioma with multilayered hemorrhage managed with pneumatic displacement and revealed retinal artery macroaneurysm in the background. On follow-up there was development of localized vitreomacular traction. It was treated with Yttrium Aluminium Garnet (YAG) hyaloidotomy, which improved vision to 20/80.

Multimodal imaging features in retinal racemose hemangioma

Multimodal imaging features in retinal racemose hemangioma

Retinal racemose hemangioma characterization with multimodal imaging

Retinal racemose hemangioma characterization with multimodal imaging

Retinal cavernous haemangioma in an infant with aggressive posterior retinopathy of prematurity

A 2-month-old premature infant (37 weeks post-menstrual age) was referred for persistent pre-retinal bleed following laser treatment for retinopathy of prematurity. Detailed examination revealed a reddish purple, raised, lobulated lesion at the junction of the vascularised retina and laser scars. Typical clinical findings along with fluorescein angiography helped establish the diagnosis of retinal cavernous haemangioma. This report describes the youngest reported case of retinal cavernous haemangioma in a premature child.

Small choroidal melanoma and pseudomelanomas: methods of differential diagnostics (literature review). Part 3

The third part of literature review (see first part in ROJ 2019; 12 (4): 99–108, second part in ROJ 2020; 13 (2): 88–98) discusses the features characteristic of small uveal melanoma and pseudomelanomas (choroidal nevus, circumscribed choroidal hemangioma, melanocytoma, choroidal metastatic carcinoma, congenital hypertrophy of retinal pigment epithelium, late-stage age-related macular degeneration, focal retinochoroiditis, organized subretinal hemorrhage, retinal hemangioma) which were revealed by optical coherence tomography and optical coherence tomography-angiography. The need for further comparative studies aimed at defining differential diagnostic is emphasized.

Proven and less studied hematopoietic and vasoactive growth factors in retinal capillary hemangioma

Pathogenesis of retinal capillary hemangioma has not been sufficiently studied at the present time. Therefore, the study of cytokine levels in biological fluids seems to be very relevant in order to increase knowledge about the mechanisms of the disease development and searching for targeted therapies. The content of hematopoietic and vasoactive growth factors in blood serum, lacrimal fluid, and vitreous body was studied in patients with retinal capillary hemangioma. A total of 26 patients with retinal angiomatosis were examined. The samples of blood serum (n = 23) and lacrimal fluid (n = 10) from practically healthy people aged 22 to 46 (27.4±1.4 years) were used as a control. To perform comparative assessment of cytokine concentrations in the vitreous body of patients with retinal capillary hemangioma, were used samples of the vitreous body from 6 patients (average age 33±4.7 years; from 21 to 49 years) with rhegmatogenous retinal detachment. To measure the cytokine concentrations, we applied multiplex analysis technique using the xMAP platform with LuminexxPONENT 3.1 program and ProcartaPlex sets (eBioscience, Austria). A detailed characteristic of vasoactive factors in capillary retinal hemangioma was obtained as a result of this work. Some disorders in chemokine regulation were identified. There was a significant increase in serum concentrations of three vasoactive factors, i.e., PDGF-BB, HGF, and PIGF-1, with a decrease in chemokines (MCP-1, MIP-1α, and MIP-1β). The frequencies of PIGF-1 and MIP-1α detection also significantly differed from the control group. SCF was significantly more often determined in patients with retinal angiomatosis only at the systemic level. Correlations between PDGF-BB and PIGF-1, as well as PIGF-1 and MIP-1β were shown. A significant increase in VEGF-A, HGF, VEGF-D, as well as MCP-1 concentrations was shown in the lacrimal fluid. The inversion of PDGF-BB concentrations in serum and lacrimal fluid was noted. Analysis of intraocular cytokine levels revealed a significant increase in VEGF-A and HGF concentrations, with marked decrease in MIP-1α and MIP-1β. PDGF-BB in 100% of cases was determined only in vitreous body of patients with retinal angiomatosis. With respect to the revealed characteristic shifts of HGF/SF intraocular production in retinal capillary hemangioma, it seems relevant to search ways for its inhibition, thus providing potential basis for a new therapeutic strategy in treatment of retinal angiomatosis.

Isolated Retinal Racemose Hemangioma with a “Bag of Worms” Appearance

Isolated Retinal Racemose Hemangioma with a “Bag of Worms” Appearance

Paediatric Ophthalmology: Raised superior bilateral conjunctival lesions in 7-year-old child

Periocular steroids for macular edema associated with retinal arterio-venous malformation Romana Fazal Aravind Eye Hospital and Post graduate Institute of Ophthalmology, India Abstract Retinal racemose hemangiomas are vascular malformations comprising of direct arteriovenous communications in the retina which may sometimes present with defective vision. Exudation and neurosensory detachment are some of the complications which may be responsible for decreased visual acuity. We describe a case of a 38-year-old male presenting with unilateral group II retinal racemose hemangioma complicated with macular edema. Intravitreal bevacizumab was injected after which an increase in edema was noted at one month follow up. He was subsequently treated with posterior sub tenon injection of triamcinolone following which there was a prompt decrease in the intra retinal and subretinal fluid with simultaneous improvement in vision. The visual acuity was maintained and no recurrence was seen till six months after successful treatment. Biography: Romana Fazal has completed her MBBS from West Bengal university at the age of 24 years and DNB from Aravind Eye Hospital, Pondicherry. She is currently pursuing her fellowship in Vitreo retinal diseases at Aravind Eye Hospital, Pondicherry. She has 3 publications in reputed national and international journals and number of presentations in national level conferences. 29th International Conference on Insights in Ophthalmology; Webinars- June 17-18, 2020 Abstract Citation: Romana Fazal, Periocular steroids for macular edema associated with retinal arterio-venous malformation, 29th International Conference on Insights in Ophthalmology; Webinars- June 17-18, 2020 (https://ophthalmology.insightconferences.com/abstract/2020/periocular-steroids-for-macular-edema-associated-with-retinal-arterio-venous-malformation )

Von Hippel–Lindau disease with concomitant Hodgkin’s disease and congenital hypertrophy of the retinal pigment epithelium

The article presents a rare case of combination of von HippelLindau disease and Hodgkins disease. The disease began with neurological symptoms with gradual progression over the next 3 years. The diagnosis of von HippelLindau disease was made after MRI of brain and spinal cord, abdominal MICTs, and detection of brain stem and spinal cord tumors, multiple pancreatic cysts. We performed resection trepanation of the posterior cranial fossa and microsurgical total removal of hemangioblastoma of the medulla oblongata. After 1.5 years the patient is diagnosed with Hodgkins disease and several courses of chemotherapy are carried out, reaching full remission, confirmed by PET with CT. 14 months later, the patient consulted an ophthalmologist due to visual impairment and floating opacities in her left eye. The ophthalmologic examination for the first time revealed multiple bilateral retinal hemangiomas and vitreal hemorrhages from tractional retinal tears caused by posterior hyaloid detachment and unrelated to hemangiomas in the left eye. The barrier laser coagulation of the left eye retinal tears was performed, and the observation tactics was adopted.

Small choroidal melanoma and pseudomelanomas: methods of differential diagnostics (literature review). Part 2

The first part of the literature review described the ophthalmoscopic picture of the small choroidal melanoma and pseudomelanomas [ROJ, 2019; 12 (4): 99–108]. This is the second part of the review, which describes the features characteristic of small uveal melanoma and pseudomelanomas, revealed by fluorescence angiography and autofluorescence. Typical properties of fluorescence and autofluorescence are presented for every disease of the eye fundus studied: small choroidal melanoma, choroidal nevus, circumscribed choroidal hemangioma, melanocytoma, choroidal metastatic carcinoma, congenital hypertrophy of the retinal pigment epithelium, late-stage age-related macular degeneration, focal retinochoroiditis of the posterior pole, organized subretinal hemorrhage, retinal hemangioma. The attention was focused on the similarity of angiographic and autofluorescence symptoms of the diseases under study. The need for new differential diagnostic criteria was emphasized.

SUN-458 A rare case of familial blindness and renal failure - Von Hippel Lindau syndrome

Von Hippel Lindau (VHL) is an autosomal dominant familial cancer predisposition syndrome with multitude of benign and malignant multivisceral tumors. We intend to present one such case with familial blindness and renal failure who never got evaluated for her blindness. 42 yr old lady presented with intermittent abdominal pain located in lumbar region, on probing for any other history in past or present she gave history of childhood episode of painless blindness in her left eye, which clinically appeared to be normal. Her family history revealed bilateral blindness in her father and brothers and death due to chronic kidney disease at young age in her younger sister. Her MRI reports revealed Bilateral simple cysts in kidneys along with few cysts in pancreas also showed complex cysts at lower pole of both kidneys Bosniak 3/4. Her occular examination revealed left phthisis bulbi possibly due to retinal heminangiomas. Her family members were examined which revealed retinal hemangiomas and bilateral cystic kidney disease consistent with the familial syndrome. To prove the association of all clinical findings complete gene Exome mapping for the patient was done which confirmed Heterozygous mutation in Gene VHL + on Exon 2 confirming the diagnosis of Von Hippel –Lindau syndrome Complete gene Exome mapping for the patient was done which confirmed Heterozygous mutation in Gene VHL + on Exon 2 confirming the diagnosis of Von Hippel –Lindau syndrome A familial disease has led to familial blindness and renal failure probably due to renal cell carcinoma in the family, lack of conclusive diagnosis and genetic counseling has led to unfortunate early death of family members.

Multimodal imaging in a case of a congenital retinal macrovessel associated with a retinal cavernous hemangioma: a case report

BackgroundTo report the results of multimodal imaging in a case of a congenital retinal macrovessel associated with a retinal cavernous hemangioma.Case presentationA 52-year-old female patient presented with progressive vision loss in the right eye. BCVA was 8/20 in the right eye and 18/20 in the left eye. Fundus examination of the right eye showed an aberrant retinal macrovessel arising from the inferior temporal major vein. It crossed the foveal area and overstepped to the superior retina. A “brunch of grapes” shaped retinal lesions arised from the macrovessel. Fluorescein angiography showed saccular lesions that filled slowly during the venous phase and became brightly hyperfluorescent saccular caps. SS-OCT of the right eye revealed a highly back-scattering hyper-reflective vessel across the fovea with shadow effect and adhesions between the vitreous and the aberrant macrovessel. It also revealed hypo reflective saccules with hyperreflective borders located in the inner retina corresponding to the cavernous retinal hemangioma. Retinal pigment epithelium undulations and vascular dilations at the level of Haller’s layer were observed in both eyes. Indocyanine green angiography revealed chroidal vascular dilatations in both eyes in the late phase. OCT-A showed the aberrant vessel emerging from the inferior temporal vein and splitting the foveal avascular zone horizontally. RCH appeared as small heterogeneous saccular flow areas associated with focal capillary hypo perfusion areas. Asymmetry and distorsion of the foveal avascular zone were also noticed.A diagnosis of retinal macrovessel associated with a retinal cavernous hemangioma was made.ConclusionsCongenital retinal macrovessels and retinal cavernous hemangioma are benign lesions. Their association is rare. Abnormal vascular development is likely to be responsible for their association. Swept source OCT and OCT angiography may be of a great contribution to better evaluate these retinal vascular disorders.

Wyburn Mason Syndrome: Novel presentation with Bilateral Retinal Arteriovenous malformation

A five-year-old girl with poor vision on examination and left eye esotropia was found to have bilateral intraorbital and unilateral intracranial arteriovenous malformation (AVM) and unilateral optic neuropathy. Magnetic Resonance Imaging with contrast revealed a small AVM involving the left ophthalmic artery and a large AVM involving the junction of anterior cerebral artery and anterior communicating artery. The simultaneous presence of retinal and intracranial AVM constitutes the Wyburn- Mason Syndrome (Retinoencephaloangiomatosis). Wyburn mason syndrome is associated with unilateral retinal racemose hemangioma with few cases with bilateral symmetrical involvement been reported in the literature. The present case has asymmetric bilateral retinal AVM and optic neuropathy, rare presentation of rare disease.