Isolated diffuse choroidal hemangioma without systemic symptoms: a case report.

BACKGROUND: Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms. CASE PRESENTATION: We report a 30-year-old man with isolated diffuse choroidal hemangioma in his right eye without systemic symptoms, such as vascular malformations in the skin or leptomeningeal angiomatosis. The only additional ophthalmic finding was ipsilateral abnormal conjunctival and episcleral vessels without glaucoma. However, there was no evidence of leptomeningeal angiomatosis or port-wine stain on the right side of the face, or glaucoma, which are common clinical manifestations of the Sturge-Weber syndrome (SWS).The absence of these characteristic symptoms did not preclude the diagnosis, and the patient could be diagnosed with a particular subtype of SWS. CONCLUSIONS: This is a rare case of documented isolated difuse choroidal hemangioma with ipsilateral abnormal conjunctival and episcleral vessels without glaucoma which we think it is belonging to a particular subtype of SWS.In addition to the traditional clinical manifestations, more and more atypical clinical manifestations are also accompanied by SWS, which requires our clinicians to continuously discover and report, so as to help more clinicians understand this disease.

Photodynamic therapy with double duration for circumscribed choroidal haemangioma: functional and anatomical results based on initial parameters.

IMPORTANCE: Pre-treatment symptoms longer than 12 months and foveal cystoid changes are indicators for poor anatomical and functional outcome after photodynamic therapy (PDT). BACKGROUND: To evaluate the prognostic factors on the effectiveness of PDT with double duration for treatment of exudative circumscribed choroidal haemangioma. DESIGN: Retrospective study. PARTICIPANTS: Twenty-seven patients with symptomatic exudative circumscribed choroidal haemangioma treated with PDT. METHODS: Clinical charts of patients with exudative circumscribed choroidal haemangioma treated with PDT were analysed with regard to visual acuity, duration of symptoms, subfoveal fluid, foveal cystoid changes and foveal thickness in optical coherence tomography. MAIN OUTCOME MEASURES: Change of best-corrected visual acuity, sub- and intrafoveal fluid and foveal thickness measured with optical coherence tomography from baseline to last follow-up. RESULTS: Mean visual acuity improved by 0.05 from 0.42 logMAR (standard deviation [SD] 0.34) to 0.37 logMAR (SD 0.47). In 70% of the patients, PDT stopped exudation and revealed a dry fovea. The recurrence or persistence of sub- or intrafoveal fluid was significantly associated with pre-therapeutic symptoms existing for more than 12 months (P = 0.046). Mean foveal thickness in optical coherence tomography decreased from 324 µm (SD 223 µm) to 209 µm (SD 109 µm). CONCLUSIONS AND RELEVANCE: PDT proved to be a safe and effective treatment procedure for exudative circumscribed choroidal haemangioma in our series, with few side effects. We observed a more successful treatment with regard to anatomical and functional results in cases with pre-existing symptoms less than 12 months and in cases without pre-therapeutic foveal cystoid changes.

A Case of Circumscribed Choroidal Hemangioma Treated With Proton Beam Therapy and Followed Up for 15 Years.

Circumscribed choroidal hemangiomas are rare and benign tumors but often have a progressive course and are complicated by retinal detachment and glaucoma. The effectiveness of external radiation for large tumors that are difficult to treat with photodynamic therapy was recently reported; however, few studies have conducted long-term follow-ups. We encountered a case of localized choroidal hemangioma that was treated with proton beam therapy and followed up for 15 years. A 37-year-old man was diagnosed with a 10 × 4 mm circumscribed choroidal hemangioma involving the macular area with retinal detachment. Proton beam therapy was performed at 26.4 Gy relative biological effectiveness (RBE) in 8 fractions. The choroidal hemangioma gradually shrank over three years, and the retinal detachment also improved. A cataract developed on the affected side 11 years after irradiation, and eye coordination issues developed 15 years after irradiation. Glaucoma was not observed during the follow-up period; however, visual acuity did not recover, and the patient developed light perception. Although vision was not preserved, proton beam therapy effectively shrank the tumor and maintained quality of life.

[Photodynamic therapy in Germany-Quo vadis?] / Photodynamische Therapie in Deutschland ­ Quo vadis?

BACKGROUND: Photodynamic therapy (PDT) was originally approved for the treatment of neovascular age-related macular degeneration (nAMD) and secondary choroidal neovascularization in myopia (mCNV). In addition, it is used as an off-label treatment in patients with choroidal hemangioma, polypoidal choroidal vasculopathy (PCV), and central serous chorioretinopathy (CSC). OBJECTIVE: To track the development of PDT treatment numbers in Germany between 2006 and 2021 and to investigate the composition of the therapeutic indications. METHODS: In this retrospective study the quality reports of German hospitals were evaluated in the period from 2006 to 2019 and the number of PDTs performed was recorded. In addition, the range of indications for PDT was determined exemplarily for the Eye Center at Medical Center, University of Freiburg and the Eye Center at St. Franziskus Hospital in Münster between 2006 and 2021. Finally, the estimated prevalence of CSC and an estimate of cases requiring treatment were used to calculate the number of patients in need of PDT treatment in Germany. RESULTS: The number of PDTs performed in Germany decreased from 1072 in 2006 to 202 in 2019. While PDT was used in 86% of cases in patients with nAMD and in 7% of cases with mCNV in 2006, it was mainly performed in patients with CSC (70%) and choroidal hemangiomas (21%) from 2016 to 2021. With an estimated incidence of CSC of 1:10,000 and assuming that 16% of patients develop chronic CCS requiring treatment, approximately 1330 PDTs would need to be performed per year in Germany for patients with newly diagnosed chronic CSC alone. CONCLUSION: The decreasing numbers of PDT treatment performed in Germany is mainly due to a change to intravitreal injections as the preferred treatment for nAMD and mCNV. As PDT is currently the recommended treatment of choice for chronic CSC, an underprovision of PDT in Germany can be assumed. To enable an appropriate treatment for patients, a reliable verteporfin production, a simplified approval process by health insurance companies and a close cooperation between ophthalmologists in private practice and larger centers are urgently needed.

Clinical impact of the worldwide shortage of verteporfin (Visudyne®) on ophthalmic care.

INTRODUCTION: Since July 2021, a worldwide shortage of verteporfin (Visudyne®) occurred: an essential medicine required for photodynamic therapy (PDT). PDT with verteporfin has a broad range of indications in ophthalmology, including chronic central serous chorioretinopathy, polypoidal choroidal vasculopathy and choroidal haemangioma. For these disorders, PDT is either the first-choice treatment or regarded as a major treatment option. MATERIALS AND METHODS: A questionnaire was sent to key opinion leaders in the field of medical retina throughout the world, to assess the role of PDT in their country and the effects of the shortage of verteporfin. In addition, information on the application of alternative treatments during shortage of verteporfin was obtained, to further assess the impact of the shortage. RESULTS: Our questionnaire indicated that the shortage of verteporfin had a major impact on ophthalmic care worldwide and was regarded to be a serious problem by most of our respondents. However, even though there is ample evidence to support the use of PDT in several chorioretinal diseases, we found notable differences in its use in normal patient care throughout the world. Various alternative management strategies were noted during the verteporfin shortage, including lowering the dose of verteporfin per patient, the use of alternative treatment strategies and the use of a centralized system for allocating the remaining ampoules of verteporfin in some countries. CONCLUSION: The shortage of verteporfin has had a large effect on the care of ophthalmic patients across the world and may have resulted in significant and irreversible vision loss. Mitigation strategies should be developed in consultation with all stakeholders to avoid future medication shortages of verteporfin and other unique ophthalmic medications. These strategies may include mandatory stock keeping, compulsory licensing to an alternative manufacturer or incentivizing the development of competition, for example through novel public-private partnerships.

Circumscribed choroidal haemangioma: clinical and topographical features.

AIMS: To characterise the clinical and topographical features of circumscribed choroidal haemangioma (CCH) and to visualise the patterns of tumour extent in the ocular fundus. METHODS: Data on the size, shape and location of 113 CCH were converted into a database of two-dimensional retinal charts by means of computer drawing software. The extent of the tumours was visualised by merging the charts and displaying the number of overlapping tumours on colour-coded maps. RESULTS: The mean largest tumour diameter was 7.2 mm (range, 2.5-11.0 mm), mean tumour height was 2.4 mm (range, 0.7-4.6 mm) and mean diameter/height ratio was 3.2 (range, 2.1-6.0). The mean distance from the posterior tumour margin to the foveola and optic disc margin was 1.7 mm (range, 0-15 mm) and 2.4 mm (range, 0-11 mm), respectively. The hemispheric location of the tumour centroid was temporal in 75 eyes (66%) and nasal in 38 (34%) (p=0.0005) and the distribution between the superior and inferior hemispheres was 68 (60%) and 45 (40%), respectively (p=0.03). The presence of subretinal fluid (SRF) was significantly associated with young age at diagnosis (p=0.0002), low tumour diameter/height ratio (p=0.0004), nasal hemisphere location (p=0.006) and close proximity to the optic disc (p=0.004). CONCLUSIONS: The superotemporal quadrant close to the macula is the most frequent location of CCH. The tumours are generally characterised by a diameter/height ratio of >2. Tumours in young patients, with marked elevation, in nasal hemisphere and in proximity to the optic disc are associated with SRF exudation.

Photodynamic Therapy for Circumscribed Choroidal Haemangioma in a Scottish Cohort.

PURPOSE: The aim of this study was to evaluate the safety and efficacy of photodynamic therapy (PDT) with verteporfin as a treatment for circumscribed choroidal haemangioma (CCH). PROCEDURES: This is a retrospective cohort study of all treatment-naïve patients undergoing PDT with verteporfin for CCH in a single centre between April 1, 2007, and September 30, 2016. Best corrected visual acuity (BCVA; using ETDRS letter score), optical coherence tomography (OCT) measurements and a subjective measurement of visual function were recorded before treatment, at 3-month follow-up and at each annual follow-up. RESULTS: Seventeen Caucasian patients with CCH received PDT, with a re-treatment rate of 23.5% (n = 4). Mean (±SD) follow-up was 36.5 (±32.6) months (range 2-106). Mean (±SD) pre-PDT BCVA was 58.5 (±15.5) letters, with a mean improvement from baseline of 8.2 letters at 3 months, of 13.8 letters at 1 year, of 21.1 letters at 2 years and of 19.5 letters at 3 years of follow-up. Subjective visual improvement was noted in 67% at 3 months, in 93% at 1 year, in 86% at 2 years and in 100% at 3 years of follow-up. OCT demonstrated no intraretinal/subretinal fluid in 63% at 3 months, in 77% at 1 year, in 86% at 2 years and in 100% at 3 years of follow-up. No complications of PDT were noted during the study. CONCLUSIONS: PDT is a safe and effective treatment for CCH which results in both structural and functional improvements, and these findings are particularly applicable to patients of Caucasian ethnicity. OCT provides a useful and readily available option to monitor CCH disease activity and its response to PDT.

Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma.

We present the case of a 12-year-old boy with Sturge-Weber syndrome and ocular melanocytosis who presented with bilateral naevus flammeus of the face and hyperpigmentation of the right iris associated with ipsilateral iris mammillations. The patient had glaucoma and a diffuse choroidal haemangioma of the right eye. Optical coherence tomography of the anterior segment confirmed iris hyper-pigmentation and did not show abnormalities of the chamber angle structures. B-scan ultrasonography and enhanced depth imaging optical coherence tomography were performed and showed a marked difference in thickness and reflectance between the right and left choroid. Visual field examinations with perimetry showed early defects in the right eye. Peripapillary optical coherence imaging showed borderline values of retinal nerve fibre layer thickness reduction in the right eye. Sturge-Weber syndrome associated with ocular melanocytosis and iris mammillations is an extremely rare condition. This paper highlights the role of multi-imaging methods in the enhanced evaluation of rare diseases towards choosing the most appropriate management strategies and improving the follow-up of patients over time.

Choroidal haemangioma and photodynamic therapy. Anatomical and functional response of patients with choroidal hemangioma treated with photodynamic therapy. / Hemangioma coroideo y terapia fotodinámica. Respuesta anatómica y funcional de los pacientes con hemangioma coroideo tratados con terapia fotodinámica.

OBJECTIVE: To study the effectiveness and limitations of photodynamic therapy (PDT) as treatment of choice in patients with symptomatic circumscribed choroidal haemangioma. METHODS: A retrospective study was conducted on 16 patients (13 men and 3 women, with mean age of 54.88 years) with circumscribed choroidal haemangioma, who attended our centre and were treated with PDT in the last 7 years. RESULTS: All patients had circumscribed choroidal haemangioma, which caused a decrease in visual acuity (VA) secondary to the presence of intraretinal microcystic oedema or neurosensory detachment. The mean initial VA was 0.23, and the final mean VA after performing PDT was 0.38 (all the VA were measured in decimal scale). It should be noted that patients needed a mean of 1.69 PDT sessions. Three of the patients needed rescue treatment with trans-pupillary thermotherapy, intravitreal injection of anti-vascular endothelial growth factor (ranibizumab, aflibercept) or a dexamethasone intravitreal implant (Ozurdex®). The indication for a change of treatment was the persistence of intraretinal microcystic oedema and/or neurosensory detachment (or incomplete resolution) after 3 PDT sessions. As overall results, 62.5% of patients evolved into anatomical and functional (increase in AV or stability) resolution. CONCLUSIONS: PDT is a straight forward and fast procedure, with a good anatomical and functional response, causing minimal damage to adjacent vessels.

Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort.

Visual functions in Sturge-Weber syndrome (SWS) may be impaired by glaucoma, diffuse choroidal haemangioma (DCH) or leptomeningeal angioma. The aim of this study was to gain better insight in the visual deficits of SWS patients. A systematic literature search using PubMed and Embase medical databases was performed to identify articles describing visual acuity (VA) and/or visual field (VF) findings in SWS patients. In addition, a Dutch multicentre cohort with 33 SWS patients was collected and the combined results of VA and VF findings are presented. Visual acuity results of 25 studies and VF results of 12 studies were suitable for data extraction. Description of the combination of both VA and VF findings was scarce. Homonymous hemianopia (HH) was present in 42% of SWS patients. Seventy per cent of eyes had a (near) normal vision, while VA of eyes with glaucoma or DCH was severely impaired in 28% and 67%, respectively. In the Dutch cohort, only 18% (6/33) of patients had (near) normal findings of both visual parameters. In addition, half of the patients with glaucoma suffered from a combination of a HH and VA impairment. In conclusion, although SWS patients are exposed to severe functional visual impairment due to the possible cumulative consequences of glaucoma, DCH and cerebral injury, description of the combination of both VA and VF results is scarce in the literature. Particularly, the combination of visual impairment due to glaucoma or DCH, and HH might be invalidating.

Sturge-Weber syndrome: Continued vigilance is needed.

Sturge-Weber syndrome (SWS) is a non-hereditary congenital disorder due to somatic mosaic mutations in the GNAQ gene. The classical presentation relates to the brain lesion (cerebral angiomatous lesion of leptomeninges, which is responsible for epileptic seizures, hemiparesis and mental retardation), skin lesion (unilateral facial nevus), ocular and oral involvement. We present a 12-year-old boy who was referred to the Division of Pediatric Neurology, King Saud University Medical City, Riyadh, Saudi Arabia with left-sided hemiparesis. Physical examination showed a port wine stain involving the right side of the face, extending to the upper thorax, and enlargement of both the right eye globe and cornea (megalocornea), indicating the presence of glaucoma. Following urgent referral to ophthalmology service, his eye condition improved dramatically post surgery. Neuroradiological investigations, including cranial computed tomography (CT) and magnetic resonance angiography (MRI) revealed the classical brain lesions of SWS, as well as right leptomeningeal choroidal angioma. Ten months later, he developed focal-onset seizures which responded to treatment. His cognition is normal with good school performance. Continued vigilance is needed to identify and manage the complications of SWS.

Treatment review of sight threatening circumscribed choroidal haemangioma.

AIM: To describe our clinical experience in treating circumscribed choroidal haemangioma (CCH) in a tertiary referral centre over a fifteen year period prior to photodynamic therapy. METHODS: The departmental database and photographic records of a tertiary referral center were used to identify patients who were treated for CCH between 1992 and 2007. Their case records were reviewed. RESULTS: Visual acuity improved (>2 Snellen lines) in eleven patients (69%) remained stable in one patient (6%) and deteriorated in four patients (25%). Six of the seven treated with brachytherapy and three of the four treated with transpupillary thermotherapy achieved better visual acuity after treatment. 86% of patients treated within six months of onset of symptoms and 50% of patients treated after six months of onset of symptoms noted an improvement in visual acuity. Only one patient in our series had a final VA of 6/60 or worse. Mean follow-up was thirty-five months. CONCLUSION: Visual outcome is better when treatment is performed within 6 months of symptoms. The majority of patients achieved an improvement in visual acuity without any adverse effect following treatment.