PHOTODYNAMIC THERAPY-INDUCED ACUTE EXUDATIVE MACULOPATHY IN A CASE SERIES OF CIRCUMSCRIBED CHOROIDAL HEMANGIOMA.

PURPOSE: To describe the incidence, features, and clinical outcomes of photodynamic therapy-induced acute exudative maculopathy (PAEM) in circumscribed choroidal hemangioma. METHODS: Prospective series of 10 patients who underwent standard-fluence photodynamic therapy for circumscribed choroidal hemangioma. Best-corrected visual acuity in the Early Treatment Diabetic Retinopathy Score and swept-source optical coherence tomography were performed before PDT and 3 days and 1 month after PDT. Central retinal thickness, circumscribed choroidal hemangioma retinal thickness, and subretinal fluid were measured. Photodynamic therapy-induced acute exudative maculopathy was considered as an increase ≥50 µ m in subretinal fluid or intraretinal fluid or the appearance of fibrin 3 days after photodynamic therapy. RESULTS: Six men and four women were included; median age was 55 years (19-69 years). The incidence rate of PAEM was 7 of 10. Five PAEM patients showed an increase in intraretinal fluid, two in subretinal fluid, and one developed abundant fibrin. Median best-corrected visual acuity at baseline was 57.5 letters (5-76 letters) being stable at 1 month (64 letters; 5-80) ( P = 0.03). Median central retinal thickness increased from 516 µ m (262-1,265 µ m) to 664.5 µ m after 3 days and diminished to 245 µ m after 1 month (156-1,363) ( P ≤ 0.022). In 6 of 7 of PAEM, a complete resolution of the fluid was obtained. CONCLUSION: Photodynamic therapy-induced acute exudative maculopathy was frequent in circumscribed choroidal hemangioma, although a favorable prognosis was observed in most cases.

Iodine-125 brachytherapy for choroidal melanoma by using Ocuprosta seeds with indigenous non-collimated plaques: Our initial experience.

PURPOSE: Brachytherapy is the gold-standard treatment for choroidal melanoma. This study evaluated iodine-125 brachytherapy by using Ocuprosta seeds with indigenous non-collimated plaques in Asian patients. METHODS: Retrospective single-center study in a tertiary care hospital of 12 eyes with choroidal melanoma in 12 Asian patients who underwent brachytherapy with Ocuprosta seeds fixed on non-collimated plaques and had a follow-up of at least 32 months (mean: 42.4 ± 9.5 months; median: 40 months). Radiotherapy was planned after developing the digital 3D model of the tumor within the eye by using radiological images and clinical pictures. Ocuprosta iodine-125 seeds were used on indigenous non-collimated gold plaques to deliver the radiation for precalculated time. "Successful outcome" was taken as a decrease in the volume of the tumor, and "unsuccessful outcome" was defined as no change in the tumor volume or increase in the tumor volume at 24 months after brachytherapy. RESULTS: The mean decrease in tumor volume was 21% (914.5 ± 912.2 mm3 to 495.7 ± 633.6 mm3) after brachytherapy, which correlated with the baseline volume of the tumor. Ten eyes (83.3%) showed a reduction in tumor volume, whereas two eyes showed an increase in the volume of the tumor after brachytherapy. One of the cases with a reduction in tumor size developed neovascular glaucoma. Enucleation was done in three eyes. A globe salvage rate of 75% and tumor regression rate of 83% were seen in the present study using Ocuprosta seeds. CONCLUSIONS: Iodine-125 brachytherapy with uncollimated indigenous gold plaques is an effective treatment modality for choroidal melanomas in Asian patients.

Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome.

Background: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge-Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in GNAQ at codon R183. Mutations in GNAQ or GNA11 result in dysregulation of the mitogen-activated protein kinase, which influences gene transcription and results in cellular proliferation. DCH may not always be readily detected on routine ophthalmological examination, consequently diagnosis and multidisciplinary referral are often delayed.Purpose: A literature search was performed through April 2020 without a lower date limit. This review will summarize the pathogenesis, diagnosis and management of DCH.Discussion: Multimodal imaging facilitates early detection of the condition. In particular, enhanced depth imaging spectral domain optical coherence tomography enables non-invasive, high-resolution visualization of the choroid to even detect mild choroidal thickening. Management of symptomatic DCH is generally difficult and results in poor visual outcome, thus, treatment is generally unwarranted, unless the hemangioma complicated by serous retinal detachment. The main treatment method is radiation therapy with external beam radiation therapy, proton beam therapy, plaque brachytherapy, and gamma knife surgery where low doses of radiation entail fewer complications. One method of alternative management is with photodynamic therapy that, although less invasive with a lower rate of complications, is not always feasible or effective in cases with extensive exudative retinal detachment.Conclusions: Multimodal ophthalmological imaging facilitates diagnosis of DCH and lifelong surveillance is essential in patients.

Retinal vascular abnormalities in Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) includes facial, leptomeningeal and choroidal hemangioma. The retinal vasculature is essentially normal. Rare cases of retinal vascular tortuosity and arterio-venous malformations have been reported. We report two cases with rare concomitant retinal vascular abnormalities along with SWS. Both the patients had nevus flammeus, hemifacial hypertrophy, and choroidal hemangioma. In one case, retinal cavernous hemangioma was seen in the affected eye. The other case revealed retinal neovascularization secondary to proliferative diabetic retinopathy in the eye with choroidal hemangioma.

Alteraciones retinocoroideas y cáncer pulmonar: primer reporte en población mexicana / Retinochoroidal findings and lung cancer: first report in mexican population

Introducción: El cáncer pulmonar (CP) es el tumor con mayor frecuencia y mortalidad a nivel mundial. Casos de metástasis coroideas y retinopatía asociada a cáncer han sido publicados en CP, sin embargo no existen estudios en población mexicana que describan las posibles alteraciones retinocoroideas y su relación con el estadio de CP. Objetivo: Evaluar a pacientes con CP para determinar la presencia de alteraciones en el segmento posterior y su relación con el estadio del mismo. Materiales y métodos: Estudio transversal y descriptivo de 50 pacientes (100 ojos) con CP. Datos demográficos: edad, sexo, tipo histológico, tiempo de evolución, estadio, tratamiento y comorbilidades. Variables de medición: agudeza visual (LogMAR), biomicroscopía del segmento anterior, registro fotográfico de retina, fluorangiografía retiniana, tomografía de coherencia óptica y electrorretinograma. Cada paciente fue evaluado por dos oftalmólogos. Resultados: Un total de 26 hombres y 24 mujeres fueron evaluados, el promedio de edad fue de 65 años, el tiempo medio del diagnóstico de CP fue de 6 meses siendo el adenocarcinoma el principal tipo histológico (70%), al momento de la evaluación 50% presentaban estadio II y 30% estadio IV. Las alteraciones del segmento posterior encontradas fueron: metástasis coroideas (16%), metástasis retinianas (10%), retinopatía asociada a cáncer (6%) y oclusiones vasculares (4%). La mayoría de los pacientes con alteraciones retinocoroideas se encontraban en estadio IV. Conclusiones: En el CP pueden encontrarse oclusiones vasculares, retinopatía asociada a cáncer y metástasis a coroides y retina con una incidencia mayor a la publicada en la literatura, siendo más frecuentes en estadios avanzados de la enfermedad aunque pueden encontrarse desde el estadio II en pacientes asintomáticos

Introduction: Lung cancer (LC) is the most common tumour, and the leading cause of cancer-related death worldwide. Although cases of choroidal metastasis and cancer-associated retinopathy have been reported in LC, no studies have been conducted on the Mexican population to describe retinochoroidal findings during the course of LC, and the relationship with its stage. Objective: To evaluate patients with a diagnosis of LC, and to describe the posterior segment findings in relationship to the stage of LC. Materials and methods: A cross-sectional and descriptive study was conducted on 50 patients with LC (100 eyes). The demographic data included age, gender, histological type, evolution time, stage, treatment, and comorbidities. The measurement variables included visual acuity (LogMAR), anterior segment biomicroscopy, retinal photography, fluorescein retinal angiography, optical coherence tomography, and electroretinogram. All patients were evaluated by two ophthalmologists. Results: The study included a total of 26 men and 24 women, with a mean age of 65 years, and a mean time from LC diagnosis of 6 months. The principal histological type was adenocarcinoma (70%), and most (50%) were in stage II at the time of evaluation, with 15 (30%) patients having a metastasis (stage IV). The changes in the posterior segment included choroidal metastasis (16%), retinal metastasis (10%), cancer-associated retinopathy (6%), and vascular occlusions (4%). The majority of patients who presented with posterior segment alterations were in stage IV. Conclusions: Vascular occlusions, cancer-associated retinopathy, choroidal and retinal metastases may be found in LC, with an incidence higher than that reported in the literature, especially in advanced stages of LC, although they can be found from stage II in asymptomatic patients

Choroid Osteoma in Schimmelpenning-Feuerstein-Mims Syndrome.

BACKGROUND: Schimmelpenning syndrome is a multisystem disorder. CASE CHARACTERISTICS: A term female neonate with sebaceous nevi of the face had choroid osteoma of the right eye. OBSERVATION: At one month of age, the infant was observed to have choroidal neovascularization that was successfully treated with laser photo-coagulation and anti-VEGF. MESSAGE: Choroid osteoma and neovascularization are rare associations of Schimmelpenning syndrome, and should be screened for and managed early.

Lurking below: massive choroidal invasion under a calcified tumor after attempted conservative therapy for retinoblastoma.

BACKGROUND: In the conservative management of retinoblastoma, detection of tumor activity beneath large, calcified tumors presents a challenging aspect of care as local consolidation is limited in this area. Routine imaging modalities, including magnetic resonance imaging, B-scan ultrasound, and optical coherence tomography, are also limited in providing appropriate surveillance for recurrent disease. MATERIALS AND METHODS: Medical records were reviewed to evaluate patients' demographic data, ophthalmic exams, imaging studies, and histopathologic reports. RESULTS: Three patients (two females and one male) were diagnosed with retinoblastoma (two bilateral and one unilateral) and managed with intravenous chemotherapy and local consolidation. In all three cases, the initial tumors regressed to form large, predominantly calcified tumors. However, it was observed that there continued to be nodular recurrences on the surface of the calcium without visible clinical activity at the base of the calcified lesion. All three cases ultimately required enucleation for these active nodular recurrences and massive choroidal invasion was noted under the calcified tumor. Ophthalmic exams and imaging studies did not provide consistent indication of choroidal disease in these cases, and the extensive calcification prevented detection of active disease at the tumor base on fundoscopy. CONCLUSIONS: Active choroidal disease at the base of large, calcified tumors cannot be ruled out with ophthalmologic examination and noninvasive imaging; suspicion of disease activity at the base should remain high for patients presenting with multiple recurrent nodules over a calcified tumor.

CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME.

PURPOSE: To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome. METHODS: Retrospective review of 5 patients. RESULTS: In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. The port-wine stain involved the chin (n = 1), jawline (n = 2), lower cheek (n = 1), thorax (n = 5), abdomen (n = 4), upper (n = 4), and lower (n = 3) limb(s). The ocular melanocytosis involved the sclera (n = 5), iris (n = 2) and choroid (n = 4). At diagnosis of choroidal melanoma, mean patient age was 57 years (median 61, range 17-83 years). The melanoma demonstrated mean basal diameter of 11.6 mm (median 12, range 5-16 mm) and mean thickness of 5.7 mm (median 6.1, range 2-9), revealing intrinsic tumor pigment and subretinal fluid in all cases. Melanoma management included plaque radiotherapy (n = 3), thermotherapy (n = 1), or enucleation (n = 1). At mean follow-up of 4 years, one patient demonstrated melanoma-related metastasis with death. CONCLUSION: Phakomatosis pigmentovascularis represents coexistence of Klippel-Trenaunay syndrome (or Sturge-Weber syndrome) and oculo(dermal) melanocytosis, promoting risk for life-threatening uveal melanoma. The authors suggest that all patients with Klippel-Trenaunay syndrome be evaluated for phakomatosis pigmentovascularis and affected patients have dilated fundus examination once or twice a year.

Successful Treatment with Alectinib for Choroidal Metastasis in Anaplastic Lymphoma Kinase Rearranged Non-small Cell Lung Cancer.

Choroidal metastasis is rare in cancer patients and it may cause visual disturbances that reduce their quality of life. In non-small cell lung cancer (NSCLC), targeted therapy against actionable driver mutations has gradually replaced radiotherapy as the treatment of choice for choroidal metastasis. Recently, there have been several case reports of choroidal metastasis in patients with anaplastic lymphoma kinase (ALK)-rearranged NSCLC. We herein report the case of a 40-year-old Japanese woman diagnosed with choroidal metastasis of an ALK-rearranged NSCLC who received alectinib as the first-line chemotherapy. Alectinib may be the best treatment for choroidal metastasis in patients harboring an ALK translocation because of its favorable side effect profile involving visual disturbances.

Scleral Buckle-Associated Ciliochoroidal Melanoma.

PURPOSE: To describe a case of a ciliochoroidal melanoma arising from the site of a scleral buckle. DESIGN: Observational case report. METHOD: A 69-year-old female was referred for evaluation of decreased vision and occasional floaters in the left eye for two months. Eight years previously, she had undergone vitrectomy and scleral buckling for rhegmatogenous retinal detachment repair in the same eye. Clinical examination revealed an elevated, pigmented choroidal mass in the inferonasal periphery at the crest of the scleral buckle. Clinical and ultrasonographic features were consistent with ciliochoroidal melanoma. RESULTS: The patient underwent Iodine-125 brachytherapy with plaque placement directly on the scleral buckle. Intraoperative ultrasonography confirmed accurate plaque position. Appropriate tumor response was demonstrated at serial follow up-evaluations; however, over 48 months, the patient developed gradual decline in vision secondary to radiation retinopathy. CONCLUSION: Choroidal melanomas may arise from the same location as a scleral buckle and local tumor control with brachytherapy can be achieved without manipulation or removal of the buckle element. However, we encourage orbital surgeons to consider the radiation attenuating effect of silicone, found in the buckle, in order to prevent undertreatment of these melanomas.

Sex Differences in the Relationship Between Obesity and Choroidal Nevus in US Adults.

PURPOSE: To investigate sex differences and the effect of other variables on the association between obesity and choroidal nevus in the US adult population. METHODS: The study population of this cross-sectional study included 5575 subjects aged ≥40 years from the 2005 to 2008 National Health and Nutrition Examination Survey (NHANES) who underwent retinal imaging. Primary predictor variables were body mass index (BMI) when the subject was 25 years old ("former BMI") and BMI at time of NHANES participation ("current BMI"). Body mass index was classified "elevated" (≥25 kg/m2) versus "normal" (<25 kg/m2). The main outcome measure was choroidal nevus in either eye on retinal imaging. Subgroup analysis was stratified by sex and race. RESULTS: The mean age of the study population was 56.4 years, with 47.3% male and 52.7% female subjects. The prevalence of choroidal nevus was 4.7% overall. Former elevated BMI was associated with choroidal nevus in the overall population (odds ratio [OR]: 1.35, 95% confidence interval [CI]: 1.06-1.71, P = 0.01) and males (OR: 1.43, CI: 1.03-1.99, P = 0.03). Current elevated BMI was associated with choroidal nevus in the overall population (OR: 1.37, CI: 1.02-1.85, P = 0.04); females (OR: 1.72, CI: 1.11-2.68, P = 0.02), and postmenopausal females (OR: 1.94, CI: 1.23-3.06, P = 0.006). CONCLUSIONS: Choroidal nevus is associated with former and current obesity. Sex and postmenopausal status differences in this association could provide insight into the demographics of patients at risk for developing choroidal nevus.

CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME.

PURPOSE: To report a case of choroidal malignant melanoma in a patient with Waardenburg syndrome and bilateral choroidal pigmentary abnormalities. METHODS: Clinical examination and multimodal imaging of the case. RESULTS: A 45-year-old woman presented with asymptomatic flat choroidal pigmentation abnormalities in both eyes. A choroidal lesion was identified in the inferotemporal periphery of the left eye arising from an area of hyperpigmentation; ultrasonography findings were consistent with a choroidal melanoma. The patient endorsed a personal and family history of premature graying of hair and was identified to have dystopia canthorum consistent with the diagnosis of Waardenburg syndrome. CONCLUSION: The authors present the first reported case of concurrent Waardenburg syndrome and choroidal malignant melanoma. This cooccurrence may suggest that the relative hyperpigmented regions in affected fundi may be abnormal and should be monitored closely for the development of choroidal melanoma.

Management of diffuse choroidal hemangioma in Sturge-Weber syndrome with Ruthenium-106 plaque radiotherapy.

PURPOSE: To evaluate Ruthenium-106 plaque radiotherapy in the treatment of diffuse choroidal hemangioma (DCH) associated with serous retinal detachment. METHODS: A retrospective analysis was performed in five patients treated for DCH associated with Sturge-Weber syndrome (SWS). In all cases, Ruthenium-106 plaque therapy with a target apex dose of 30.98-47.36 Gy (mean:38.9 Gy) was performed. The outcomes of treatment were regression of DCH, assessed by B-scan ultrasonography; resolution of serous retinal detachment, measured by B-scan ultrasonography and optical coherence tomography (OCT); changes in best corrected visual acuity (BCVA) and the development of radiation-related complications. All investigations were repeated 3 months after treatment and then at six monthly intervals within 22-122 months (mean: 62 months) of follow-up. RESULTS: The initial BCVA of the affected eyes ranged from counting fingers at 1 m to 0.1 by the Snellen chart. Mean tumor basal diameter was 16.7 mm (range: 13.8 to 18.5 mm) and mean tumor thickness was 4.4 mm (range: 2.4 to 5.8 mm). Tumor regression was found in all cases with the prompt resolution of subretinal fluid. In three patients, BCVA improved and in two it remained stable. During the follow-up period, in one case secondary glaucoma was treated with transscleral cyclophotocoagulation, and in another case, recurrence of the hemangioma was treated with repeated Ruthenium-106 plaque irradiation and transpupillary therapy. CONCLUSION: Ruthenium-106 plaque radiotherapy is an effective and safe treatment option for DCH associated with SWS. Brachytherapy led to tumor regression and resolution of serous retinal detachments, and visual stabilization was achieved in most cases.

Photodynamic therapy for diffuse choroidal hemangioma in a child with Sturge-Weber syndrome.

Sturge-Weber syndrome is a rare neurocutaneous disorder involving the leptomeninges, skin of the face, and, in 40% of cases, diffuse choroidal hemangioma. We report the case of a 6-year-old girl with Sturge-Weber syndrome and a large diffuse choroidal hemangioma with retinal detachment involving the majority of the retina. The patient underwent photodynamic therapy. The retinal detachment resolved completely within 3 months of treatment. This case represents the youngest patient in the literature to undergo successful treatment with photodynamic therapy for Sturge-Weber syndrome-associated diffuse choroidal hemangioma.

Review of choroidal osteomas.

Choroidal osteomas are rare benign ossifying tumors that appear as irregular slightly elevated, yellow-white, juxtapapillary, choroidal mass with well-defined geographic borders, depigmentation of the overlying pigment epithelium; and with multiple small vascular networks on the tumor surface. Visual loss results from three mechanisms: Atrophy of the retinal pigment epithelium overlying a decalcified osteoma; serous retinal detachment over the osteoma from decompensated retinal pigment epithelium, and most commonly from choroidal neovascularization. Recent evidence points to the beneficial effects of intravitreal vascular endothelial growth factor antagonists in improving visual acuity in serous retinal detachment with or without choroidal neovascularization.

Choroidal ganglioneuroma in a patient with orbitopalpebral neurofibromatosis.

Ganglioneuroma is a rare, benign tumor originating from the sympathetic ganglion cells. Choroidal ganglioneuroma in association with neurofibromatosis type 1 (NF-1) has been reported in a few cases. This study describes a 21-year-old woman with orbitopalpebral NF, who underwent evisceration for pseudophakic bullous keratopathy, intractable glaucoma, and absolute painful eyes and who was found to have choroidal ganglioneuroma and retrobulbar plexiform neurofibroma on histologic examination. This case, together with the previously described cases, suggests that eyes with choroidal ganglioneuromas may have some common clinical and prognostic characteristics, although this condition cannot be diagnosed preoperatively. In patients with NF-1 who may undergo eye removal surgery, the possibility of choroidal tumors should be kept in mind.

Evanescent vaso-occlusive choroidal pseudo-tumor with acute painful onset: a presumed vortex vein occlusion.

PURPOSE: The aim of our study was to describe the clinical presentation of an unusual evanescent, exudative, choroidal pseudo-tumor with acute painful onset, and propose a pathogenesis. METHODS: We carried out a retrospective, observational study using the case series of three patients presenting with an evanescent, exudative, choroidal pseudo-tumor with acute painful onset. Ultra-widefield fluorescein and indocyanine green angiography (ICGA) using the Heidelberg Retina Angiograph and the Staurenghi 230 SLO Retina Lens were used to propose a pathogenesis of this unusual entity. RESULTS: In all three cases, acute ocular pain led to discovery of an exudative, partially hemorrhagic choroidal mass (thickness 2.4 mm-4.1 mm on ultrasound) that quickly regressed within weeks. In the subacute phase, all patients showed choroidal circulation abnormalities on dynamic wide-field ICGA in the affected quadrant, with delayed arterio-venous filling in two patients, and a poorly-defined vortex vein in the third. The choroidal circulation abnormalities resolved within 8-12 weeks, simultaneously with the spontaneous resolution of the choroidal pseudo-tumor. The findings evoked a self-resolving vortex vein occlusion in the corresponding quadrants with acute, painful choroidal exudation. CONCLUSIONS: An evanescent, exudative, hemorragic choroidal pseudo-tumor with acute painful onset may be caused by a vortex vein occlusion. Future patients need to be studied with ICGA in the acute phase to confirm this hypothesis.

Oral propranolol therapy for management of exudative retinal detachment from diffuse choroidal hemangioma in Sturge-Weber syndrome.

PURPOSE: Diffuse choroidal hemangioma (DCH), a feature of Sturge-Weber syndrome, is most often treated with whole-eye radiotherapy at stage of complications such as retinal detachment. METHODS: This is a case report of a 17-year-old boy with DCH and exudative retinal detachment. RESULTS: The patient was treated with propranolol at 60 mg twice a day for 2 months followed by gradual dose taper to 10 mg twice a day per month and discontinued at 7 months. The retinal detachment slowly resolved over 1 month and the retina remained attached at 10 months follow-up. There were no medication side effects. CONCLUSIONS: We suggest that oral propranolol be considered in the armamentarium for selected DCH.