Case Report: Importance of B-scan Ultrasonography for the Detection of Choroidal Melanoma.

SIGNIFICANCE: This case highlights the importance of using ultrasonography to evaluate an eye that has no clear view of the fundus. PURPOSE: Uveal melanoma stems from melanocytes found in the iris, ciliary body, and choroid, and it is the most common primary intraocular malignancy found in adults. The lesion is identified predominantly via fundus biomicroscopy and binocular indirect ophthalmoscopy. The authors present a unique case where visual evaluation of the fundus was not possible, and ultrasonography was used to assess the retina and choroid. CASE REPORT: A 38-year-old Hispanic man with prior ocular trauma presented with an eye that could not be clinically examined owing to complete pupil occlusion. The diagnosis of presumed uveal melanoma was made exclusively based on the outcome of ocular ultrasonography. Further histologic, antibody, and genetic testing was completed once the patient had undergone treatment of the affected eye and uveal melanoma was confirmed. CONCLUSIONS: In this rare instance, B-scan ultrasonography provided a finding that required the patient to undergo enucleation in an eye without visual potential. Genetic testing was then used to appropriately categorize the tumor as a class 1B melanoma, indicating that there is a risk of metastasis. Consequently, the patient is being monitored by a medical oncologist.

Giant retinal tear after intra-arterial chemotherapy for advanced unilateral retinoblastoma.

BACKGROUND: Retinoblastoma is considered the most common intraocular malignancy in childhood, comprising 4% of all pediatric cancers. Management of retinoblastoma has evolved over the past two decades and intra-ophthalmic artery chemotherapy has emerged as a new modality of globe-conserving treatment with excellent results. This treatment achieves effective tumor reduction by delivering localized chemotherapy, decreases enucleation rate, and minimizes systemic and local side effects. CASE PRESENTATION: We report the case of an 8-year-old girl with a late presentation of an advanced unilateral retinoblastoma associated to diffuse exudative retinal detachment in the right eye, classified as group E by the International Classification of Retinoblastoma. The initial therapeutic proposal for the patient was five sessions of intra-ophthalmic artery chemotherapy (IAC) associated to large spot diode laser therapy. After undergoing four sessions of IAC, the fundus exam revealed a giant retinal tear associated to a total retinal detachment in the affected eye. The IAC treatment was concluded and enucleation was considered the best treatment option at that moment, since IAC was unable to control the tumor's activity and the patient's eye presented with a complex rhegmatogenous retinal detachment (RRD). However, family left for a second opinion and never returned. CONCLUSIONS: The usage of IAC for retinoblastoma management may lead to important local complications. Despite rare, RRD secondary to IAC may occur. We postulate that the giant tear observed in this case was caused by the rapid tumor necrosis using this route of treatment.

Terson's Syndrome in a Patient with von Hippel-Lindau Disease.

PURPOSE: Terson's syndrome is a condition where a preretinal hemorrhage forms as a result of increased intracranial pressure. The elevated intracranial pressure is thought to be transmitted through the veins and the optic nerve sheath to the optic disc and retina, causing the thin capillary walls to rupture. The authors present a unique case of Terson's syndrome in a patient who underwent recent surgical management for cerebellar hemangioblastomas related to von Hippel-Lindau disease. CASE REPORT: A 17-year-old African American female patient with a history of von Hippel-Lindau disease presented with pain in her right eye. She had recently undergone surgery to remove cerebellar hemangioblastomas. Preliminary fundus imaging was performed, but before formal ophthalmic testing could be conducted, the patient seized and was taken directly to the emergency room. When the patient returned for a formal evaluation 3 weeks later, a new preretinal "boat-shaped" hemorrhage was now present. Additionally, reports from the emergency room suggested that she had bled into the cavity where the previous cerebellar resection had taken place. This hemorrhage likely led to an increase in intracranial pressure, causing a Terson's-like event. CONCLUSIONS: A Terson's event may be caused by high intracranial pressure secondary to the surgical removal of von Hippel-Lindau syndrome-associated cerebellar tumors and should be included as a possible complication of surgical management.

Clinical findings and genetic expression profiling of three pigmented lesions of the optic nerve.

Background. Optic disk melanocytoma is a primary tumor of the optic disk that represents a clinical diagnostic challenge due to its similarities with melanoma. Purpose. The authors present three cases in which genetic expression profiling was used to identify tumor prognosis of optic disk melanocytoma. Case Series. In two cases fine-needle aspiration biopsy was performed to obtain tissue through a transvitreal route into the apex of the tumor while the patient underwent pars plana vitrectomy, laser ablation, phacoemulsification with posterior chamber intraocular lens implantation, and intravitreal triamcinolone acetonide. In the other case the tissue was obtained after definite enucleation. Conclusion. Genetic expression profiling is a useful diagnostic tool for classification and can provide vital information to the ocular oncologist regarding prognosis.

Simple hamartoma of the retinal pigment epithelium with macular edema.

PURPOSE: Presumed congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare intraocular finding that is described as a focal, nodular, jet black lesion. These lesions frequently occur at or near the macula and have no known association with changes in the surrounding neurosensory retina, retinal pigment epithelium, or choroid, nor have they been related with exudation or hemorrhage. Until now, there have been no cases reported of CSHRPE with associated vascular activity. CASE REPORT: A 14-year-old Hispanic adolescent girl with a presumed CSHRPE presented with adjacent macular edema. The patient was treated with an off-label intravitreal bevacizumab injection to decrease the edema. Two months later, the patient presented with improved visual acuity and decreased macular edema. CONCLUSIONS: This is the first documented case of macular edema secondary to vascular activity being associated with these rare lesions. When CSHRPE is found to have secondary vascular activity and associated macula edema, treatment of intravitreal bevacizumab may lead to improved visual and anatomical outcomes.

Phacovitrectomy.

Recent advances in vitreoretinal surgical technology combined with advances in small-incision cataract surgery have enabled the ophthalmic surgeon to provide combined management of cataract and retinal pathology. Progressive understanding of the inevitability of cataract progression after pars plana vitrectomy along with the negative impact of early cataract progression on visual acuity outcomes have defined the importance of combined cataract surgery and pars plana vitrectomy in improving surgical outcomes. Combining phacoemulsification with intraocular lens placement with vitrectomy has now been shown to decrease visual rehabilitation time in patients with early/visually significant cataracts. These benefits are especially apparent when complex ocular pathology is present and clear visualization during surgery is needed. This report focuses on specific factors pertaining to combined surgery that include patient selection, mechanics of phacovitrectomy, and potential complications. The authors report that utilization of combined phacovitrectomy at their institution has had an outstanding success rate with 95% of the patients achieving 2-line or greater improvements in visual acuity within 6 weeks of surgery. Combined phacovitrectomy is associated with a significant reduction in overall healthcare costs that may become more important in this era of healthcare reform. Finally, rapid adoption of combined phacovitrectomy has occurred internationally, but remains delayed at most institutions in the USA.

Tapioca melanoma of the iris without iris heterochromia.

PURPOSE: A case of a teenage girl with tapioca melanoma of the iris is presented. This case is unusual, as the patient did not have heterochromia and did not present with elevated intraocular pressure. CASE REPORT: A 14-year-old female patient presented with an amelanotic, multinodular, multifocal lesion of the right iris. Pathology confirmed a diagnosis of tapioca melanoma using immunohistologic staining. The patient underwent enucleation of her right eye and has been free of metastatic disease 3 years later. CONCLUSIONS: Tapioca melanoma of the iris must be included among the other differential diagnoses when examining patients with amelanotic iris lesions, even when iris heterochromia is not clearly evident.

Spectral-domain optical coherence tomography evaluation of choroidal melanoma and nevus fine-needle aspiration biopsy incision sites.

The authors present three cases in which spectral-domain optical coherence tomography was used to identify fine-needle aspiration biopsy incision sites. These biopsies were performed to obtain tissue for gene expression profiling of choroidal tumors. A transvitreal route into the apex of the tumors was utilized for the biopsies while the patients underwent pars plana vitrectomy, membrane peel, laser ablation, phacoemulsification with posterior chamber intraocular lens implantation, and intravitreal triamcinolone acetonide. To the best of the authors' knowledge, this is the first report documenting fine-needle aspiration biopsy incision wound architecture of the posterior segment with optical coherence tomography.

Uveal melanoma gene expression status post radiotherapy.

PURPOSE: Gene expression profiling has been shown to yield two distinct molecular genetic signatures for uveal melanoma. These class designations tend to predict tumor aggressiveness and the likelihood of metastasis. Tumors with a class 1 genetic signature are generally much less aggressive than tumors with a class 2 genetic signature. Gene expression analysis for previously treated uveal melanoma has not yet been reported. The authors report three cases where genetic analysis was successfully obtained from uveal melanoma that was previously treated years earlier with radiotherapy. CASE REPORT: The patients in all three cases received globe-conserving radiotherapy for treatment of choroidal melanoma before gene expression profiling was readily available. The patients in cases 1 and 2 received 125I plaque brachytherapy while the patient in case 3 received proton irradiation therapy. When secondary surgery was necessary to stabilize these eyes from the effects of radiation retinopathy, fine-needle aspiration biopsy was also performed for gene expression profiling. Genomic analysis revealed a class 1 molecular signature for the patient in case 1 and a class 2 molecular signature for the patients in cases 2 and 3. CONCLUSIONS: Gene expression profiling for uveal melanoma may be obtained from patients who were previously treated with radiotherapy; however, the implication of these results will benefit from ongoing clinical evaluation.

Spontaneous exudative retinal detachment in a patient with sturge-weber syndrome after taking arginine, a supplement for erectile dysfunction.

BACKGROUND: Patients with Sturge-Weber syndrome can have ipsilateral diffuse or circumscribed choroidal hemangiomas. These hemangiomas have been seen to undergo spontaneous exudative or hemorrhagic retinal detachments. There is no definitive treatment for these types of retinal detachments, but radiotherapy, photodynamic therapy, oral propranolol, pegaptinib and bevacizumab have been used. CASE PRESENTATION: A 26-year-old male with Sturge-Weber Syndrome developed an exudative retinal detachment that occurred immediately after taking a supplement containing arginine. The patient was treated with intravitreal bevacizumab 1.25 mg in 0.05 ml solution. Resolution of the retinal detachment was seen after 4 treatments over a six-month period. CONCLUSIONS: Arginine and other medications that cause a release of nitric oxide may lead to intravascular leakage and exudative retinal detachments in patients who have a choroidal hemangioma.

Posterior uveal melanoma coexistent with macular hole.

PURPOSE: Three rare cases of macular holes coexistent with posterior uveal melanoma are presented. The possible pathogenesis of a macular hole secondary to uveal melanoma growth is discussed, as well as strategies to treat uveal melanoma before attempting macular hole repair. CASE REPORT: Each patient from all three cases had a macular hole and uveal melanoma at the initial presentation. The macular holes were present before uveal melanoma treatment in cases 1 and 2. The patient in case 3 had already been treated elsewhere with iodine-125 plaque brachytherapy for her melanoma. It was not known if macular hole formation occurred before or after that treatment. Macular hole repair was performed in case 1, and the hole was successfully closed. CONCLUSIONS: To the best of the authors' knowledge, there are now only nine documented cases of macular holes accompanying posterior uveal melanoma. Successful macular hole repair may prove difficult because the melanoma must first be properly treated and then monitored carefully to establish tumor inactivity.

Long-term followup comparing two treatment dosing strategies of (125) I plaque radiotherapy in the management of small/medium posterior uveal melanoma.

Objective. To investigate the efficacy of two different dosing strategies of radioactive iodine-125 ((125)I) in the management of small- and medium-sized posterior uveal melanoma. Patients and Methods. The medical records of consecutive patients with choroidal melanomas between 1.5 and 5.0 mm in apical height treated initially with (125)I plaque radiotherapy were reviewed. Patients were treated with one of the following two treatment dosing strategies: (1) 85 Gy to the apical height of the tumor (group 1) or (2) 85 Gy to a prescription point of 5.0 mm (group 2). Results. Of 95 patients, 55 patients were treated to the apical height of the tumor, and 40 were treated to a prescription point of 5.0 mm. Comparative analysis of the incidence rates of specific complications between the two groups demonstrates that group 2 had a significantly higher incidence of radiation retinopathy, radiation optic neuropathy, and/or visually significant cataract formation than group 1 (P = 0.028). Conclusion. Treatment of choroidal melanomas less than 5 mm in apical height with (125)I brachytherapy to the true apical height is equally effective when compared to treatment with 85 Gy to 5.0 mm. Treatment to the apical height of the tumor may result in lower incidence of radiation-related complications.

Clinical imaging and high-resolution ultrasonography in melanocytoma management.

PURPOSE: To demonstrate the utility of high resolution 20 MHz ophthalmic ultrasound in serial follow-up of optic nerve head melanocytoma patients. METHODS: This study is a retrospective review of 30 patients with melanocytoma of the optic nerve head studied with echography. All patients were evaluated with standard ophthalmic A-scan and B-scan ultrasonography and 10 (33%) underwent high-resolution ultrasound. RESULTS: Sixty-two percent (62%) of patients had dome-shaped lesions on ultrasound, twenty-eight percent (28%) presented with mild elevations. The maximum elevation of any lesion was 2.6 mm. The vast majority (89%) of lesions had medium or high internal reflectivity and 89% demonstrated avascularity. Mean follow-up for all patients was nearly 7 years. High-resolution ultrasound enabled enhanced accuracy for detection of lesion dimensions and documentation of growth and possible malignant transformation. CONCLUSIONS: In this study, we demonstrate a new and important role for the use of ultrasound in this disease as a complementary tool in identifying and following patients with high-risk growth characteristics. These tumor characteristics can be accurately detected with 10 MHz ultrasound in conjunction with standardized A-scan and better differentiated with the 20 MHz technology. Use of these modalities can aid in distinguishing the melanocytomas that grow from choroidal melanomas and can prevent unnecessary treatments.

Pupillary Block Glaucoma Secondary to Phacodonesis in Pseudoexfoliation.

The authors present a clinical case of unilateral narrow angle glaucoma in the setting of pseudoexofoliation (PXF) and review the relevant literature and treatment of pseudoexfoliaton-related angle closure. They describe a case of pupillary block with secondary angle closure resulting from anterior subluxation of the lens arising secondary to zonular weakness related to PXF. This mechanism is demonstrated with slit lamp exam and anterior segment ultrasound biomicroscopy (UBM). This case helps to document and better characterize the occurrence of narrow angles and angle closure glaucoma arising in PXF, an entity that is not well documented in the literature. The case also illustrates the need for periodic gonioscopy and examination of anterior chamber depth to evaluate for prophylactic peripheral laser iridotomy to prevent angle closure glaucoma in patients with PXF.

Echographic localization of periocular Carboplatin for treatment of advanced retinoblastoma.

PURPOSE: To study ocular ultrasonography as a means to effectively localize periocular carboplatin in patients with advanced retinoblastoma. METHODS: In a cases series, seven patients diagnosed with advanced retinoblastoma refractory to standard chemotherapy were treated with two to four periocular carboplatin injections. Echographic images were obtained before and after injection. RESULTS: The periocular carboplatin depot was a discrete homogeneous structure with lower internal reflectivity than the surrounding orbital tissue. The mean maximal juxtascleral height of the drug depot ± SD was 3.3 ±1.4 mm and was located directly posterior to the area of maximal intraocular tumor thickness in all seven patients. Moderate shadowing from calcification was present in one patient. Five patients had a pattern of a thinner pocket of drug visible after subsequent injections. CONCLUSIONS: Echography is a useful technique to study novel periocular drug delivery. It effectively images the drug in relation to the intraocular tumor, confirming the most effective drug placement for these resistant tumors.

The impact of echography on evaluation and management of posterior segment disorders.

PURPOSE: To investigate the impact on patient management of posterior segment echographic evaluation at an academic institution. DESIGN: Retrospective, noncomparative, consecutive case series. METHODS: Records were reviewed of all patients evaluated for the first time with ocular echography for posterior segment evaluation at Bascom Palmer Eye Institute between September 2000 and August 2001. Patients with prior posterior segment echography, intraocular tumors, or suspected optic nerve or orbital disease were excluded. An "impactful" echographic evaluation was defined as an evaluation that confirmed the diagnosis and management plan. A "pivotal" evaluation was defined as an evaluation that either (1) made or subclassified the diagnosis or (2) established or changed the management plan or both. Main outcome measures include proportions of impactful and pivotal echographic evaluations and factors associated with pivotal evaluations. RESULTS: The study included 154 eyes of 143 patients. The requesting physician was a retina fellowship-trained faculty member in 55 cases (36%), a nonretina faculty member in 22 (14%), a fellow in 9 (6%), and a resident in 68 (44%). Reasons for obtaining echography included evaluation for retinal tear or detachment in 83 eyes (54%), evaluation for posterior segment disease (for example, before cataract extraction) in 40 (26%), evaluation for endophthalmitis in 10 (7%), evaluation for intraocular foreign body in 8 (5%), characterization of choroidal detachment in 4 (2%), and other in 9 (6%). Echography confirmed the suspected diagnosis and pre-echography management plan in 128 eyes (83%). Echography made or subclassified the diagnosis in 20 eyes (13%) and established or changed the management plan in 12 eyes (8%). Accounting for definitional overlaps, echography was pivotal in 22 eyes (14%). Significant predictors of a pivotal evaluation or an evaluation that affected the management plan include a retina faculty member as the requesting physician (P =.003), lack of a management plan before echography (P <.001), and certain reasons for obtaining echography (for example, to rule out retinal tear or detachment and to rule out intraocular foreign body; P =.032). The final clinical or pathologic diagnosis confirmed the echographic diagnosis in 148 eyes (96%). CONCLUSIONS: Posterior segment echography may be a very useful diagnostic tool. Its value may be optimized in certain subsets of patients. Considerations such as these may contribute to more cost-effective allocation of resources.

Echography as a useful adjunct in the diagnosis of orbital solitary fibrous tumor.

PURPOSE: To describe the echographic features of solitary fibrous tumor of the orbit. METHODS: A retrospective review of 3 patients with solitary fibrous tumor of the orbit and a literature review were performed. RESULTS: Three patients with orbital solitary fibrous tumor were studied with standardized echography and 3 other cases of orbital solitary fibrous tumor with ultrasound descriptions were identified in a literature review. Consistent echographic features of the 6 orbital solitary fibrous tumors included firmness, low to medium internal reflectivity, regular internal structure, moderate sound attenuation, and some degree of vascularity. CONCLUSIONS: Standardized echography is a useful adjunct in the evaluation of orbital solitary fibrous tumors and can help differentiate these tumors from other orbital lesions.