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.

Retinoblastoma.

PURPOSE OF REVIEW: Retinoblastoma is the most common malignant intraocular tumor of childhood. Treatment and diagnostic modalities associated to this condition are changing rapidly as our understanding of this condition crystallizes. The purpose of this review is to provide an update of the current understanding of retinoblastoma. RECENT FINDINGS: Knowledge on tumorigenesis and genomic expression has expanded tremendously with the development of a mouse model for retinoblastoma. Tumor hypoxia has been identified as a significant step in the tumor progression and a novel target for future treatments. Current globe-sparing therapies, including periocular carboplatin, selective ophthalmic artery chemoreduction, intravitreal melphalan, and focal consolidation are being used and investigated actively. Diagnosis and the management of retinoblastoma is also undergoing major advances including wide-field photography, autofluorescence, and high-resolution optical coherence tomography. SUMMARY: Progressive advances in the understanding of retinoblastoma pathogenesis continue to lead treatment strategies. Improvements in the diagnosis and management of retinoblastoma are improving morbidity and mortality associated to this condition in the developed nations. However, it is of outmost importance to flatten the international boundaries to offer prompt care to retinoblastoma children in underdeveloped communities.

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.