Case Report: Two Genetically Distinct Choroidal Melanomas in the Same Eye Treated with Endolaser Therapy.

SIGNIFICANCE: This case report highlights the merits of using fine needle aspiration biopsy to obtain gene expression profiling of individual choroidal melanomas when more than one tumor arises in the same eye. It is also the first such case to document laser ablation therapy as the primary treatment. PURPOSE: This report describes a case of two primary choroidal melanomas with different genetic profiles in the same eye. CASE REPORT: An 80-year-old man presented to the office with a neoplasm of uncertain behavior in the left eye. The patient's visual acuity and IOP in the left eye, respectively, at the time of his first visit to the office were 20/25 and 8 mmHg. A dilated fundus examination revealed that there were two choroidal lesions in the left eye. The macular lesion was classified as type 1A, and the ciliochoroidal lesion was classified as type 1B. The patient underwent a vitrectomy of the left eye, followed by endolaser ablation of the tumors. The patient was also injected with bevacizumab. To date, the patient is free of known metastasis. Most recently, his visual acuity and IOP in the left eye were 20/30 and 14 mmHg, respectively. CONCLUSIONS: Although rare, multiple melanomas in the same eye may have differing genetic profiles, which may alter prognosis and management, depending on the class of tumor detected.

Case Report: Endogenous Candida Endophthalmitis in Cornelia de Lange Syndrome: Atypical Stellate Neuroretinitis.

SIGNIFICANCE: This study aimed to highlight the association of stellate neuroretinitis occurring secondary to endogenous candidemia. PURPOSE: We report an unusual presentation of endogenous Candida endophthalmitis as a stellate neuroretinitis in the setting of Cornelia de Lange syndrome. CASE REPORT: A 34-month-old girl with severe Cornelia de Lange syndrome and a history of parenteral nutrition dependence requiring a chronic central venous catheter presented with bilateral endophthalmitis secondary to candidemia. In one eye, the endophthalmitis had the atypical presentation as a stellate neuroretinitis. CONCLUSIONS: This case represents a unique association of stellate neuroretinitis secondary to Candida infection in a patient with Cornelia de Lange syndrome.

Case Report: Suprachoroidal Hemorrhage after Chiropractic Manipulation of the Neck.

SIGNIFICANCE: The case report highlights the possible complications of undergoing neck manipulation within a critical time period after intravitreal injection. PURPOSE: This study aimed to describe a case of traumatic hemorrhagic choroidal detachment after cervical manipulation during a chiropractic treatment session. CASE REPORT: A 43-year-old male patient with a history of complex rhegmatogenous retinal detachment repair and recurrent cystoid macular edema presented with decreased vision and sudden pain in the right eye after chiropractic manipulation of the neck, status post-intravitreal injection of triamcinolone, which was performed earlier that day. Vision in the right eye was hand motion and 20/20 in the left eye. IOPs were 8 and 11 mmHg, respectively. Slit lamp examination of the right eye revealed blood-tinged steroid residues in the anterior chamber. There was no view to the posterior pole. Ultrasonography showed a lobulated mass with heterogeneous echogenicity consistent with a large hemorrhagic choroidal detachment. No central kissing was observed. Left eye examination was unremarkable. CONCLUSIONS: With the increasing use of complementary and alternative medicine, a better understanding of potential complications to raise awareness is becoming essential.

Acute Orbital Compromise after Intra-Arterial Chemotherapy in a Complex Retinoblastoma Associated with 13q Deletion Syndrome.

INTRODUCTION: The intra-arterial chemotherapy (IAC) is increasingly used as a first-line therapy for retinoblastoma. The IAC has proved to be relatively safe. However, many local side effects of IAC have been described. CASE PRESENTATION: This case report describes a local side effect presenting as proptosis and myositis with vascular access difficulty of the middle meningeal artery, in a 2-year-old male with left eye diffuse multifocal stage Vb retinoblastoma complicated with retinal detachment. DISCUSSION/CONCLUSION: IAC is assured to provide as efficient results in eliminating the tumor as the systemic chemotherapy, without causing the systemic side effects. It has become an alternative to systemic chemotherapy. A better understanding of the local side effects is required.

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.

Atypical Exophytic Retinal Capillary Hemangioma and Diagnostic Modalities.

PURPOSE: Retinal capillary hemangioma (RCH) can occur in isolation or may be associated with von Hippel-Lindau disease. The classic RCH is described as a globular reddish lesion with a dilated feeding artery and a tortuous draining vein, indicative of a common endophytic growth pattern. Exophytic patterns are far more rare and, because of its subtle appearance, often missed or misdiagnosed. CASE REPORT: A 24-year-old woman presented with complaints of a mid-peripheral superior field defect OS. She had no family history of von Hippel-Lindau disease. Best-corrected visual acuity was 20/20 OD, OS. Dilated fundus examination of the left eye revealed a peripheral large inferotemporal retinal lesion with an overlying vascular network. Corresponding feeding and draining vasculature was not clearly noted on dilated fundus examination. Optical coherence tomography, ultrasonography, and fluorescein angiography testing were used to confirm the diagnosis of an exophytic peripheral RCH. Anti-vascular endothelial growth factor injections and cryotherapy were initiated, and the patient was scheduled for radioactive plaque brachytherapy. Genetic testing and proper scans were also recommended. CONCLUSIONS: This case illustrates an atypical exophytic peripheral RCH, rarely reported in the literature. The utilization of a variety of diagnostic modalities was highly effective, aiding in the diagnosis of this condition.

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.

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.

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.

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.

Long-Term Stability of Melanocytomas With Persistent Vascular Activity Without Malignant Transformation.

Purpose: To present 2 cases of large atypical melanocytomas that simulate melanoma. Methods: The largest risk factors for malignant transformation from melanocytoma into malignant melanoma are a combination of lesions with a thickness greater than 2 mm, visual symptoms, and tumor margin at the disc. The patients in this report were chosen because they both presented these factors with their lesions. Results: Because the lesions were properly identified as melanocytomas of the optic disc, the decision was made to monitor them closely and treat the associated vascular activity. Ultrasounds and close observations are key in differentiating these benign lesions from malignant melanomas. Conclusions: Both patients experienced long-term stability with intravitreal injections when needed for vascular activity.

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.

Circumscribed Choroidal Hemangioma Simulating Choroidal Melanoma on Advanced Ultrawide-Field Pseudocolor Retinal Imaging: A Case Series.

The purpose of this case series was to evaluate the features of circumscribed choroidal hemangioma on pseudocolor ultrawide-field (UWF) retinal images simulating choroidal melanoma and compare it to fundoscopic appearance. All four patients underwent full ophthalmological examination, including dilated fundus examination, ultrasonography, and UWF imaging (UWFI). All circumscribed choroidal hemangioma appeared clinically as orange-red choroidal lesions which were echodense with regular internal structure on ultrasonography. All lesions appeared green-grey in color on pseudocolor UWFI. Pseudocolor UWFI of circumscribed choroidal hemangioma represents distortion of true color appearance and may simulate choroidal melanoma. [Ophthalmic Surg Lasers Imaging Retina 2023;54:292-296.].

Clinical Outcomes of Combined Phacoemulsification With Intraocular Lens Placement and Microincision Vitrectomy in Adult Vitreoretinal Disease.

Purpose: To evaluate the safety and clinical outcomes of combined phacoemulsification with intraocular lens (IOL) placement and microincision vitrectomy surgery (MIVS) in adult patients with concomitant cataract and vitreoretinal disease. Methods: A consecutive series of patients with comorbid vitreoretinal disease and cataract who had combined phacoemulsification with IOL placement and MIVS was retrospectively analyzed. The main outcome measures were visual acuity (VA) and intraoperative and postoperative complications. Results: The analysis comprised 648 eyes of 611 patients. The median follow-up was 26.9 months (range, 12-60 months). The most common vitreoretinal pathology was intraocular tumor (53%). The best-corrected Snellen VA improved from 20/192 at baseline to 20/46 at the 12-month follow-up. The most frequent intraoperative complication was capsule tear (3.9%). The most common postoperative adverse events after 3 months of follow-up (mean, 24 months) were vitreous hemorrhage (3.2%) and retinal detachment (1.8%). No patient developed endophthalmitis. Conclusions: Combined phacoemulsification with IOL placement and MIVS is a safe, effective technique to manage a broad range of vitreoretinal diseases in patients with significant cataract.

Bilateral choroidal metastases from primary esophageal melanoma: a rare case.

PURPOSE: The purpose of this case report is to report a rare, bilateral, choroidal metastases from a primary esophageal melanoma. CASE REPORT: A 44-year-old white female presented to the ocular oncology clinic in February 2010 on urgent referral from her ophthalmologist for evaluation of an elevated mass in each eye. The patient presented with best-corrected visual acuities of 20/25 in both eyes. Fundus examination displayed creamy white choroidal infiltrates located in the superior temporal arcade of the right eye and temporally in the left eye. The patient was diagnosed with bilateral choroidal metastatic melanoma from known primary esophageal melanoma. External beam radiation therapy was administered and complete resolution of the lesions occurred. Final visual outcome was 20/20 in both eyes. Nine months after diagnosis of choroidal metastases, the patient died from complications related to the extensive systemic metastatic involvement. CONCLUSIONS: Choroidal metastases are the most common intraocular malignancy. However, metastatic melanoma is a rare finding and has only been reported from cutaneous and primary choroidal melanoma. Therefore, to the best of the authors' knowledge, this is the first reported case of bilateral choroidal metastasis from a primary esophageal malignant melanoma.

Erdafitinib-Induced Secondary Maculopathy.

Purpose: This work presents a case of secondary maculopathy associated with the use of erdafitinib (Balversa) for the management of bladder urothelial carcinoma with bony metastasis. Methods: A case report is presented. Results: A 58-year-old Hispanic man presented with blurry vision 3 weeks after starting erdafitinib for the management of bony metastases associated with urothelial carcinoma. A comprehensive evaluation identified multiple areas of subretinal fluid induced by erdafitinib. Throughout treatment, the ocular condition progressed, causing worsening of vision; this led to discontinuation of the drug. Discontinuation was associated with visual and anatomic function improvement. Conclusions: Fibroblast growth factor receptor (FGFR) plays a major role in maintaining mature and premature retinal pigment epithelium cells. Drugs that inhibit the FGFR pathway block the activation of the mitogen-activated protein kinase pathway, leading to synthesis of antiapoptotic proteins. Erdafitinib is associated with ocular toxicity and leads to multifocal pigment epithelial detachments associated with secondary subretinal fluid.

Atypical Event Profiling of Intra-Arterial Chemotherapy.

Purpose: Three cases of atypical events following intra-arterial chemotherapy for the treatment of retinoblastoma are presented. Methods: Case report. Results: One patient had acute orbital swelling with proptosis, another with extravasation of the chemotherapeutic agent, and the final with total ipsilateral hearing loss. Conclusions: These cases underscore the importance of maintaining close follow-up when using intra-arterial chemotherapy for treatment of retinoblastoma.

Retinoblastoma in the Presence of Persistent Fetal Vasculature.

Purpose: This work aims to report the challenging diagnosis, treatment, and follow-up of a patient with persistent fetal vasculature (PFV) and retinoblastoma (RB). Methods: A 22-month-old boy presented with unilateral RB stage VB in the right eye and PFV in both eyes. The patient was treated with transpupillary laser ablation and systemic chemotherapy. Results: Treatment resulted in complete tumor regression. Two years after the last systemic chemotherapy treatment, magnetic resonance imaging (MRI) showed increased signal intensity with progressive optic nerve enhancement, where intraneural malignancy could not be excluded. Enucleation of the right eye was performed. Histopathologic review showed no residual active malignancy in the enucleated globe. Conclusions: This case demonstrates the importance of a thorough clinical examination to establish the correct diagnosis and to rule out RB before any surgery. This case also highlights the importance of regular follow-ups after tumor regression with full a ophthalmologic examination, B-scan, and periodic MRI.

Brolucizumab: Evaluation of Compassionate Use of a Complex Anti-VEGF Therapy.

OBJECTIVE: To report a consecutive series of compassionate, off-label use of intravitreal brolucizumab as a rescue therapy for complex, non-responsive macular edema. This report delineates primary diagnosis, indications for treatment, adverse events, and visual and anatomic outcomes after intravitreal brolucizumab. METHODS: A retrospective review of a consecutive clinical case series of 110 eyes treated with intravitreal brolucizumab between January 1st and March 1st. 2020. All patients were included if they received intravitreal brolucizumab in an off-label delivery and had ongoing macular edema in the setting of prior, multiple intravitreal anti-VEGF and/or intravitreal triamcinolone acetonide. All patients had spectral domain OCT documented before, at the time of, and in serial follow-up after intravitreal brolucizumab. RESULTS: Ninety-eight of 98 patients had marked decrease in macular edema. Indications for treatment were assigned to the primary etiologic diagnosis leading to the macular edema secondary to radiation retinopathy, complex epiretinal membrane, or complex diabetic retinopathy. In this series, sdOCT central point thickness decreased by an average of 71.5 microns, subretinal fluid resolved, and visual acuity was improved in 40% (greater than two Snellen lines) and stable in 60% (within two Snellen lines). No patient experienced a severe adverse event to specifically include vitritis and/or vasculitis. CONCLUSION: In this series, brolucizumab intravitreal injection was associated with significant improvement in macular edema in each diagnostic category. No serious complications to treatment were found in this series. Brolucizumab, though associated with known intraocular inflammation and vasculitis, demonstrated marked benefit in these complex eyes previously unresponsive to aggressive intravitreal pharmacotherapy.