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Combined hamartoma of the retina and retinal pigment epithelium is a rare, benign intraocular tumor. Hamartoma of the retina and retinal pigment epithelium has been described in the literature as a condition presenting with variable retinal damage, ranging from partial epiretinal involvement to complete distortion of the retinal layers and retinal pigment epithelium. We report the case of an 8-year-old girl presenting with longstanding strabismus who was diagnosed with Hamartoma of the retina and retinal pigment epithelium based on multimodal imaging assessment. We explored the particular imaging findings from studies using spectral-domain optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and fluorescein angiography.

Von Hippel-Lindau disease (VHL) is a heritable condition caused by pathogenic variants in VHL and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing efforts to collate VHL patient data do not adequately capture all VHL manifestations. We developed a comprehensive and standardized VHL database in the web-based application, REDCap, that thoroughly captures all VHL manifestation data. As an initial trial, information from 86 VHL patients from the University Health Network/Hospital for Sick Children was populated into the database. Analysis of this cohort showed missense variants occurring with the greatest frequency, with all variants localizing to the α- or β-domains of VHL. The most prevalent manifestations were central nervous system (CNS), renal, and retinal neoplasms, which were associated with frameshift variants and large deletions. We observed greater age-related penetrance for CNS hemangioblastomas with truncating variants compared to missense, while the reverse was true for pheochromocytomas. We demonstrate the utility of a comprehensive VHL database, which supports the standardized collection of clinical and genetic data specific to this patient population. Importantly, we expect that its web-based design will facilitate broader international collaboration and lead to a better understanding of VHL.

Vitreoretinal lymphoma, which most commonly is diffuse large B-cell non-Hodgkin in type, is a rare cancer with high morbidity and high mortality. Making a tissue diagnosis of vitreoretinal lymphoma is a major challenge for clinicians due to biological and technical factors. Yet, the delay in start of treatment may have vision- and life-threatening consequences, and there is considerable interest in the application of molecular assays to improve the accuracy of the diagnostic process: detection of a clonal immunoglobulin heavy-chain rearrangements in lymphoma cells by polymerase chain reaction; measurement of vitreous or aqueous interleukin-10 protein levels in ocular fluids; and identification of mutations in the myeloid differentiation primary response gene 88 in tumour cells. In this article, we review the historical development and current application of each of these molecular methods. We also discuss future opportunities for the molecular diagnosis of vitreoretinal lymphoma through next-generation sequencing technologies.

Orbital cellulitis associated with retinoblastoma is uncommon and is characterized by noninfectious inflammation of the periorbital structures. The underlying mechanism is thought to be necrosis of the intraocular tumor, leading to intraocular and periorbital inflammation. We report 2 retinoblastoma patients who presented with an orbital cellulitis-like picture and discuss clinical characteristics, histopathologic features, and treatment.

Vitreoretinal lymphoma (VRL) is an ultra-rare disease and an unusual presentation of primary central nervous system lymphoma (PCNSL) [1]. A quarter of PCNSL patients develop VRL and upto 85% of VRL...

Background Retinoblastoma, uveal and conjunctival melanomas are important malignancies within the remit of ocular oncology. Outlined are the diagnostic features and management principles, as well as advancements in the field and current challenges. Sources of data Original papers, reviews and guidelines. Areas of agreement Most eyes with retinoblastoma (International Intraocular Retinoblastoma Classification (IIRC) Group A-D) are salvaged, whereas advanced cases (Group E) remain a challenge. Despite a high rate of local tumour control in uveal melanoma, metastatic spread commonly occurs. Conjunctival melanoma is treated by complete resection, but high rates of local recurrence occur, with the possibility of systemic relapse and death. Areas of controversy Use of the IIRC in retinoblastoma, and systemic screening in melanomas. Growing points Utilization of novel treatment modalities in retinoblastoma and an increasing understanding of the genetic basis of melanomas. Areas timely for developing research Improvements in chemotherapy delivery in retinoblastoma and prognostic tests in melanomas.

A 55-year-old man with history of urothelial carcinoma of the bladder developed floaters in the right eye 4 years after initial diagnosis. Fundus examination revealed a retinal mass and large mid-vitreous and retrolental cells. Systemic evaluation was negative for metastasis. Vitreous biopsy revealed a high-grade metastatic carcinoma consistent with urothelial carcinoma., Purpose: To report a rare case of vitreo-retinal metastasis from urothelial carcinoma of the bladder. Methods: Case report. Results: A 55-year-old man with a history of bladder cancer developed atypical vitritis and a white fundus mass. Intravenous fluorescein angiography demonstrated connection between the retinal and tumor vasculature consistent with a retinal malignancy. Cytologic analysis of the vitreous sample revealed large, atypical cells with pleomorphic nuclei, mucin vacuoles, and rare mitotic figures. The cells were immunoreactive for cytokeratin markers AE1/AE3, CK7, and CK20 and the urothelial carcinoma marker GATA3. Review of the patient's initial bladder tumor revealed an anaplastic epithelial neoplasm with dyscohesive cells that appeared histologically identical to those in the vitreous biopsy. Despite external beam radiation therapy, the patient's vision declined and the eye became painful and was ultimately enucleated. Conclusion: Retinal metastasis from systemic adenocarcinoma is an extremely rare occurrence with poor prognosis for vision.

Purpose: To quantify outcomes for neonatal retinoblastoma patients treated during the pre-chemotherapy (1980–1994) and chemotherapy (1995–2018) eras. Methods: Retrospective review of retinoblastoma patients diagnosed within the first 28 days of life between 1/1/1980 and 11/30/2018. Student's t-test, Chi-square, and Fisher's exact test were performed to compare treatments and outcomes by era. Results: There were 68 patients with neonatal retinoblastoma (12% unilateral and 88% bilateral). According to era (pre-chemotherapy vs. chemotherapy), the number of treated patients was 26 (38%) vs. 42 (62%). Primary treatment was external beam radiotherapy (50% vs. 1%, P < 0.001), plaque radiotherapy (17% vs. 0%, P < 0.001), focal treatment (transpupillary thermotherapy or cryotherapy) only (21% vs. 14%, P = 0.33), intravenous chemotherapy (0% vs. 81%, P < 0.001), enucleation (10% vs. 4%, P = 0.26), or exenteration (2% vs. 0%, P = 0.37). Outcomes included tumor control (79% vs. 94%, P = 0.02), globe salvage (75% vs. 91%, P = 0.02), final gross visual acuity for salvaged eyes 20/200 or better (66% vs. 89%, P < 0.01), and death (19% vs. 0%, P < 0.01). Conclusion: Chemotherapy advancements for neonatal retinoblastoma have improved tumor control, globe salvage, visual acuity, and patient survival.

Retinoblastoma (Rb), an intraocular malignancy of childhood, is most often (98%) caused by a mutation in the RB1 retinoblastoma tumor suppressor gene contained in the long arm of chromosome 13. In ...

Second cancers in survivors of hereditary retinoblastoma occur much more commonly than in the general population. This can be attributed both to the germline mutation of the RB gene and chemoradiation used for treatment of this paediatric cancer. Medulloepithelioma is an uncommon tumor of neuroectodermal origin, seen largely in the paediatric population and rarely reported in adults. Though the incidence of second malignancies is common in retinoblastoma, medulloepithelioma as a second malignancy in retinoblastoma survivors is rare, with only one case reported so far. Herein, we present a case of a 29-year-old patient presenting with medulloepithelioma of the right orbit, arising in the radiation field of previously treated retinoblastoma. This case was also peculiar in that though the origin of tumor was in the eyeball it had a very aggressive clinical course.

To identify the clinical features predictive of any optic nerve infiltration and postlaminar optic nerve infiltration by retinoblastoma on histopathology and to report the outcome (metastasis and death) in these patients.Retrospective study.Of the 403 patients who underwent primary enucleation for retinoblastoma, 196 patients had optic nerve tumor infiltration (Group 1) and 207 patients had no evidence of optic nerve tumor infiltration (Group 2). Group 1 included patients with prelaminar (n = 47; 24%), laminar (n = 74; 38%), and postlaminar tumor infiltration with or without involving optic nerve transection (n = 74; 38%). Comparing Group 1 and Group 2, the patients in Group 1 had prolonged duration of symptoms (6 months) (16% vs. 8%; P = 0.02) and were associated with no vision at presentation (23% vs. 10%; P = 0.01), higher rates of secondary glaucoma (42% vs. 12%; P0.0001), iris neovascularization (39% vs. 23%; P0.001), and larger tumors (mean tumor thickness, 12.8 mm vs. 12 mm; P = 0.0001). There was a higher prevalence of metastasis in Group 1 than in Group 2 (4% vs. 0%; P = 0.006). On multivariate analysis, clinical features predictive of any optic nerve tumor infiltration secondary glaucoma (hazard ratio = 5.38; P0.001) and those predictive of postlaminar optic nerve tumor infiltration included iris neovascularization (hazard ratio = 2.66; P = 0.001) and secondary glaucoma (hazard ratio = 3.13; P0.001).In this study, clinical features predictive of any optic nerve tumor infiltration included secondary glaucoma and those predictive of postlaminar optic nerve tumor infiltration included iris neovascularization and secondary glaucoma. Despite adjuvant treatment in those with postlaminar optic nerve tumor infiltration, metastasis occurred in 8% of patients.

Retinoblastoma is the most common ocular malignancy in children, and is initiated by mutation of the RB1 gene. The tumor may be unilateral or bilateral and can be inherited. Overall survival, eye salvage, and preservation of vision are largely dependent on the stage of disease at presentation. Despite a recently enhanced understanding of the etiology of retinoblastoma, the mortality associated with it remains high worldwide. This may relate to a continuing lack of awareness of the lesion by laypersons, and unavailability of modern treatment facilities. Adverse outcomes are also caused by the occurrence of secondary malignancies after treatment of retinoblastoma in childhood. Early diagnosis, multidisciplinary treatment, and genetic counseling are all priorities in the management of this tumor.

To report the management and clinical outcome of children with unsuspected retinoblastoma who underwent trabeculectomy surgery.Three children who presented to us after trabeculectomy surgery were diagnosed with retinoblastoma. They were treated with enucleation of the affected eye. Histopathology of the enucleated eyeball showed tumor infiltration into the iris and the ciliary body in two cases, and massive choroidal invasion in the third case. Six cycles of adjuvant systemic chemotherapy with carboplatin, vincristine and etoposide were given.The follow-up ranged from 18-48 months. At last follow-up, all children were alive and well, with no local recurrence or systemic metastasis.The management of retinoblastoma with operated trabeculectomy is challenging due to risk of tumor dissemination. Timely intervention can result in good clinical outcome. Nevertheless, a meticulous posterior segment evaluation to rule out retinoblastoma in children presenting with buphthalmos or secondary glaucoma should always be considered.

Retinoblastoma is a malignancy of the retina that usually presents before the age of 5 years. Sporadic retinoblastoma is most often unilateral and with no hereditary influence, whereas familial retinoblastoma presents unilaterally or bilaterally in conjunction with genetic inheritance. Several treatments have been attempted with the goals of saving the child's life, salvaging the eye, and preserving vision. Alternative methods including external beam radiation, systemic chemotherapy and focal therapies have been shown to be effective but carry a risk of enucleation and other complications proportional to the severity of the tumor. Selective intra-arterial chemotherapy for retinoblastoma began in 1988 in Japan and has emerged in the last 7 years in the United States as a feasible, effective and minimally invasive treatment option. We review the retinoblastoma treatment literature focusing on intra-arterial chemotherapy.

This case series highlights the novel use of intravitreal melphalan for nonvitreous retinoblastoma. It assesses the efficacy and toxicity of intravitreal melphalan for nonvitreous retinoblastoma.This observational small case series investigates three patients treated with intravitreal melphalan for nonvitreous retinoblastoma that was refractory to multiple-course ophthalmic artery chemosurgery. Patients' demographics, response to treatment, and toxicity of treatment as clinically evaluated are measured by electroretinogram.Three eyes of three patients received a median of 7 weekly intravitreal melphalan injections (30 μg/0.07 cc) for persistent retinal or subretinal tumors refractory to treatment with multiple-course ophthalmic artery chemosurgery.Eyes remain tumor free at a median of 14-month follow-up. One eye was enucleated because of a vitreous hemorrhage that obscured fundus details. One eye had extinguished electroretinogram recordings before injections and two eyes had a decrease in electroretinogram responses over the intravitreal treatment course. The eye with subretinal seeding demonstrated marked retinopathy by ophthalmoscopy and fluorescein angiography and one eye was enucleated because of the development of a vitreous hemorrhage.This small case series highlights that nonvitreous disease that is, refractory or persistent despite previous ophthalmic artery chemosurgery can regress with intravitreal melphalan. However, this treatment may result in retinal toxicity.

Retinoblastoma (RB) is the most common primary malignant intraocular tumor of childhood presenting usually before 5 years of age. RB in adults older than 20 years is extremely rare. A literature search using PubMed/PubMed Central, Scopus, Google Scholar, EMBASE, and Cochrane databases revealed only 45 cases till date. Over the past decade, there has been a significant increase in the number of such reports, indicating heightened level of suspicion among ophthalmologists. Compared to its pediatric counterpart, adult onset RB poses unique challenges in diagnosis and treatment. This article summarizes available literature on adult onset RB and its clinical and pathologic profile, genetics, association with retinocytoma, diagnostics, treatment, and outcomes.

Retinoblastoma is a malignant retinal tumor that affects young children. Mutations in the RB1 gene cause retinoblastoma. Mutations in both RB1 alleles within the precursor retinal cell are essential, with one mutation that may be germline or somatic and the second one that is always somatic. Identification of the RB1 germline status of a patient allows differentiation between sporadic and heritable retinoblastoma variants. Application of this knowledge is crucial for assessing short-term (risk of additional tumors in the same eye and other eye) and long-term (risk of nonocular malignant tumors) prognosis and offering cost-effective surveillance strategies. Genetic testing and genetic counseling are therefore essential components of care for all children diagnosed with retinoblastoma. The American Joint Committee on Cancer has acknowledged the importance of detecting this heritable trait and has introduced the letter "H" to denote a heritable trait of all cancers, starting with retinoblastoma (in publication). In this article, we discuss the clinically relevant aspects of genetic testing and genetic counseling for a child with retinoblastoma.

Retinoblastoma (RB) is the most common malignant intraocular tumor in children. In the last decade, basic research has led to a better understanding of events after two hits in RB susceptibility gene (RB1), molecular mechanism of tumor growth, the cell of origin of RB, etc. This would pave way to identify biomarkers and molecular targeted therapy for better treatment option in the future. Furthermore, improvement in molecular techniques has led to enhanced diagnostic methods for early diagnosis, genetic counseling, and prevention of the disease. This review will help to understand the essence of basic research work conducted in recent times and its implication in the management of RB in the future.

Purpose: To describe the clinical features, treatment, and outcome of retinoblastoma in adults. Methods: Retrospective case series. Results: The mean age at initial presentation of retinoblastoma was 30 years (median, 26 years; range, 22–48 years). There were four males and four females, and all manifested unilateral retinoblastoma. The mean duration of symptoms was 22 months (median, 12 months; range, 1–100 months). Six patients had intraocular retinoblastoma, and 2 had secondary orbital involvement. The eyes with intraocular retinoblastoma were classified according to the International Classification of Retinoblastoma as Group D (n = 3) or Group E (n = 3). The primary treatment for intraocular retinoblastoma (n = 6) included systemic chemotherapy (n = 1), external beam radiotherapy (n = 2), and enucleation (n = 3). Secondary treatment for tumor recurrence included enucleation (n = 2), and combination of intraarterial chemotherapy, intravitreal chemotherapy, and plaque radiotherapy (n = 1). The eyes with orbital extension of retinoblastoma were classified according to the International Retinoblastoma Staging System as Stage 3a (n = 2). The primary treatment for those with orbital extension of retinoblastoma included multimodality treatment (combination of systemic chemotherapy, orbital exenteration, and external beam radiotherapy). Systemic metastasis and related death occurred in one case. Conclusion: Retinoblastoma in adults is uncommon. Active tumor in this age group is usually advanced, necessitating enucleation and/or orbital exenteration.

Retinoblastoma, the most common pediatric eye cancer, has an excellent prognosis regarding life salvage if the disease is diagnosed and managed well while still intraocular.1 Extraocular disease, e...

Patient: Male, 42-year-old Final Diagnosis: Ocular albinism Symptoms: Vision loss Medication: — Clinical Procedure: — Specialty: Ophthalmology Objective: Rare disease Background: Retinal vasoproliferative tumor (VPT) is a type of ocular vascular tumor that commonly occurs idiopathically and can be associated with secondary ocular diseases. Ocular albinism is an X-linked inherited disease and distinguished from oculocutaneous albinism by less hair and skin involvement. Case Report: A 42-year-old man with ocular albinism and moderate myopia presented with a history of insidious decrease in vision in both eyes over a period of months. On examination, the horizontal pendular nystagmus was present and diffuse iris transillumination defects were observed bilaterally. A fundus examination revealed a de-pigmented fundus with visible choroidal vessels, foveal hypoplasia, and a unilateral, elevated, vascular lesion in the superotemporal aspect of the retinal periphery. Optical coherence tomography of the lesion confirmed the retinal location and fluorescein fundus angiography indicated its vascular nature. B-scan ultrasonography was performed to measure the dimensions of the lesion. Conclusions: Rare retinal VPT has been reported with systemic and ocular associations, but it has never been reported in the literature in association with ocular albinism. Multiple treatment modalities have been described for the tumor, but observation can be considered in the absence of secondary consequences of the VPT. Retinal VPT should be included in the differential diagnosis of any retinal vascular abnormalities in patients with ocular albinism.

Retinal cavernous hemangiomas are benign vascular anomalies that are typically unilateral and located outside of the macula. Fluorescein angiography findings include an early slow-filling, non-leaking lesion with late intermixed lobules of hyperfluorescence and hypofluoresence secondary to plasma and erythrocyte sedimentation. We present a novel case of unilateral macular cavernous hemangioma with bilateral peripheral vascular anomalies and nonperfusion. This may represent a phenotypic variation of hemangiomas that, in conjunction with recent histopathologic and genetic findings, may aid in future therapies for a disease that has been traditionally observed due to slow progression. [ Ophthalmic Surg Lasers Imaging Retina . 2015;46:764–767.]

Vascular tumors of the retina and choroid can be seen occasionally. In the following article, the key clinical and diagnostic features of the major retinal and choroidal vascular tumors, their systemic associations, and the literature pertaining to the most currently available treatment strategies are reviewed.

Orbital extension is a major cause of death in children with retinoblastoma in the developing countries. Delayed detection and inappropriate management contribute to poor outcome. Conventional treatment including primary orbital exenteration or chemotherapy or radiotherapy alone result in mortality as high as 70%. The recent understanding on the role of sequential multimodal therapy with a combination of high-dose chemotherapy, followed by appropriate surgery, radiotherapy, and additional adjuvant chemotherapy has helped dramatically improve life salvage.

A 13-month-old female child was brought to our tertiary eye hospital with a history of a rapidly enlarging mass in the right eye for 4 months. Her medical history was suggestive of leukocoria in the right eye, noted 6 months ago, for which medical attention was sought elsewhere. At that time, a diagnosis of group E retinoblastoma in the right eye was made. The left eye was normal. The caretakers were explained about …

Purpose To report a case of clinically invisible retinoblastoma recurrence detected only on spectral-domain optical coherence tomography. Methods Case report. Results A 3-week-old girl with bilateral familial retinoblastoma underwent six cycles of intravenous chemoreduction. Both eyes showed tumor regression. After 6 cycles of chemoreduction, the tumor in the right eye appeared with clinical regression; however, by spectral-domain optical coherence tomography, there was 40 μm increase in thickness and 290 μm increase in basal diameter. Due to tumor proximity of 1.85 mm to the foveola, the recurrence was treated via intraarterial chemotherapy with two cycles of Melphalan 3 mg. After treatment, spectral-domain optical coherence tomography showed complete regression of the recurrent tumor to a flat scar with intact fovea. Conclusion Precise submillimeter imaging with spectral-domain optical coherence tomography for monitoring retinoblastoma is important and can allow detection of early recurrences that might be clinically invisible otherwise, as well as surveillance of the fovea.

Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found to harbor a nonsense mutation of the CCM1 gene.

Retinal cavernous hemangioma is a rare, benign, retinal tumor characterized by angiomatous proliferation of vessels within the inner retina or the optic disc. 1 Here we report a case of retinal cavernous hemangioma on the margin of the optic disc in the right eye of a 61-year-old asymptomatic female. The lesion was studied with multimodal imaging which included structural optical coherence tomography, fluorescein angiography, blue fundus auto-fluorescence, optical coherence tomography angiography (OCTA) (DRI OCT Triton; Topcon, Tokyo, Japan) and visual field examination. Blood circulation inside retinal cavernous hemangioma lesion is typically low-stagnant. 2 However, OCTA demonstrated blood flow inside the lesion, illustrating its vascular circulation. 3 Visual field was within the normal limits, except from a slight enlargement of the blind spot. [ Ophthalmic Surg Lasers Imaging Retina . 2017;48:684–685.]

The management of retinoblastoma is complex and involves strategically chosen methods of enucleation, radiotherapy, chemotherapy, laser photocoagulation, thermotherapy, and cryotherapy. Chemotherapy has become the most common eye-sparing modality. There are four routes of delivery of chemotherapy for retinoblastoma, including intravenous, intra-arterial, periocular, and intravitreal techniques. The purpose of this review is to discuss the current rationale for each method and the anticipated outcomes.The diagnosis of retinoblastoma should be clinically established prior to embarking on a chemotherapy protocol. There are over 25 conditions that can closely simulate retinoblastoma in a young child. In addition, enucleation is an acceptable method for management, particularly with advanced retinoblastoma. Intravenous chemotherapy is generally used for germline mutation (bilateral, familial) retinoblastoma with excellent tumor control for groups A, B, and C and intermediate control for group D eyes. Intra-arterial chemotherapy is used as primary therapy in selected cases for nongermline mutation (unilateral) retinoblastoma with excellent control, and also used as secondary therapy for recurrent solid retinoblastoma, subretinal seeds, and vitreous seeds. Periocular chemotherapy is employed to boost local chemotherapy dose in advanced bilateral groups D and E eyes or for localized recurrences. Intravitreal chemotherapy is used for recurrent vitreous seeds from retinoblastoma. Patients at high risk for metastases should receive intravenous chemotherapy.Chemotherapy is effective for retinoblastoma and the targeted treatment route depends on the clinical features and anticipated outcomes.

To delineate and discuss a not yet described possible ocular complication of selective intra-arterial chemotherapy (SIAC) for treatment of retinoblastoma.A 23-month-old girl with a large unilateral retinoblastoma was treated with repeated SIAC using 5 mg melphalan between July 2010 and January 2012. Clinical course of tumor and further ocular changes after therapy and histopathologic findings are described.In total, 5 SIAC were performed over a time period of 18 months. After the last SIAC, diffuse dense cataract prevented further funduscopy. In addition, anterior chamber seeding was obvious, leading to the decision to enucleate the eye. Histopathologically, nearly complete regression of the main tumor mass with prominent calcifications, but vital tumor seeding in the vitreous, on the lens surface, on the ciliary body, and in the anterior chamber, was observed. Peculiar vacuolation of the lens epithelial cells, liquefaction of the subepithelial lens fibers, and diffuse small vacuoles within the lens were striking.Repeated SIAC with melphalan may induce cataract formation, possibly as a toxic effect of the chemotherapeutic to the lens, maybe combined with radiation exposure during fluoroscopy. This ocular complication should be taken into consideration as a limitation of the number of feasible repeated treatments.

Purpose To use micro–ribonucleic acid (microRNA) profiles in the vitreous for differential diagnosis of primary vitreoretinal lymphoma and uveitis. Design Prospective cross-sectional study. Methods This prospective cross-sectional study included 17 diffuse large B-cell primary vitreoretinal lymphoma and 12 uveitis patients. The supernatant of ocular fluid was subjected to total RNA extraction, followed by complementary deoxyribonucleic acid (cDNA) synthesis. Selected samples (primary vitreoretinal lymphoma, n = 3; uveitis, n = 3) were arrayed by a real-time polymerase chain reaction (RT-PCR)-based microRNA panel that detects 168 human mature microRNAs. The markers promising in distinct levels between uveitis and lymphoma were further tested for in all the other 23 samples by individual RT-PCR analysis. Results Of 168 microRNAs in the array, 66.5% were detectable with consistent higher microRNA-484, microRNA-197, and microRNA-132 in the primary vitreoretinal lymphoma vitreous and higher microRNA-155, microRNA-200c, and microRNA-22* in the uveitic ocular fluids. The results were normalized by different combinations of 7 control microRNAs (microRNA-103, microRNA-191, microRNA-42-5p, microRNA-16, microRNA-425, microRNA-93, and microRNA-451). After optimization, normalization against microRNA-16 was equally as reliable as the average of the 7 control microRNAs. Individual assays of all samples supported the pattern yielded from the array analysis. But only microRNA-155 was significantly higher in the uveitic vitreous compared to that with lymphoma. Conclusions Mature microRNAs are detectable in ocular fluid samples. Primary vitreoretinal B-cell lymphoma and uveitis might be characterized by distinct microRNA signatures. Quantification of ocular microRNA-155 might be helpful in the differential diagnosis of these 2 diseases.

Retinal hemangioblastomas are highly vascular benign tumors that can be encountered either sporadically or within the von Hippel-Lindau (VHL) syndrome. We report a case of a VHL patient with retinal hemangioblastoma who underwent PET/CT scans using F-FDG and Ga-DOTATATE. The tumor showed low-level F-FDG and increased Ga-DOTATATE activity, suggesting cell-surface overexpression of somatostatin receptors. The presented case indicates the clinical applications of somatostatin receptor imaging with Ga-DOTA-conjugated peptides in detection and follow-up of VHL manifestations, screening of asymptomatic gene carriers, and in diagnosis of sporadic retinal hemangioblastomas, which may have similar features on MRI with other retinal tumors.