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Metastatic ciliary body carcinoid tumor.

A 50-year-old man with a history of systemic carcinoid had decreased right eye vision and a darkly pigmented cilio-choroidal mass. Results of ultrasonographic and fluorescein angiographic examinations were consistent with a malignant melanoma. Fine-needle aspiration biopsy of the lesion identified it as a carcinoid metastasis. The patient refused both radiation and enucleation; complete excision with a cyclochoroidectomy was performed. Histopathologic examination showed a carcinoid neoplasm covered by marked hyperplasia of the retinal pigment epithelium that produced the pigmented appearance of the lesion.

Biopsy, Needle↗

Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations.

PURPOSE: To describe the clinical spectrum of lesions involving the visual system in von Hippel-Lindau (VHL) disease, the genetic alterations, and the molecular genetic properties of retinal hemangioblastomas. METHODS: In this prospective case-series, 406 patients with VHL disease had systemic and ocular evaluations. Genetic mutations within six pathological specimens were evaluated, using microdissection and polymerase chain reaction amplification. RESULTS: Half of the 406 patients (199 families) with VHL disease had ocular involvement. Visual acuity was 20/20 or better in 170 patients (84.5%) with hemangioblastomas; six (3%) were legally blind. Thirty-three (8.2%) had unilateral enucleations. Genetic mutations were detected in all VHL patients. The patients with complete deletion were less likely to have ocular VHL compared with those patients with partial deletion, missense, and nonsense mutation (9% versus 45%) (P < .0001), suggesting the importance of the gene or areas of genes on chromosome 3 for the development of retinal hemangioblastomas. The molecular genetic assessments of the pathology specimens showed that the foamy "stromal" cells were affected with the genetic mutations. There is an up-regulation of vascular endothelial growth factor, which was expressed in the ocular lesions. CONCLUSIONS: In this series, the largest of its kind, patients with ocular lesions of VHL disease are referred mostly from physicians. The systemic genetic mutation evaluations suggest that a certain gene or groups of genes in chromosome 3p are crucial for both the development and maintenance of the retinal tumor. This is the first series to find a difference between the phenotype and genotype.

Adolescent↗

Occurrence of uveal melanoma in contact with a chorioretinal cryocoagulation scar.

A case of a uveal melanoma arising in an eye previously treated with cryocoagulation for a horseshoe retinal tear is described. In the anterior border of the tumor, a notch, clearly fitting the curve of the chorioretinal scar was observed. Possible mechanisms which may be responsible for the local arrest of the tumor extension are discussed.

Adult↗

A VEGF/JAK2/STAT5 axis may partially mediate endothelial cell tolerance to hypoxia.

Perturbation of oxygen flow occurs in disease states such as diabetic retinopathy and cancer. To maintain oxygen homoeostasis, the mammalian microvascular endothelium undergoes a dramatic reorganization to assist in bringing oxygen and nutrients to oxygen-starved tissues. This process is termed angiogenesis and is common in certain cancers with hypoxic foci and in areas of focal ischaemia in the diabetic retina. In the present study, we report on the activation of the JAK2/STAT5 pathway (where JAK stands for Janus kinase and STAT stands for signal transduction and activator of transcription) by low oxygen in microvascular endothelial cells. This activation appears to occur downstream of VEGF (vascular endothelial growth factor), a well-known proangiogenic factor, and is related to repression of proapoptotic FAS(CD95)/FASL(CD95L). These results indicate that the JAK/STAT pathway may play a pivotal role during tumour-associated or retinal angiogenesis in which endothelial cell survival during tissue hypoxia is critical for maintaining either the growth of neoplasms or the inappropriate retinal neovascularization common in diabetic retinopathy.

Animals↗

[Retinal cavernous hemangioma associated with intracerebral cavernous hemangioma in a 33-year follow-up study].

Cavernous hemangioma of the retina is congenital, mostly unilateral lesion, with autosomal dominant transmission. Usually can be easily recognized by its characteristic appearance of cluster of dark-red saccular aneurysms, partly covered by a fine glial membrane. It may be associated with similar lesions of the skin, brain and other organs. A 23-year-old patient with cavernous hemangioma of the retina, who preventively underwent argon laser therapy has been followed up in our department. During the observation no symptomatic ocular hemorrhage occurred. We presuppose that a preventive laser treatment forestalled a possible retinal and vitreous bleeding. However, in a long-term follow up we have detected slowly growing number of retinal hemangiomas. Patient's life is hardly damaged by complications of cavernous hemangioma of the brain. Because of autosomal dominant transmission all family members, with and without fundus findings, should undergo computed tomography or magnetic resonance imagining of the brain to preclude intracranial vascular anomaly.

Adult↗

Globe conserving treatment of the only eye in bilateral retinoblastoma.

AIMS: To quantify the rates of eye preservation and patient survival, local tumour relapse and recurrence, and development of new tumours in the remaining eye of children with bilateral retinoblastoma with one eye already enucleated. Also, in the same children, to describe the types of primary and secondary treatment procedures, and to define the anatomical outcome. METHODS: This is a retrospective observational case series report. The study participants consisted of 107 patients with bilateral retinoblastoma with one eye enucleated within 1 month of baseline examination and had their remaining eye treated conservatively. The main outcome measure were: primary treatment failures, new tumours, enucleation of the only eye, death, remission, and anatomical outcomes (retinal detachment, vitreous haemorrhage, and cataract). RESULTS: The median age at diagnosis was 8.4 (range 0.2-44, SD 10.1) months with a median ophthalmic follow up of 44.3 (8.1-114, SD 10.1) months. In 22 of the 107 patients (21%) the treated eye was in Reese Ellsworth groups I or II and in the remaining 85 (79%) in groups III-V at diagnosis. The primary treatment was cryotherapy in 14% (15/107) of eyes, radioactive plaque brachytherapy in 3.7% (4/107), and chemotherapy in 10% (11/107). It was lens sparing radiotherapy in 37% (40/107), whole eye radiotherapy in 29% (31/107), combined radiotherapy and chemotherapy in 2.8% (3/107), chemothermotherapy in 0.9% (1/107), and combined focal therapy in 1.8% (2/107). The primary treatment failed to achieve local tumour control during the follow up period in 37% (40/107) of eyes. In 17 eyes failure was due to inadequate control of the presenting tumour, in 16 to development of a new tumour, and in eight eyes to a combination of both. 35 (88%) of the 40 failures were managed by secondary conservative treatment and the remaining five were treated by enucleation of the only eye. There were eight (7.4%) deaths and the 3 year survival rate was 93% (100/108). Anatomical results included vitreous haemorrhage in four cases, tractional retinal detachment also in four cases, and 24 children required cataract surgery. CONCLUSIONS: Aggressive conservative treatment achieved a good rate of globe salvage without impairing survival.

Brachytherapy↗

Diagnosis and current management of retinoblastoma.

Retinoblastoma represents the prototypic model for inherited cancers. The RB1 gene was the first tumor suppressor gene to be identified. It represents the most frequent primary eye cancer in children under 15 years old, habitually occurring in infancy, even in utero, but can be observed in older children or young adults. Many other retinal lesions may also simulate retinoblastoma. The two major presenting signs are leukocoria and strabismus, but other ocular or general signs may be observed. A highly malignant tumor, retinoblastoma can nowadays be cured. The heritable form, however, carries a high risk of second nonocular tumors. Treatment in the early stages of disease holds a good prognosis for survival and salvage of visual function. In very late stages, however, the prognosis for ocular function and even survival is jeopardized.

Cell Division↗

The kidney, cancer, and the eye: current concepts.

Herein, we review the associations between the kidney, renal cancers, and the eye. Renal cancers have been reported to metastasize to the eye and the orbit. As these tumors can be confused with other amelanotic or vascular tumors, a high index of suspicion is required for early detection and management of the primary tumor. We discuss the physiology of metastases, clinical features and management of metastatic disease. A variety of ocular anomalies have been associated with renal disease. Wilms tumor, a renal tumor of childhood, can present with aniridia, which may be the first clue leading to the diagnosis of the primary tumor. Paraneoplastic syndromes are common manifestations of renal cancers and can present as retinopathies and neuro-ophthalmic disorders. Multiple cancer syndromes involve both the eye and the kidney. For example, the diagnosis of von Hippel retinal tumors can lead to a systemic evaluation and discovery of associated visceral tumors. The prognosis, screening, and counseling of such patients is discussed. Newer systemic treatments available for renal tumors, such as interferon alfa, may lead to ocular side effects including retinopathy. These patients require periodic ophthalmic examinations. This review demonstrates the essential role of the ophthalmologist, for early diagnosis and treatment that can help reduce the morbidity and mortality associated with kidney tumors and renal-associated disease.

Carcinoma, Renal Cell↗