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Gaze-induced amaurosis from central retinal artery compression.

Color Doppler imaging was used to evaluate a patient with gaze-induced amaurosis caused by an intraconal orbital mass. The time-velocity waveform demonstrated abnormally high vascular resistance in the central retinal artery of the affected eye in the primary position. Abduction of the affected eye resulted in transient visual loss with an unreactive pupil. This same maneuver during color Doppler imaging resulted in a dramatic reduction of blood flow in the central retinal artery. Two months after surgical excision of the mass, the gaze-evoked amaurosis was no longer present, and color Doppler imaging demonstrated normal blood flow in the central retinal artery. This suggests that impaired retinal and optic nerve blood flow are responsible for gaze-induced amaurosis from compressive orbital lesions.

Adolescent↗

Primary intraocular lymphoma with a low interleukin 10 to interleukin 6 ratio and heterogeneous IgH gene rearrangement.

Primary intraocular lymphoma is almost always a central nervous system B-cell non-Hodgkin lymphoma. Primary intraocular lymphoma is commonly diagnosed by demonstrating lymphoma cells in the vitreous or cerebrospinal fluid. An interleukin (IL) 10 to IL-6 ratio greater than 1.0 in these fluids and the detection of immunoglobulin gene rearrangement are useful adjuncts in the diagnosis of primary intraocular lymphoma. We report a case of primary intraocular lymphoma diagnosed by chorioretinal biopsy in which no malignant cells were identified in the vitreous and in which the IL-10 to IL-6 ratio was less than 1.0. The detection of IgH gene rearrangement heterogeneity in the tumor cells by polymerase chain reaction, a high tumor mitotic figure rate, and the rapid onset of multiple brain lesions suggest an aggressive malignant neoplasm.

Adult↗

[A case of metastatic carcinoma to the retina].

The authors report a case of metastatic carcinoma to the retina. The patient was a 61-year-old man who had an operation for a well-differentiated adenocarcinoma of the rectum. Ophthalmoscopic examination disclosed a single, white, elevated mass lesion surrounded by serous retinal detachment located in the upper part of the macula of the right eye. A few retinal hemorrhages existed around the lesion. Fluorescein angiography revealed partially obscured retinal vessels due to compression by the tumor and arteriovenous anastomosis. Postmortem pathologic examination confirmed metastases to the brain, lung and retina. Microscopic examination showed a retinal lesion and tumor cells in the right eye. Tumor cells, similar to the carcinoma of the rectum, were present only in the neurosensory retina and did not invade the pigmented epithelium or choroid.

Adenocarcinoma↗

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2.

Individuals affected with the neurofibromatosis 2 (NF2) cancer predisposition syndrome develop specific ocular lesions. To determine whether these lesions result from altered NF2 gene expression, microdissection and PCR were used to investigate 40 ocular lesions from seven eyes of four NF2 patients for LOH, with markers that flank the NF2 gene on chromosome 22q. NF2 protein (merlin) expression was also evaluated in these lesions, using immunohistochemistry. Retinal hamartoma was observed in all seven eyes, including one with combined pigment epithelial and retinal hamartoma (CPERH). Retinal tufts were present in four eyes (three patients), retinal dysplasia in two eyes (two patients), optic nerve neurofibroma in one eye, iris naevoid hyperplasia in two eyes (two patients) and pseudophakia in all eyes. Markers were informative in three patients (six eyes from three unrelated families). One patient was non-informative due to prolonged decalcification. All retinal and optic nerve, but not iris lesions, demonstrated consistent LOH for the NF2 gene. Merlin was not expressed in the retina, optic nerve, or iris lesions. These results suggest that inactivation of the NF2 gene is associated with the formation of a variety of retinal and optic nerve lesions in NF2 patients.

Adolescent↗

p53 gene gets altered by various mechanisms: studies in childhood sarcomas and retinoblastoma.

BACKGROUND: Somatic and constitutional mutation screening of p53 in childhood sarcomas and retinoblastoma was investigated by a multitechnical approach to evaluate its role in the development/progression by somatic mutation events and/or genetic predisposition. MATERIAL/METHODS: The studies were carried out on a cohort of 100 sarcoma cases, i.e. Ewing's sarcoma (n=44), osteosarcoma (n=36), and rhabdomyosarcoma (n= 20), and on 50 retinoblastoma (Rb) cases. RESULTS: Constitutional allelic deletion was found by FISH in 4% of sarcoma cases. Overall, 20% of sarcoma tumors showed p53 rearrangement by PCR/SSCP and Southern blot. Allelic deletion of p53 was detected in 78% of sarcoma and 55% of Rb tumors. p53 protein expression was detected by immunohistochemistry in 20% of sarcoma tumors. CONCLUSIONS: This study for the first time provided evidence of p53 alteration through allelic deletion that are common primary somatic mutation events which occur irrespective of grade and stage and are hence probably associated with an early phase of tumorigenesis and/or tumor progression. The studies also explored the occurrence of de novo constitutional deletion of p53 in sporadic childhood sarcomas. This study in retinoblastoma provided evidence for the synergistic role of RB1 and p53, probably essential for the full-blown development of malignancy.

Adolescent↗

Changing appearance of retinal arteriovenous malformation.

Retinal arteriovenous malformations (racemose angiomas) are usually described as non-changing congenital vascular anomalies. The authors describe prominent retinal vascular changes that occurred in the fundus of a patient with a complex retinal arteriovenous malformation as part of the Wyburn-Mason syndrome during a follow-up period of 17 years.

Adolescent↗

Retinal toxicity after high-dose cisplatin therapy.

Because of increasing complaints of visual dysfunction, 13 patients with refractory or recently diagnosed ovarian carcinoma were evaluated for possible cisplatin-induced ophthalmologic toxicity. All patients had received high-dose cisplatin (200 mg/m2 in five divided daily doses) over two to four cycles. Eight patients (62%) developed symptoms of blurred vision and three (23%) also developed altered color perception. Retinal toxicity in the form of cone dysfunction was documented by electroretinography and color vision testing in 11 patients. Three patients were studied prospectively. Two patients who developed cone dysfunction had normal ophthalmologic exams before the initiation of chemotherapy or after one cycle of cisplatin, suggesting a causal relationship between cisplatin therapy and subsequent retinal abnormalities. Though visual acuity improved off therapy, color vision abnormalities persisted as long as 16 months beyond therapy.

Adult↗

Central retinal vascular obstruction secondary to melanocytoma of the optic disc.

A 35-year-old black man developed abrupt visual loss in his left eye. Ophthalmic examination revealed a deeply pigmented mass obscuring the optic disc, hemorrhagic retinopathy, and signs of central retinal vascular obstruction. Fluorescein angiography disclosed sluggish filling of the retinal blood vessels; ultrasonography disclosed an acoustically solid mass in the optic nerve head. Cytopathologic findings of a fine needle aspiration biopsy specimen demonstrated probable benign tumor cells, but melanoma could not be excluded. Histopathologic findings in the enucleated eye revealed a large, necrotic melanocytoma of the optic disc and hemorrhagic necrosis of the retina secondary to obstruction of the central retinal artery and vein. Melanocytoma of the optic nerve can undergo spontaneous necrosis and induce central retinal vascular obstruction. Abrupt visual loss in a patient with a melanocytoma does not necessarily imply malignant transformation.

Adult↗

Ocular manifestations of leukemia. A review.

Ophthalmologists are familiar with the commonly observed leukemic retinopathy and orbital infiltration in patients with both acute and chronic leukemia. With the advent of more successful and aggressive chemotherapeutic regimens and more sophisticated radiation therapy, the eye is not uncommonly involved in patients who are in either meningeal or hematological relapse. In rare instances, ophthalmologic involvement may be the only manifestation of recurrence of the leukemic process. In addition, retinal microaneurysms, capillary closure, and neovascularization have been documented in individuals with chronic leukemia. This paper will review leukemic retinopathy and leukemic infiltration of the orbit. In addition, a discussion of the frequency and pathogenesis of the retinal vascular abnormalities will be presented. The clinical picture and treatment of optic nerve, choroid and iris infiltration will be discussed. Unusual ocular manifestations as the presenting sign of leukemia will also be detailed.

Aneurysm↗

Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival.

OBJECTIVE: To correlate 3 common presenting signs of retinoblastoma with patient and ocular survival and to assess the efficacy of current pediatric screening practices for retinoblastoma. METHODS: A retrospective study was conducted of 1831 retinoblastoma patients from our center (1914-June 2000). Patient survival (excluding deaths from other primary neoplasms) and ocular survival (presenting eyes) rates were calculated and analyzed using the Kaplan-Meier method. RESULTS: Leukocoria correlated with excellent patient survival (>86%, 5 years) but poor ocular survival in unilateral (4%, 5 years) and bilateral patients (29%, 5 years). A total of 308 (19%) of 1654 patients presented with strabismus: patient survival was excellent (90%, 5 years), and ocular survival was poor (17%, 5 years) yet better than leukocoria. Patients who had a family history of retinoblastoma and were clinically screened for retinal tumors from birth were diagnosed younger (8 months of age) and earlier (Reese Ellsworth group 1 = 26 [58%] of 45) and had better ocular survival than nonscreened patients with a family history. More patients were initially detected by family/friends (1315 [80%] of 1632) than pediatricians (123 [8%] of 1632) or ophthalmologists (156 [10%] of 1632). CONCLUSION: Most US children whose retinoblastoma is diagnosed initially present with leukocoria detected by a parent, despite routine pediatric screening for leukocoria via the red reflex test. Initial disease detection at the point of leukocoria or strabismus correlated with high patient survival rates and poor ocular survival rates for the presenting eye. Saving eyes and vision requires disease recognition before leukocoria, as demonstrated by the better ocular salvage rate among patients who had a positive family history and received clinical surveillance via early, routine dilated funduscopic examinations by an ophthalmologist.

Humans↗

[Survival and clinical features of retinoblastoma].

INTRODUCTION: Retinoblastoma (RB) is the most frequent intraocular tumor in the pediatric age group, representing 3 % of all childhood neoplasms. In Mexico, the annual incidence varies according to the geographical area studied, ranging from 4-24 cases/million in patients younger than 15 years. Ninety-five percent of cases occur in infants and pre-school children. PATIENTS AND METHOD: An observational, retrospective, descriptive, cross-sectional study of all children with RB admitted to the Oncology Department of the Pediatric Hospital of the National Medical Center in a 10-year period was performed. RESULTS: Fifty-six patients were included. The median age was 24 months. Forty-two children presented unilateral RB. Symptoms at diagnosis were leukokoria, strabismus and reduced visual sharpness. Distribution according to Prats' classification was the following: stage I, 5 patients; stage II, 32; stage III, 14; stage IV, 5. Histological analysis revealed 24 patients with poorly differentiated RB, 16 with well-differentiated RB, 13 with moderately differentiated RB and 7 with undifferentiated RB. In eight patients histological type was not identified. In 12 of the 56 patients cytogenetic and molecular studies were performed. All patients underwent surgery. Patients in the early stages were treated with chemotherapy. A total of 26.7 % of the group presented relapse. The disease-free survival at 10 years was 87.5 %. CONCLUSIONS: As with other childhood neoplasms, early diagnosis and multidisciplinary management of RB has improved prognosis and survival. The symptoms, treatment and survival reported in this pediatric cohort are similar to those of other published series.

Child↗

[Diagnosis in diseases of the eye and orbit. Indications and value of ultrasonic diagnosis and radio computer tomography].

The principles of diagnostic ultrasound and computed X-ray tomography are briefly described. The informations to be expected can be derived. First, the clinical use in determination of size and localization of the bulbus is discussed. This proved helpful in follow-up studies of buphthalmos, localization of intraocular foreign bodies and differentiation of pseudo-protrusion and protrusion (ultrasound exophthalmometry). The differentiation and localization of intraocular disorders (e.g. retinal detachment, intraocular tumors, vitreous hemorrhages, aqueous cysts) is facilitated. In space-occupying orbital disorders both methods complement but cannot replace each other. Therefore it appears that further development of ultrasonic diagnostic techniques should be promoted to reach at least the standards which are nowadays already achieved in computed X-ray tomography.

Cysts↗

Retinal vascular changes in retrograde optic atrophy.

Five patients with unilateral optic atrophy of extraocular origin had a normal retinal vasculature. Clinical examination of the patients included color fundus photographs and fluorescein angiography. After comparing the blood vessels in the blind eye with those in the normal fellow eye, we concluded that vascular attenuation is neither invariably associated with optic atrophy, nor solely caused by decreased local oxygen demand in the retina.

Adult↗

Retinal nerve fiber layer loss documented by Stratus OCT in patients with pituitary adenoma: case report.

PURPOSE: To report abnormalities of retinal nerve fiber layer (RNFL) thickness using optical coherence tomography (Stratus OCT) in patients with pituitary adenoma. METHODS: Two patients with long-standing bitemporal visual field defects and optic nerve band atrophy were submitted to optical coherence tomography examination (Stratus OCT). RESULTS: Both patients with band atrophy revealed diffuse loss of the retinal nerve fiber layer on Stratus OCT, with severe reduction in the nasal and temporal areas of the optic disc. Retinal nerve fiber layer loss correlated well with visual field loss and with previous histological studies of band atrophy of the optic nerve. CONCLUSIONS: Stratus optical coherence tomography can provide useful information in the diagnosis of band atrophy from chiasmal lesions such as pituitary adenomas.

Adenoma↗

Two cases of orbital lymphangioma associated with vascular abnormalities of the retina and iris.

PURPOSE: To report 2 patients with combined intraocular and orbital vascular abnormalities. DESIGN: Two interventional case reports. MAIN OUTCOME MEASURES: Clinical and pathologic findings. INTERVENTION/TESTING: Orbitotomy, fluorescein angiography, magnetic resonance imaging, and radiation therapy. RESULTS: Two patients presented with vision loss, intermittent proptosis, and cosmetic deformity. These patients had orbital lymphangioma, ipsilateral retinal and iris vascular malformations, and smaller corneal diameter on the affected side. CONCLUSIONS: The coexistence of these diverse vascular anomalies supports the established hypothesis of pluripotential orbital vascular anlagen. Disruptive influences of various types during embryogenesis or development may produce a variety of congenital orbital and intraocular vascular malformations.

Adult↗

Iatrogenic intraocular injection of depot corticosteroid and its surgical removal using the pars plana approach.

A four-year-old girl, while undergoing a repeat excisional biopsy for a progressive orbital hemangioma, sustained an accidental intraocular injection of methylprednisolone acetate (Depo-Medrol) resulting in a mass of intravitreal and subretinal depot material as well as a retinal tear, retinal detachment, and rapid cataract formation. Pars plana lensectomy, vitrectomy, xenon arc endophotocoagulation and air fluid-gas exchange techniques were used to restore the ocular tissues for visual functions in the affected eye and to save the globe from the devastating toxic effects of the vehicles in the depot corticosteroid preparation.

Biopsy↗

Retinoblastomas in Ibadan Nigeria: II--Clinicopathologic features.

Retinoblastomas are primary malignant intraocular neoplasms of childhood displaying photoreceptor differentiation. The present study reviews clinicopathological features of these neoplasms in Ibadan, Nigeria. Clinical, surgical pathology, and histological material of 44 histologically verified cases of retinoblastoma indexed in the Cancer Registry, University of Ibadan were analyzed. Retinoblastomas accounted for 1.1% of all malignant neoplasms and were equally frequent in male and female children. The mean age of our patients at the time of diagnosis was 32.3 months, which exceeds a corresponding age of 16-21.5 months recorded among Caucasian children. Leukocoria was the most common clinical manifestation. Eighteen percent of our patients had bilateral neoplasms. These patients were significantly younger than those with unilateral retinoblastomas. Flexner-Wintersteiner rosettes occurred in 61% and optic nerve involvement in 78% of the cases and the sites of predilection were regional lymph nodes, scalp, jaw, brain, skull, long bones, and gum.

Age Distribution↗