Magnetic resonance imaging for tumor restaging after chemotherapy in retinoblastoma with optic nerve invasion

Purpose: Extraocular retinoblastoma with optic nerve invasion is treated by a multimodal protocol consisting of neoadjuvant chemotherapy, enucleation, and adjuvant therapy. This study was conducted to evaluate the performance of magnetic resonance imaging (MRI) used for tumor restaging in these children after systemic chemotherapy administration.

Methods: Contrast-enhanced MRI scan of orbits and brain was performed at diagnosis and patients were treated with neoadjuvant chemotherapy. After chemotherapy, MRI scan was repeated for tumor restaging and residual post-laminar thickening and/or enhancement of the affected optic nerve, if any, was recorded. MRI findings were correlated with histopathology in enucleated specimens. The main outcome measures were specificity, sensitivity, and accuracy of MRI in predicting post-laminar invasion after neoadjuvant chemotherapy.

Results: A total of 46 eyes (46 patients) were studied. Optic nerve thickening on MRI had a sensitivity, specificity, and accuracy of 100% (95% Confidence Interval (CI): 64.6–100%), 76.9% (95% CI: 61.7–87.4%), and 80.4% (95% CI: 66.8–89.4%), respectively. Optic nerve enhancement had a sensitivity, specificity, and accuracy of 85.7% (95% CI: 48.7–97.4%), 79.5 % (95% CI: 64.5–89.2%), and 80.4% (95% CI: 66.8–89.4%), respectively. Combined thickening and enhancement of the optic nerve had a sensitivity, specificity, and accuracy of 100% (95% CI: 60.9–100%), 82.4% (95% CI: 66.5–91.7%), and 85% (95% CI: 70.9–92.9%), respectively.

Conclusion: MRI is a valuable tool for restaging of retinoblastoma and predicting residual optic nerve disease after neoadjuvant chemotherapy. Combined thickening and enhancement on MRI appeared to be a more reliable indicator of post-laminar invasion as compared to thickening or enhancement alone.     

381例视网膜母细胞瘤侵及视神经的相关因素分析

目的探讨视网膜母细胞瘤（RB）侵犯视神经的相关危险因素。方法回顾性分析1990至2002年381例患儿的临床和病理资料,对其性别、年龄、眼别、病程、临床表现、临床分期及组织学分型与视神经侵犯程度进行分析。结果RB患儿视神经受侵犯的程度与病变临床分期、肿瘤组织学分型有一定关系（P〈0．01）。结论减少视神经受累的危险因素对RB的预后有重要意义。（中华眼科杂志．2007,43：489-492）     

Neurofibromatosis associated with retinoblastoma: case report.

A case of neurofibromatosis is presented in a 3-year-old male with leucokoria in his left eye. Enucleation was performed, and on pathological examination the mass filling the globe proved to be retinoblastoma. We believe ours to be the first reported case of this rare association.     

Current approaches to the diagnosis and management of retinoblastoma

Retinoblastoma is the most common primary intraocular malignancy of childhood, occurring in about one out of 15,000 live births. A century ago, the mortality rate with this malignancy was nearly 100%; today, it is less than 10%. Further-more, with recent advances in both diagnostic and therapeutic techniques, vision can often be preserved in one or both eyes. The approach to differential diagnosis utilized in the Wills Eye Hospital Ocular Oncology Service is outlined, and various diagnostic tests are described and illustrated. Procedures for examination under anesthesia are also detailed; it is emphasized that the physician should be prepared to institute appropriate treatment at the time of examination under anesthesia. Depending on the extent and nature of tumor involvement, treatment might consist of enucleation, external radiation, episcleral plaque irradiation, photocoagulation, cryotherapy, chemotherapy or a combination of these modalities. Indications, techniques and complications of each modality are discussed.     

Scleral buckling in retinoblastoma: case report.

In the course of treating retinoblastoma in a monocular child, a progressive retinal detachment occurred. Although no retinal break was demonstrated, several clinical features suggested that the detachment was rhegmatogenous. A successful scleral buckling procedure was performed without adverse sequelae. The rationale for this approach is discussed.     

Late presentation of bilateral retinoblastoma: case report

A case of retinoblastoma with uncommon features is reported, aiming at improving follow-up. In 1993, SJMMF, 9-month-old white boy, presented a squint in the left eye. A retinal tumor was detected. The patient had a family history of retinoblastoma. Enucleation was performed and retinoblastoma was proved. The patient underwent examination for staging, all were normal. The fellow eye remained normal for 10 years. During routine examination the retina map revealed three retinoblastoma white lesions in the nasal retina. The patient underwent transpupillary thermotherapy with diode laser. After 30 days, the lesions became atrophic. After 60 days there was tumor recurrence on the border of the lesion. Sclera cryotherapy was performed. There was tumor regression for six months. During follow-up, condensations next to the atrophic tumor lesions were discovered, which were vitreous seeds. Brachitherapy with 125 iodine was done. The lesions disappeared after 30 days. New vitreous seeds appeared 3 months later, set on the retina surface. They were blocked with sclera cryotherapy and transpupillary thermotherapy. The patient presented with new vitreous seeds after six months, which adhered to the retina. They were blocked with transpupillary thermotherapy. Follow-up was for 38 months since the appearance of the bilateral tumor. The patient presents normal visual acuity and clinical examination. This case is important considering the low frequency of the disease at this age. It is essential to maintain alertness when cases of retinoblastoma are seen as cured.     

Congenital pit of the optic nerve head with maculopathy--a case report

The aim of the article is to present the case of a fifty years old man suffering from congenital pit of the optic head with remission confirmed by OCT examination. The diagnosis was established after indirect ophtalmoscopy and OCT. Congenital pit of the head is a rare anomaly caused by the mutation of a PAX 2 gene. Location of the pathology and its symptoms cause difficulties in diagnosis and may indicate central serous choroidoretinopathy or glaucoma. Modern and non-invasive techniques show a two-layer structure at the edge of corpus vitreum and retina. Confirmation of congenital pit of the optic head has a prognostic value with other diseases of retina, such as hole of macula. Only 25% of cases have symptoms of remission without treatment. The rest require further monitoring and various methods of treatment, including vitrectomy.     

Autoimmune optic neuropathy: case report

We report on a 9-year-old female patient who had bilateral severe visual loss and was treated with oral corticosteroids. Visual improvement occurred in one eye. Nine years later she presented relapse of visual loss in her only seeing eye. Pulse corticosteroid therapy resulted in dramatic visual improvement followed, however, by progressive and complete visual loss as soon as the corticosteroid was tapered. Repeat treatment did not result in visual improvement. Clinical and laboratory investigation failed to find a systemic disease but the patient had positive antinuclear (1/640), anti-Ro and anti-La antibodies. Autoimmune optic neuropathy is a rare condition that may mimic an idiopathic optic neuritis and is characterized by acute visual loss, without systemic disease but with laboratory evidence of an autoimmune disorder, usually a positive ANA. A skin biopsy usually shows evidence of vasculitis. This condition should be treated aggressively, with corticosteroids and immunosuppressant, since the visual involvement is usually worse than that of idiopathic/desmyelinating optic neuritis.     

Frozen section of the optic nerve in retinoblastoma surgery

The usefulness of the frozen section examination to determine the extension of retinoblastoma into the optic nerve is discussed. Frozen sections performed at the time of surgery in seven retinoblastoma patients revealed the presence of tumor at the resection margin of the optic nerve in two cases.     

Adenocarcinoma of the lacrimal gland in bilateral retinoblastoma treated with external radiotherapy: a case report

This clinical case report describes the clinical findings and diagnosis of lacrimal gland adenocarcinoma that developed 20 years after external beam radiotherapy in the treatment of bilateral retinoblastoma. Visual acuity, slit lamp biomicroscopy, fundus color photography, nuclear magnetic resonance, lateral orbitotomy and histological analysis are described.     

Continuing challenges in the management of retinoblastoma with chemotherapy

The management of retinoblastoma has gradually changed over the past 10 years. Over 95% of children with retinoblastoma in the United States are cured with modern techniques. The challenge remains, however, in maintaining the eye and vision. There is a trend away from enucleation and external beam radiotherapy toward focal conservative treatments involving primary chemoreduction in conjunction with thermotherapy and cryotherapy. This is related to earlier detection of the disease, recognition of more effective chemotherapeutic agents, more focused local treatment modalities, and, most importantly, knowledge of the long-term risks of external beam radiotherapy. Enucleation is still preferable for retinoblastoma that fills most of the eye, especially when the disease is unilateral or when there is concern for tumor invasion into the optic nerve, choroid, or orbit. The orbital integrated implant is placed after enucleation and provides acceptable prosthesis motility and appearance. External beam radiotherapy is still vital for treating advanced retinoblastoma, especially when there is diffuse vitreous or subretinal seeding after failure of other methods and preservation of vision is a priority. The most important recent advance in the management of retinoblastoma is the use of intravenous chemotherapy for tumor reduction, a technique of neoadjuvant chemotherapy termed "chemoreduction." This is followed by tumor consolidation with focal measures such as thermotherapy, cryotherapy, and plaque radiotherapy. This strategy provides reduced tumor volume and often permits consolidation with methods other than radiotherapy. It appears that vision can be preserved in some cases with these methods, avoiding some of the local complications like radiation cataract or macular edema that have been found with radiotherapy techniques. External beam radiotherapy and enucleation can now be avoided in most cases of Reese-Ellsworth groups I (minimal disease) through IV (moderate disease) retinoblastoma. The most advanced stage of retinoblastoma, Reese-Ellsworth group V, continues to provide the greatest difficulty for management, and external beam radiotherapy and enucleation are often employed in addition to chemoreduction to save the child's life. A collaborative prospective study in North America is currently under way to further study the benefits and risks of chemoreduction for minimal, moderate, and advanced retinoblastoma.     

Monocular fixation with the optic nerve head: a case report.

PURPOSE: To document and discuss the case of a patient with left esotropia (ET) who uses the left optic nerve head (ONH) for monocular 'fixation'. CASE REPORT: The patient was an 80-year-old male with left ET from early childhood. Retinal tracking monocular fixation measurements with a Nidek MP-1 revealed stable fixation within the left ONH area. In an attempt to challenge the initial observation, further assessments of fixation were performed with a smaller target size and requiring various gaze positions. MP-1 fixation data showed remarkably stable monocular fixation (+/-1 degrees over 30 s) mostly within the left ONH for all the target sizes and positions of gaze tested. Additional clinical binocular evaluations showed concomitant left ET approximately 28 Delta, no movement with cover test regardless of fixation target and no significant monocular motility restrictions. Visuoscopy also revealed fixation at the left ONH. There was a strong family history of ET, but none of the other affected descendants tested (n = 3) demonstrated the same behaviour. CONCLUSIONS: This is the first report documenting an abnormally developed monocular ocular motor system, with principal visual direction and zero retinomotor value shifted from the fovea to the ONH. We do not believe that there is any direct visual input from the ONH. The patient may use visual information obtained by glancing with peri-papillary areas to determine the target position (although this was largely ruled out), or obtain position information from the average luminance produced by scattered light around the ONH margin. The abnormal oculocentric direction might then be combined with extraretinal information (efferent copy or extraocular muscle proprioception) of the eye location in the orbit to stabilize the fixation. This patient does not have the blind spot syndrome (Swan, 1948). We propose the use of a retinal perimeter for documentation of eccentric fixation in strabismus.     

以眼内炎为首发症状的弥漫浸润型视网膜母细胞瘤1例

弥漫浸润型视网膜母细胞瘤是视网膜母细胞瘤中一种少见的病理类型，发病率约为视网膜母细胞瘤的1％～2％，通常会由于检查不到明显的肿块而误诊为内源性眼内炎，本文报道1例以眼内炎为首发症状的弥漫浸润型视网膜母细胞瘤，并对其组织病理进行探讨。