High resolution magnetic resonance imaging of retinoblastoma

BACKGROUND/AIMS: Diagnosis of retinoblastoma is mainly based on indirect ophthalmoscopy, but additional imaging techniques are indispensable for the staging of the disease. A new high resolution magnetic resonance imaging (MRI) technique for the examination of the eye was evaluated. A new surface coil with a diameter of 5 cm allows a field of view of 60 mm with an in-plane resolution of 0.8 mm. We compared preoperative MRI scans with the histology after enucleation in 21 cases of retinoblastoma. Parameters studied were appearance of retinoblastoma, choroidal and scleral infiltration, extraocular extension, optic nerve infiltration, and vitreous seeding. RESULTS: All retinoblastomas could be visualised as hypointense to vitreous on T2 weighted images and slightly hyperintense to vitreous on plain T1 weighted images with a moderate enhancement after contrast application. Histology revealed seven cases with infiltration of the optic disc or optic nerve. Preoperative MRI scans depict juxtapapillary tumour masses, but it was impossible to differentiate between a juxtapapillary retinoblastoma, a prelaminar infiltration of the optic disc, or a just postlaminar optic nerve infiltration. In five of 14 cases with a proved tumour infiltration of the choroid, MRI scans showed an inhomogeneous contrast enhancement of the choroid in enhanced T1 weighted sequences beneath the retinoblastoma. Whether this sign is specific for a choroidal infiltration or is just an artefact remains unclear. High resolution MRI scans did not allow the exclusion of this form of intraocular tumour extension. All nine cases with proved vitreous seeding were not detected by MRI scans. None of these cases showed scleral infiltration or orbital tumour extension. Therefore, it is not possible to judge the rank of this technique in detecting orbital tumour growth. CONCLUSION: The new MRI technique is of limited value in visualisation of prelaminar or postlaminar infiltration of the optic nerve. Advanced choroidal infiltration might be visualised by contrast enhanced T1 weighted MRI scans, but the available spatial resolution did not allow the exclusion this critical form of tumour growth by MRI scans. Nevertheless, high resolution MRI with the new surface coil has superior contrast and spatial resolution compared to computed tomograph (CT) or other available imaging techniques. MRI cannot replace CT in detecting tumour calcification but with increasing experience with this new technique it should be possible to renounce CT scans in the majority of cases of retinoblastoma.     

Vitrectomy in eyes with unsuspected retinoblastoma

OBJECTIVE: To analyze patient management and prognosis after vitrectomy in eyes with unsuspected retinoblastoma. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Eleven consecutive patients who had undergone vitrectomy on an eye with unsuspected retinoblastoma. MAIN OUTCOME MEASURES: The two main outcome measures were ultimate patient management and the development of retinoblastoma metastasis. RESULTS: Of more than 900 consecutive patients with retinoblastoma managed on the Ocular Oncology Service at Wills Eye Hospital in Philadelphia, 11 (1%) had prior vitrectomy in an eye with viable tumor before referral to us for suspected retinoblastoma. The main preoperative diagnoses included vitreous hemorrhage in seven patients (64%), toxocariasis in two patients (18%), toxoplasmosis in one patient (9%), and endophthalmitis in one patient (9%). In no case was retinoblastoma suspected before vitrectomy. The mean patient age at vitrectomy was 6 years. Retinoblastoma was later suspected during vitrectomy in two patients (18%), on cytologic examination of the vitrectomy specimen in eight patients (73%), and after referral in one patient (9%). The mean interval between vitrectomy and referral to us was 23 days. On examination, the globe was classified as Reese-Ellsworth group Vb in all 11 patients (100%). Anterior chamber tumor cells were clinically visible in four eyes (36%), hyphema in two eyes (18%), and iris neovascularization in two eyes (18%). Retinoblastoma cells were visualized in the vitreous in seven eyes (64%) and not visualized in four eyes (36%) that had vitreous blood. Enucleation was necessary in all 11 patients (100%). Adjuvant treatment was delivered in 10 patients (91%), using orbital radiotherapy in nine patients (82%) and chemotherapy in nine patients (82%). Histopathologic evidence of retinoblastoma invasion was documented in the episclera (two eyes; 18%), anterior chamber (seven eyes; 64%), iris (five eyes; 45%), ciliary body (five eyes; 45%), choroid (three eyes; 27%), and optic nerve (four eyes; 36%; prelaminar, two eyes; postlaminar, two eyes). The vitrectomy ports, Tenon's fascia, cut end of the optic nerve, and orbit were free of tumor. Of the 10 patients who received prophylactic chemotherapy, radiotherapy, or both in addition to enucleation for prevention of retinoblastoma metastasis, none (0%) experienced metastasis or orbital recurrence during the mean follow-up of 7 years (range, 0.2-24 years) from the time of retinoblastoma diagnosis. However, one patient was referred to us after the development of metastatic retinoblastoma, and despite aggressive chemotherapy and radiotherapy after enucleation, died 24 months later. CONCLUSIONS: Retinoblastoma may present with atypical features such as vitreous hemorrhage or signs of vitreous inflammation, particularly in older children. Vitrectomy should be avoided in these cases until the possibility of underlying retinoblastoma is excluded. If vitrectomy is performed in an eye with unsuspected retinoblastoma, enucleation combined with adjuvant chemotherapy, radiotherapy, or both without delay is advised to prevent systemic tumor dissemination.     

Simple technique for the rescue and refixation of a partially disenclavated retropupillary iris claw intraocular lens

AIM: To describe and compare pathologic findings in eyes enucleated after superselective ophthalmic arterial chemotherapy (SOAC) or SOAC with intravenous chemotherapy (IVC) for retinoblastoma. METHODS: Medical records between January 1st, 2014 and June 31st, 2017 were retrospectively analyzed, and pathologic findings were recorded. This study included 36 eyes from 22 (61.1%) male and 14 (38.9%) female patients. Nineteen of 36 (52.8%) eyes received SOAC (mean=3, range=1-7) as primary treatment, and 17 of 36 (47.2%) eyes received SOAC (mean=3.7, range=1-10) after IVC (mean=6.1, range=2-11). Tumor extension including choroidal invasion (n=9, 25%), optic nerve invasion (n=5, 13.9%) and anterior segment invasion (n=5, 13.9%) were recorded. RESULTS: Histopathologic evidence of ischemic damage in the retina and choroid was found in 28 (77.8%) eyes. Thrombosed blood vessels were identified in 9 (25%) eyes, including orbital artery in the retrobulbar orbit (n=1), intrascleral vessels (n=4), and chorioretinal vessels (n=6). Fibrotic changes were found in extraocular muscles (n=5, 13.9%) and optic nerve (n=5, 13.9%). Varying degrees of scleral degeneration were found in all eyes. In statistical analysis, there was no significant difference in clinical and pathologic changes between SOAC group and SOAC with IVC group except for optic nerve invasion (P=0.047). CONCLUSION: SOAC for retinoblastoma can result in ocular toxicity, and SOAC with IVC did not increase the toxicity but reduced the incidence of optic nerve invasion.     

Pathologic comparisons of enucleated eyes with retinoblastoma after superselective ophthalmic arterial chemotherapy with or without intravenous chemotherapy

AIM: To describe and compare pathologic findings in eyes enucleated after superselective ophthalmic arterial chemotherapy (SOAC) or SOAC with intravenous chemotherapy (IVC) for retinoblastoma. METHODS: Medical records between January 1st, 2014 and June 31st, 2017 were retrospectively analyzed, and pathologic findings were recorded. This study included 36 eyes from 22 (61.1%) male and 14 (38.9%) female patients. Nineteen of 36 (52.8%) eyes received SOAC (mean=3, range=1-7) as primary treatment, and 17 of 36 (47.2%) eyes received SOAC (mean=3.7, range=1-10) after IVC (mean=6.1, range=2-11). Tumor extension including choroidal invasion (n=9, 25%), optic nerve invasion (n=5, 13.9%) and anterior segment invasion (n=5, 13.9%) were recorded. RESULTS: Histopathologic evidence of ischemic damage in the retina and choroid was found in 28 (77.8%) eyes. Thrombosed blood vessels were identified in 9 (25%) eyes, including orbital artery in the retrobulbar orbit (n=1), intrascleral vessels (n=4), and chorioretinal vessels (n=6). Fibrotic changes were found in extraocular muscles (n=5, 13.9%) and optic nerve (n=5, 13.9%). Varying degrees of scleral degeneration were found in all eyes. In statistical analysis, there was no significant difference in clinical and pathologic changes between SOAC group and SOAC with IVC group except for optic nerve invasion (P=0.047). CONCLUSION: SOAC for retinoblastoma can result in ocular toxicity, and SOAC with IVC did not increase the toxicity but reduced the incidence of optic nerve invasion.     

Three dimensional ultrasound of retinoblastoma: initial experience

AIM: To use 3D ultrasonography (3DUS) for the diagnosis of retinoblastoma. METHODS: Five eyes of three children with retinoblastoma were evaluated using a commercially available computerised 3DUS system. Interactive sectioning of the stored and reconstructed 3D volumes were performed. 3DUS and histopathological findings were correlated after enucleation. RESULTS: 3DUS examination revealed characteristics consistent with retinoblastoma: endophytic mass, retinal detachment, intratumoural calcifications, and secondary orbital shadowing. Unlike 2D imaging, 3DUS allowed for analysis of the acquired and stored volumes. Rotation and sectioning of this volume allowed the discovery of new oblique and coronal views. For example, calcium related orbital shadows were seen as 3D volumes and (coronal) cross sections of the optic nerve were evaluated for evidence of intraneural invasion by retinoblastoma. CONCLUSION: This is the first reported series of patients examined with 3DUS imaging for retinoblastoma. This technique allowed for new oblique and coronal views of the tumour and optic nerve. The ability to retrospectively analyse the (scanned and stored) ocular volume facilitated patient care, teaching, tumour-volume analysis, and telemedicine.     

Clinical features of dysthyroid optic neuropathy: a European Group on Graves' Orbitopathy (EUGOGO) survey

BACKGROUND: This study was performed to determine clinical features of dysthyroid optic neuropathy (DON) across Europe. METHODS: Forty seven patients with DON presented to seven European centres during one year. Local protocols for thyroid status, ophthalmic examination and further investigation were used. Each eye was classified as having definite, equivocal, or no DON. RESULTS: Graves' hyperthyroidism occurred in the majority; 20% had received radioiodine. Of 94 eyes, 55 had definite and 17 equivocal DON. Median Clinical Activity Score was 4/7 but 25% scored 3 or less, indicating severe inflammation was not essential. Best corrected visual acuity was 6/9 (Snellen) or worse in 75% of DON eyes. Colour vision was reduced in 33 eyes, of which all but one had DON. Half of the DON eyes had normal optic disc appearance. In DON eyes proptosis was > 21 mm (significant) in 66% and visual fields abnormal in 71%. Orbital imaging showed apical muscle crowding in 88% of DON patients. Optic nerve stretch and fat prolapse were infrequently reported. CONCLUSION: Patients with DON may not have severe proptosis and orbital inflammation. Optic disc swelling, impaired colour vision and radiological evidence of apical optic nerve compression are the most useful clinical features in this series.     

眶尖部及视神经肿瘤的早期诊断

目的探讨眶尖部及视神经肿瘤在眼球突出前的临床表现、影像学检查特征及临床诊断要点。方法回顾性分析22例无明显眼球突出单侧眼眶肿瘤患者的病历资料,包括主要症状、首发表现、临床诊治过程及影像学检查结果。结果22例肿瘤患者中,海绵状血管瘤6例,神经鞘瘤、视神经鞘脑膜瘤、鼻窦及鼻咽腔恶性肿瘤眶内蔓延各4例,后组筛窦黏液囊肿2例,神经纤维瘤和视神经胶质瘤各1例。以视力下降为首发症状者17例,视力下降合并复视者3例。全部患者均在CT或MRI检查后确诊。肿瘤位于眶尖部或起源于视神经。结论眶尖部及视神经肿瘤的早期症状是视功能障碍,无眼球突出表现。视力呈缓慢进行性下降,按视神经炎治疗效果差。CT或MRI检查对早期诊断起重要作用。     

Orbital optic nerve gliomas in children with neurofibromatosis type 1

PURPOSE: To describe the clinical course and treatment of symptomatic orbital optic nerve gliomas in children with neurofibromatosis type-1 (NF-1). METHODS: A retrospective review of the records of patients with NF-1 and symptomatic orbital optic nerve gliomas seen in a large multidisciplinary NF-1 clinic of a tertiary care children's hospital. The main outcome measures included presenting symptoms and signs, ophthalmologic examination at diagnosis, the presence of progressive disease following diagnosis, type of therapy, and the reasons therapy was instituted. RESULTS: Twelve patients with symptomatic orbital optic nerve gliomas, all of which led to proptosis (eight girls, four boys), were identified. The mean age of diagnosis of NF-1 was 20 months; the mean age of diagnosis of the orbital optic nerve glioma was 26 months. At the time of diagnosis of the tumor, 10 of 12 patients (83%) had decreased visual acuity in the affected eye. Three patients underwent optic nerve resection; eight received chemotherapy, and one was observed without therapy. Of the eight children who received chemotherapy, progressive disease prior to treatment could be documented in only three; none of these eight children had a reproducible improvement in vision following chemotherapy. There was no demonstrable improvement in vision in any treated patient with NF-1-associated orbital optic nerve gliomas. CONCLUSIONS: Although not definitively proven, our data and previous studies suggest that NF-1-associated orbital optic nerve gliomas should not be treated unless there is clear evidence of either ophthalmologic or radiographic progression. Surgical excision of tumors which have led to proptotic eyes without functional vision should be reserved for cosmetic purposes or to treat complications of exposed globes.     

Non-traumatic orbital haemorrhage

Purpose : To establish the incidence of underlying orbital vascular anomalies, the presence of systemic associations and predisposing factors, the natural history and appropriate management of patients with non‐traumatic orbital haemorrhage presenting in an orbital clinic. Methods : The records of 115 patients with a diagnosis of non‐traumatic orbital haemorrhage were reviewed with regard to clinical findings, investigations, management and outcome. Results : Associated orbital vascular malformations were present in 104 patients (90%). Thirteen (11%) had additional or other predisposing factors (childbirth, prolonged headstands, hypertension or coagulopathies). Six patients (5%) had no predisposing factor. Acute onset painful proptosis, associated with lid swelling or a mass, was the most common presentation. Visual acuity was reduced in 37 patients (32%) at presentation. Excluding eight patients (7%) who underwent surgery for optic nerve compression, spontaneous resolution of the haemorrhage was complete in 62%, partial in 27%, while 4% had no resolution. Final visual acuity was reduced in 23 patients (20%). Conclusion : The majority of bleeds are associated with some form of orbital vascular anomaly. Where no such anomaly can be demonstrated a search for an underlying systemic cause should be performed. Haemorrhages in the young were usually localized whereas those in older patients were diffuse. Orbital imaging, with a combination of computed tomography and magnetic resonance imaging, was helpful in the assessment of these lesions. Most bleeds are venous and self‐limiting. Surgical intervention was rarely necessary and should be confined to those with optic nerve compromise or a localized lesion which persists.     

Tumour angiogenesis as a prognostic factor for disease dissemination in retinoblastoma

AIM: To evaluate tumour angiogenesis as a predictor of prognosis in retinoblastoma. METHODS: This was a retrospective, non-randomised comparative clinicopathological study. The histopathology from 24 cases of Reese-Ellsworth (RE) group V unilateral retinoblastoma treated by enucleation alone was reviewed. Group I consisted of five patients (four RE group Vb and one group Va) who developed disseminated disease at a mean of 10.4 months after enucleation. The remaining 19 patients constitute group II (18 RE group Vb and 1 group Va), none of whom had developed metastatic disease with a mean follow up of 54 months. None of the 24 patients had evidence of extraocular disease at enucleation. The surgical specimens from patients with unilateral retinoblastoma treated by enucleation at Hospital do Cancer AC Camargo between January 1992 and December 1995 were identified, reviewed and the clinical data recorded. Two subsequent histological sections were prepared. One stained with haematoxylin and eosin for assessment of choroidal and optic nerve invasion, and the other for immunoreaction with an endothelium specific marker (antibody anti-CD 34). The main outcome measures were choroidal and/or optic nerve invasion and quantification of the tumour's relative vascular area (TRVA) obtained by Chalkley counting. RESULTS: Choroidal invasion was present in three eyes of group I (all massive) and six eyes of group II (two focal and four massive). Optic nerve invasion was found in two eyes of group I (all post-laminar) and four eyes of group II (three prelaminar and one post-laminar). There was no statistical difference regarding choroidal or optic nerve between the two groups. The TRVA was the only independent variable found to predict disease dissemination (p = 0.008 by Cox analysis). A TRVA equal to or greater than 3.9% had 100% sensitivity and 79% specificity in predicting disease dissemination. CONCLUSIONS: Quantification of angiogenesis, through measurement of the TRVA, can help to identify patients with retinoblastoma at high risk for disease dissemination after enucleation.     

视网膜母细胞瘤预后相关病理因素分析

目的 研究视网膜母细胞瘤患者预后的相关病理因素,探讨评估患者预后的病理学指标.方法 对1995-2004年期间在中山大学中山眼科中心经眼球摘除并病理确诊的125例视网膜母细胞瘤单眼患者的临床病理资料和随访资料进行回顾性研究,应用Cox比例风险模型单因素和多因素分析影响预后的病理因素.结果 视网膜母细胞瘤患者总体5年生存率为89%,单因素预后分析显示视神经断端浸润(χ2=114.150,P=0.000)、巩膜浸润(χ2=35.080,P=0.000)、眶组织浸润(χ2=28.765,P=0.000)、虹膜浸润(χ2=18.242,P=0.000)、睫状体浸润(χ2=11.495,P=0.001)和角膜浸润(χ2=10.240,P=0.001)为影响预后的重要因素;多因素预后分析显示视神经筛板后浸润(P=0.045,Wald值4.013)和视神经断端浸润(P=0.000,Wald值37.559)为影响预后的重要因素.结论 视网膜母细胞瘤病理检查有广泛脉络膜浸润、巩膜浸润、眶组织浸润、视神经筛板后浸润和视神经断端浸润是影响患者预后的重要危险因素.     

Prognosis of retinoblastoma. Report of 50 cases

PURPOSE: The aim of this study was to analyze the factors influencing the prognosis of retinoblastoma. MATERIALS AND METHODS: In 50 children with retinoblastoma, 69 eyes were reviewed. All patients had a full ophthalmic examination, a B-scan ultrasound, a computerized tomography scan and a pediatric examination. We performed enucleation in 47 eyes (with a histopathological study), external beam irradiation in 16 eyes, curitherapy in 4 eyes, cryotherapy in 3 eyes, and adjuvant chemotherapy in 7 cases. RESULTS: The global survival rate was 87.5%. The main aggravating factors were: the size of the tumor and the extraretinal involvement with extension within the chroid, the sclera, and the optic nerve. CONCLUSION: The prognosis of retinoblastoma mainly depends on the extraretinal invasion.     

Strabismus following endoscopic orbital decompression for thyroid eye disease

Endoscopic orbital decompression may be used to treat disfiguring proptosis or sight threatening optic nerve compression in patients with thyroid eye disease. Strabismus is common in thyroid eye disease and frequently follows decompression surgery. We retrospectively reviewed patients undergoing endoscopic decompression for thyroid eye disease, by a single surgeon, from 1994 to 2000. Twenty-three patients (21 female, 2 male) were identified with a mean age of 47.5 years. At presentation, 21 patients had proptosis, 8 optic nerve compression (2 without proptosis) and 11 strabismus (9 complained of diplopia) with a mean BSV score of 24.5 before decompression. Forty orbits were decompressed with a mean decrease in proptosis of 3.3mm. Following decompression, the mean BSV score was 25, and 17 patients had manifest strabismus in primary gaze (3 at near only) of whom 10 had pre-existing strabismus. Five patients had new diplopia (22%). Eleven patients ultimately required strabismus surgery of whom 8 had manifest strabismus before decompression. Following strabismus surgery, the mean BSV score was 37. The final BSV score for those not requiring strabismus surgery was 29. Mean follow-up was 28 months. Endoscopic orbital decompression can effectively treat disfiguring proptosis. Diplopia is a common complication, but pre-existing diplopia may improve.     

Unsuspected recurrent pituitary adenoma presenting as an orbital mass

PURPOSE: Orbital invasion of pituitary tumors is rare and usually accompanied by optic nerve head pallor and visual loss. We describe a case of unilateral massive orbital invasion by a recurrent pituitary tumor with preserved visual acuity and normal optic nerve appearance. METHODS: Case report. RESULTS: Progressive proptosis developed 15 years after transphenoidal removal of a pituitary tumor. Based on the radiological appearance and the clinical history, the patient was suspected to have a sphenoid wing meningioma secondary to previous radiation treatment. A combined neurosurgical and orbital approach was used to remove the intraorbital mass, which extended from the cranial cavity through the superior orbital fissure and the optic canal. Histopathologic examination demonstrated a recurrent nonsecreting pituitary adenoma. CONCLUSIONS: Orbital extension of a recurrent pituitary adenoma should be considered in the differential diagnosis of progressive proptosis even in the absence of significant optic neuropathy.     

甲状腺相关眼病眼眶减压术的疗效分析

目的：探讨眼眶减压术在甲状腺相关眼病中治疗的价值。方法：回顾性分析中山眼科中心1993－2000年27例（30只眼）经全身和眼部临床检查（视力、视野或视觉诱发电位等）确诊为甲状腺相关眼病患者采用眼眶减压术（一壁、二壁及三壁减压）治疗的临床资料,观察其手术前和手术后患者视力、眼球突出度及眼球运动的变化。术后随访2个月至7年,平均13．7个月。结果：视力：19只眼（63．3％）明显提高;4只眼（13．3％）轻度提高,视力均保持在0．2－0．8;4只眼（13．3％）视力无变化,其中3只眼（10．0％）视力下降。24只眼（80．0％）眼球突出后退≥3．0mm,28只眼（93．3％）眼球突出后退≥2．0mm,平均眼球突出后退3．6mm。结论：眼眶减压术可提高甲状腺相关眼病患者的视力,减轻其眼球突出度。     

Phthisis bulbi in retinoblastoma

Background: Phthisis bulbi is a relatively uncommon and atypical clinical presentation of retinoblastoma. Design: Retrospective study conducted at a tertiary care hospital. Participants: Eighteen consecutive retinoblastoma patients with primary phthisis bulbi. Methods: Retrospective analysis of clinical, imaging and histopathological features of all retinoblastoma patients with primary phthisis bulbi, treated at our centre between January 2005 and December 2009. Main outcome Measure: Clinical and histopathology features. Results: Eighteen (3.5%) retinoblastoma patients developed primary phthisis bulbi. The median age of presentation was 1.5 years. The median duration of symptoms before presentation was 6 months. In total, 15 out of 18 (83%) cases had bilateral disease. Among these, 80% (12/15) had advanced intraocular disease in the fellow eye. Most common first symptom was white reflex. History of orbital inflammation was present in 12/18 cases. Computed tomographic scan of orbit showed intraocular mass with calcific densities in 16 eyes. In two cases, hyperdense mass was seen without any calcification. On histopathology, residual viable tumour cells with characteristics of poorly differentiated retinoblastoma were found in 67% (12/18) eyes. High‐risk factors were present in six cases with microscopic residual disease in three cases. Conclusions: This is the largest case series of retinoblastoma patients with primary phthisis bulbi. Phthisis bulbi in retinoblastoma may be associated with bilateral disease in most cases and advanced intraocular disease in the fellow eye in a significant number of cases. Regression is incomplete in majority of these cases; therefore, enucleation must definitely be done in all cases of retinoblastoma presenting with phthisis bulbi.     

Strabismus following endoscopic orbital decompression for thyroid eye disease

Endoscopic orbital decompression may be used to treat disfiguring proptosis or sight threatening optic nerve compression in patients with thyroid eye disease. Strabismus is common in thyroid eye disease and frequently follows decompression surgery. We retrospectively reviewed patients undergoing endoscopic decompression for thyroid eye disease, by a single surgeon, from 1994 to 2000. Twenty-three patients (21 female, 2 male) were identified with a mean age of 47.5 years. At presentation, 21 patients had proptosis, 8 optic nerve compression (2 without proptosis) and 11 strabismus (9 complained of diplopia) with a mean BSV score of 24.5 before decompression. Forty orbits were decompressed with a mean decrease in proptosis of 3.3 mm. Following decompression, the mean BSV score was 25, and 17 patients had manifest strabismus in primary gaze (3 at near only) of whom 10 had pre-existing strabismus. Five patients had new diplopia (22%). Eleven patients ultimately required strabismus surgery of whom 8 had manifest strabismus before decompression. Following strabismus surgery, the mean BSV score was 37. The final BSV score for those not requiring strabismus surgery was 29. Mean follow-up was 28 months. Endoscopic orbital decompression can effectively treat disfiguring proptosis. Diplopia is a common complication, but pre-existing diplopia may improve.     

Retinoblastoma in Taiwan: survival and clinical characteristics 1978-2000

PURPOSE: Few estimates of the survival rates ofwas retinoblastoma have been reported from the Asia region. In this study, we aim to describe the survival and clinical characteristics of 96 retinoblastoma cases treated at Chang Gung Medical Center, Taipei, between 1978 and 2000.METHODS: We retrospectively analyzed the clinical records of 96 children (116 eyes) diagnosed with retinoblastoma and treated between 1978 and 2000. Information on sex, laterality, age at diagnosis, presenting signs, spread of tumor, treatment modality, survival rate, and family history were collected.RESULTS: Seventy-six (79.2%) cases were unilateral and 20 (20.8%) were bilateral. The mean age overall at the time of diagnosis was 24.7 months; in unilateral cases, 27.1 months; and in bilateral cases, 15.6 months. The most common presenting signs were leukocoria (75 cases, 78.1.0%), buphthalmos (34 cases, 35.4%), proptosis (16 cases, 16.7%), and strabismus (12 cases, 12.5%). Forty-two eyes had orbital extension, 27 patients had central nervous system invasion, 16 cases exhibited bone marrow involvement, and 3 cases had liver metastasis. Three (3.1%) patients had a family history of retinoblastoma. None of the cases developed a secondary neoplasm. The 3-year cumulative survival rate of the 96 patients was 64.41% (unilateral, 71.97%; bilateral 40.01%).CONCLUSIONS: The mortality was much higher than that in reports on Western and Japanese patients. Delayed diagnosis with frequent extraocular spread at the time of diagnosis caused the low survival rate. Fewer familial cases were encountered in our study than in other studies.     

Three presentations of CNS disease in patients with intraocular retinoblastoma at a tertiary medical center in the United States

Background: Patients with intraocular retinoblastoma who present with central nervous (CNS) disease at diagnosis is very rare in developed countries.

Methods: Herein, we report a review of patients with intraocular retinoblastoma diagnosed with concurrent CNS disease in the United States between January 2011 and June 2013.

Results: Three patients were identified in this review. The first case is a 2-year old male who presented with unilateral Group E retinoblastoma, optic nerve infiltration to the orbital apex, and a suprasellar mass. The second case is a 5-month old female with bilateral retinoblastoma, who had no optic nerve invasion, but demonstrated a temporal lobe lesion that was biopsy-proven to be metastatic retinoblastoma. The third case is a 10-month old girl with bilateral retinoblastoma who presented with a sellar mass and no evidence of optic nerve invasion in the enucleated Group E eye.

Conclusions: Although rare in developed countries, patients with intraocular retinoblastoma can present with a spectrum of CNS findings at the time of diagnosis. Magnetic resonance imaging of the brain and orbits is a critical component of the staging evaluation.     

Optic nerve breast metastasis mimicking meningioma

Purpose: We report on an optic nerve breast metastasis masquerading initially as a central retinal vein occlusion and later as an optic nerve meningioma. Methods: A 60-year-old female presented with a left central retinal vein occlusion (CRVO). She represented 7 months later with left upper ptosis, proptosis and painful rubeotic glaucoma. Computed tomography (CT) and magnetic resonance imaging suggested an optic nerve meningioma. On referral to the regional orbital unit, a mild left external ophthalmoplegia was noted and, in view of previous right mastectomy and chemotherapy 3 years earlier, the left optic nerve was biopsied simultaneously with left enucleation of her painful eye. Results: Histopathology showed infiltration of the optic nerve and meningeal sheath spreading into the subretinal space and vitreous by malignant epithelial cells, consistent with breast origin. Further CT imaging and bone scans revealed no other metastases. Single field left orbit radiotherapy of 20 Gy was given in five fractions and Arimidex (Zeneca Pharmaceuticals, Cheshire, England) was commenced with the cessation of tamoxifen. The patient was also given an ocular prosthesis. Sadly, she lost vision in her other eye due to retrograde malignant invasion of her optic chiasm and died 6 weeks later. Conclusions: Orbital and choroidal metastases are relatively common but isolated optic nerve metastases are extremely rare. Progressive infiltration of the nerve is likely to enhance CRVO ischaemia and resultant rubeotic glaucoma. In the diagnosis of CRVO, proptosis or external ophthalmoplegia, the presence of pre-existing malignant disease should raise concerns, as delay in diagnosis may affect outcome, particularly if the metastases are sensitive to pharmacological therapy.