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PubMedDate not supplied

Retinal capillary hemangiomas and von Hippel-Lindau disease.

von Hippel-Lindau disease is a multisystem familial cancer syndrome that commonly manifests in the eye as retinal capillary hemangiomas. As the earliest manifestation of the disease, these benign hamartomas can lead to secondary visual loss. Their typical clinical characteristics can lead to accurate diagnosis and appropriate treatment with either laser photocoagulation or cryotherapy enhancing one's probability of preserving vision before becoming symptomatic. Accurate diagnosis can also lead to surveillance of the various other organ systems involved in the disease such as the CNS, kidneys, adrenal glands and pancreas. This will also enable the clinician to provide genetic counseling for patients regarding the lifelong manifestations of this disease.

Diagnosis, Differential↗
PubMed2001

Orbital malignant fibrous histiocytoma following irradiation for retinoblastoma.

PURPOSE: An unusual case is reported of orbital malignant fibrous histiocytoma that developed after irradiation for retinoblastoma. METHODS: Case report. RESULTS: A 5-month-old girl underwent enucleation of the left eye, external beam irradiation of the right eye, and systemic chemotherapy for bilateral sporadic retinoblastoma. At age 17 years, a malignant fibrous histiocytoma developed in the medial aspect of the orbit and nasal cavity. After attempted excisional biopsy, she underwent craniofacial resection, orbital exenteration, maxillectomy, and tracheostomy. The patient was alive 12 months postoperatively without local or metastatic disease. CONCLUSIONS: Although orbital fibrous histiocytoma occurs usually as a primary tumor of adulthood, it can also develop as a secondary tumor after irradiation for retinoblastoma.

Biopsy↗
PubMed2006

Photodynamic therapy for vasoproliferative retinal tumors.

PURPOSE: To report our experience with photodynamic therapy (PDT) with verteporfin for patients with vasoproliferative retinal tumors (VPRTs). METHODS: Three patients with VPRTs who presented with macular exudative changes were treated with one session of PDT with 6 mg/m body surface area of verteporfin and a light dose of 100 J/cm at 689 nm delivered in 166 seconds. Biomicroscopy, fluorescein angiography, indocyanine green angiography, optical coherence tomography, and ultrasonography were performed before treatment and 1 month, 3 months, 6 months, and 1 year after treatment; visual acuity was measured using Early Treatment Diabetic Retinopathy Study criteria. RESULTS: At the 1-year follow-up, all tumors responded with a reduction in size (mean height: pretreatment, 2.96 mm; posttreatment, 1.32 mm), and optical coherence tomography showed complete resolution of macular exudates. For all patients, fluorescein angiography evidenced reduction of leakage from the lesion, and indocyanine green angiography verified nonperfusion of the vascular channels. An improvement in visual acuity (average, 4.7 Early Treatment Diabetic Retinopathy Study letters) was observed. No retreatment was needed. CONCLUSION: PDT may represent an effective and safe modality of treatment for VPRTs because of its selectivity. Our study supports the application of a light dose of 100 J/cm, although further studies with larger numbers of cases and longer follow-ups are required.

Adult↗
PubMed2004

Life-threatening haematological disorders presenting with opthalmic manifestations.

Three cases are reported where life-threatening haematological disorders requiring urgent medical intervention presented initially to the ophthalmologist. Case one, chronic myeloid leukaemia, presented with bilateral leukaemic retinopathy and central retinal vein obstruction due to hyperviscosity. Case two, acute myeloid leukaemia, presented with bilateral haemorrhagic retinopathy. Case three, aplastic anaemia, presented with bilateral retinopathy due to anaemia and thrombocytopaenia resembling bilateral central retinal vein occlusion. In all three cases the presence of simultaneous bilateral retinal vascular involvement and white-centred haemorrhages suggested an underlying haematological disorder and differentiated them from typical retinal venous obstruction. Prompt identification of the underlying haematological disorder allows timely referral for potentially life-saving treatment.

Acute Disease↗
PubMed2004

Retinoblastoma patients with high risk ocular pathological features: who needs adjuvant therapy?

AIMS: To describe the outcome of patients with non-metastatic unilateral retinoblastoma with high risk histopathological features after primary enucleation, and to clarify the need and results of adjuvant therapy. PATIENTS AND METHODS: From 1980 to 2001 adjuvant therapy was recommended only to patients with scleral involvement, post-laminar optic nerve involvement (PLONI) with either a positive margin or associated choroidal involvement, or (before 1994) isolated PLONI. RESULTS: 108 of 224 patients had at least one high risk feature (choroidal, scleral, anterior chamber, and/or PLONI). Patients with isolated choroidal (n = 55) or anterior chamber (n = 2) invasion, and most with PLONI without other risk factors (n = 21) were not treated; three relapsed but are long term survivors after intensive therapy. Four with isolated PLONI received adjuvant chemotherapy and none relapsed. Three of 11 with PLONI and concomitant choroidal or scleral involvement who received adjuvant therapy relapsed, versus two of four not treated. Two of five with scleral disease relapsed. All 12 with cut end involvement received adjuvant treatment and none relapsed. In the total group, all four patients who relapsed after adjuvant therapy died. CONCLUSIONS: Relapsing patients can be rescued with intensive therapy. Those with isolated choroidal or PLONI have a good prognosis without adjuvant therapy. Patients with PLONI with a positive margin have a good prognosis if treated with combined therapy. Those with scleral involvement or PLONI with concomitant choroid disease may benefit from adjuvant therapy.

Anterior Chamber↗
PubMed2003

Neoadjuvant chemotherapy for extensive unilateral retinoblastoma.

AIM: The role of neoadjuvant chemotherapy was studied when first line enucleation cannot be safely performed in unilateral extensive retinoblastoma (major buphthalmia or radiologically detectable optic nerve involvement). METHODS: Six patients, referred for unilateral retinoblastoma, presented with major buphthalmia (two) or optic nerve invasion (four): they were treated by neoadjuvant chemotherapy using etoposide and carboplatin. RESULTS: Good tumour response was observed in the two patients with buphthalmia and in three of four cases with optic nerve involvement. Meningeal progressive disease was observed in the last patient. The five patients without disease progression were then operated on: anterior enucleation in the patients with buphthalmia and enucleation via a double neurosurgical and ophthalmological approach with prechiasmatic optic nerve section in the other three cases. Postoperative chemotherapy was performed in these five patients. Local radiotherapy to the chiasmatic region and posterior part of the optic canal was necessary in only one patient. The non-operated patient died with disease progression 6 months after the diagnosis. The other five patients are alive with a follow up of 12, 15, 21, 36, and 40 months after stopping treatment. CONCLUSION: Neoadjuvant chemotherapy can be useful in extensive unilateral retinoblastoma with buphthalmia and/or radiological optic nerve invasion at diagnosis.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2003

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.

Child↗
PubMed2005

Immunocytochemical detection of deoxycytidine kinase in haematological malignancies and solid tumours.

BACKGROUND: Deoxycytidine kinase (dCK) is responsible for the activation of several clinically important deoxynucleoside analogues used for the treatment of haematological and solid malignancies. AIM: To measure dCK expression in tumour cells from different origins. METHOD: A rabbit antihuman dCK antibody was used for the immunocytochemical detection of dCK expression in three leukaemic cell lines (HL60, U937, and CCRF-CEM) and 97 patient samples (paediatric acute myeloid leukaemia (AML) and lymphoid leukaemia (ALL), retinoblastoma, paediatric brain tumours, and adult non-small cell lung cancer (NSCLC)). RESULTS: CCRF-CEM, U937, and HL60 cells stained positively for dCK and the degree of expression correlated with dCK activity. dCK expression varied between tumour types and between individual patients within one tumour type. dCK was located predominantly in the cytoplasm. The staining intensity was scored as negative (0), low (1+), intermediate (2+), or high (3+). Expression of dCK was high in AML blasts. In contrast, brain tumour samples expressed low amounts of dCK. dCK staining ranged from low (1+) to high (3+) in ALL blasts, retinoblastoma, and NSCLC tissue samples. Staining was consistent (interobserver variability, 88%; kappa = 0.83) and specific. Western blotting detected the dCK protein appropriately at 30 kDa, without additional bands. CONCLUSIONS: Immunocytochemistry is an effective and reliable method for determining the expression of dCK in patient samples and requires little tumour material. This method enables large scale screening of dCK expression in tumour samples.

Adult↗
PubMedDate not supplied

Bilateral central retinal vein occlusion associated with multiple myeloma.

PURPOSE: To report a case of simultaneous bilateral central retinal vein occlusion (CRVO) associated with multiple myeloma. METHODS: A 65-year-old woman had sudden, painless loss of vision in both eyes for 20 days. Ophthalmologic examination revealed bilateral CRVO. Appropriate medical workup was conducted, and multiple myeloma was diagnosed as the underlying cause. RESULTS: Clinical support and chemotherapy effectively controlled paraprotein production, leading to improvement of both systemic and ocular alterations. CONCLUSIONS: Many conditions have been noted to be associated with CRVO. Based on a Medline search, this is the first report of simultaneous bilateral CRVO as the first manifestation of multiple myeloma, illustrating the need for a primary care ophthalmologist to be involved in the basic assessment for associated underlying diseases in retinal disorders.

Aged↗
PubMed2006

Cerebroretinal microangiopathy with calcifications and cysts.

BACKGROUND: Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic nails without cyst formation. METHODS: We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. We reviewed clinical, ophthalmologic, radiologic and neuropathologic data of seven deceased patients and studied five patients prospectively. RESULTS: Eleven patients were small for gestational age; the other symptoms emerged from infancy to adolescence. All patients had neurologic symptoms including seizures, spasticity, dystonia, ataxia, and cognitive decline. Progressive intracerebral calcifications involved deep gray nuclei, brainstem, cerebral and cerebellar white matter, and dentate nuclei and were accompanied by diffuse white matter signal changes and, in five patients, cerebral cysts. Eleven patients had retinal telangiectasias or angiomas. Additional features were skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced lumen. CONCLUSIONS: Our data suggest that Coats plus syndrome and leukoencephalopathy with calcifications and cysts belong to the same spectrum. The primary abnormality seems to be an obliterative cerebral angiopathy involving small vessels, leading to dystrophic calcifications via slow necrosis and finally to formation of cysts and secondary white matter abnormalities.

Adolescent↗