[Erdheim-Chester disease presenting with bilateral orbital involvement: Report of three cases]. / La maladie d'Erdheim­Chester révélée par une atteinte orbitaire bilatérale : étude de trois cas.

PURPOSE: To report treatment outcomes of orbital tumors associated with Erdheim-Chester disease and to highlight the importance of systemic work-up in patients presenting with bilateral proptosis. PATIENTS AND METHODS: Three patients with Erdheim-Chester disease, whose initial manifestation was bilateral proptosis, were retrospectively studied. The course of onset, clinical, imaging and histopathological features, systemic associations and response to treatment were reviewed. The main outcome measures were Hertel measurements and orbital tumor regression on imaging studies. RESULTS: All patients presented with bilateral non-pulsatile proptosis resistant to retropulsion and headeache without specific localization. Magnetic resonance imaging studies showed bilateral intraconal orbital tumors. Incisional biopsy of these tumors demonstrated CD68+, CD1a-, and S100- histiocytic infiltrates consistent with the diagnosis of Erdheim-Chester disease. The BRAFV600E mutation was found in all cases. Systemic work-up revealed asymptomatic bony involvement in the lower extremities, perirenal fibrosis, central nervous system and cardiac involvement. All patients initially received pegylated interferon-α2a, which resulted in excellent responses except for the orbital tumors. Two patients were then treated with vemurafenib, which resulted in rapid regression of the orbital lesions. CONCLUSION: Pegylated interferon-α was highly effective in the control of cardiac, perirenal, skeletal and cerebral involvement but not the orbital tumors. The infiltrative orbital lesions of Erdheim-Chester disease would appear more responsive to vemurafenib.

Primary lacrimal sac non-Hodgkin's lymphoma in a child.

Primary lacrimal sac lymphoma is extremely rare in children. To our knowledge, only two previous cases have been reported in the literature. Here, we report the case of a 9-year-old girl with primary lacrimal sac lymphoma who has recurrent mass.

Calcification in choroidal melanoma after transpupillary thermotherapy.

PURPOSE: To report the response of calcification in choroidal melanoma after transpupillary thermotherapy. METHODS: Interventional case report. A 66-year-old male with a posterior uveal melanoma measuring 10 x 8 x 4.4 mm underwent infrared diode laser transpupillary thermotherapy three times, each 12 weeks apart. For each treatment, a 3-mm spot size of 1-minute duration was used, and the power setting varied between 450 mW and 500 mW. RESULTS: Two months after the last transpupillary thermotherapy session, A- and B-mode echographic patterns strongly suggestive of intratumor calcification were observed. The tumor regressed to 2.8 mm in thickness, but calcification persisted. Local recurrence or distant metastasis was not detected during a follow-up of 14 months. CONCLUSION: Clinically detectable calcification is extremely rare in choroidal melanomas. Tumor regression with slowly progressive calcification may occur after transpupillary thermotherapy.

Metastatic tumors to the iris in 40 patients.

PURPOSE: Metastatic cancer to the iris is rare, and the best approaches to clinical recognition and treatment of this neoplasm are not widely known. We reviewed a series of patients with metastatic cancer to the iris and elucidated the clinical variations, diagnostic approaches, and treatment of this neoplasm. METHODS: The files of the Wills Eye Hospital Ocular Oncology Service were surveyed, and cases of metastatic cancer to the iris were extracted for further analysis. General data, systemic data, tumor characteristics, diagnostic methods used, treatment, and prognosis were tabulated. RESULTS: Of 512 patients with uveal metastasis, the iris was involved in 40 (7.8%). The metastasis originated from breast carcinoma in 16 cases, lung carcinoma in 11, carcinoid tumor in three, melanoma in three, colonic carcinoma in two, and esophageal, laryngeal, prostate, and kidney carcinoma in one case each. In one case the primary tumor was never identified. There was no history of primary cancer in 13 (32%) of 40 patients. All iris metastases were unilateral, and secondary glaucoma was present in 15 (38%). Fine-needle aspiration biopsy of the iris lesion helped to establish the diagnosis in 11 cases. Treatment with chemotherapy, radiotherapy, or both, achieved local tumor control in all patients. The overall mean survival was 20 months and the median survival was 13 months after diagnosis of the iris metastasis. CONCLUSIONS: Iris metastasis can show a spectrum of clinical variations, but its features are generally distinctive enough to differentiate it from other intraocular neoplasms and inflammations. Treatment consists of chemotherapy, which was sometimes combined with ocular irradiation. The visual prognosis was good but the systemic prognosis was generally poor.

Percutaneous treatment of an orbital hydatid cyst: a new therapeutic approach.

PURPOSE: To describe the percutaneous treatment of an orbital hydatid cyst as an alternative approach to conventional surgery. METHODS: In a 21-year-old man with diplopia and right proptosis, radiologic studies disclosed a 25 x 25 x 20-mm purely cystic mass in the right retrobulbar area. Based on the presumptive diagnosis of hydatid cyst, the cyst was treated percutaneously under ultrasonographic guidance with aspiration, 15% hypertonic saline injection, and reaspiration without any complication. RESULTS: A substantial decrease in the size of the cyst was observed in the 3 months after treatment. Nine months after treatment, the shrunken cyst had a volume of only 0.5 ml, and the patient was asymptomatic. Twenty-one months after the procedure, the findings were consistent with those at 9 months of follow-up. CONCLUSION: Percutaneous treatment of orbital hydatid cysts, which is more satisfactory to both the patient and the physician, may be a safe and effective alternative to surgical extirpation.

Prolidase deficiency associated with pathologic myopia.

Deficiency of prolidase, a key enzyme in proline metabolism, is extremely rare and is usually associated with skin lesions, recurrent infections, characteristic facies, mental retardation, and splenomegaly. These clinical features are largely due to inhibition of normal recycling of proline, which causes an alteration in the metabolism of collagen and other proline-rich proteins. The case of a 25-year-old with all the recognized characteristics of prolidase deficiency is reported. Pathologic myopia, which has not been hitherto described in association with prolidase deficiency, is added to the clinical spectrum of this rare disorder.

Agenesis of the corpus callosum in a child with Leber's congenital amaurosis.

A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions), attenuation of the retinal arterioles, and very fine pigment dusting in the peripheral retina. Photopic and scotopic ERG were extinguished. Even though this is an exceedingly rare association, these findings along with neurological symptoms should alert the physician to conduct prompt cranial imaging.

Peripapillary staphyloma associated with orofacial capillary hemangioma.

Peripapillary staphyloma is usually unassociated with other ocular and systemic anomalies. A 5-year-old girl presented with peripapillary staphyloma in association with extensive ipsilateral orofacial capillary hemangioma involving the right forehead, right upper and lower eyelids, the right cheek, and the hard palate. She had received oral corticosteroids to induce regression of the hemangiomas at six months of age. On our examination, her visual acuity was counting fingers at two meters right eye and 20/20 left eye. She had mild right upper eyelid ptosis and right exotropia. Imaging studies did not show any central nervous system abnormality. There has been no progression or contraction in the staphylomatous lesion during 24 months of follow-up. Like the morning glory disk anomaly, peripapillary staphyloma may be associated with facial capillary hemangioma.

Bilateral papillomacular retinal folds and posterior microphthalmus: new features of a recently established disease.

Clinical findings of a 2.5-year-old girl presenting with barely detectable horizontal nystagmus and high hypermetropia are described. Despite the normal appearing anterior segments, the child had posterior microphthalmus and bilateral papillomacular retinal folds, conforming to a recently described, rare congenital disease. The patient also had significant posterior pole excyclorotation and avascular zones at the extreme temporal periphery without ridge formation or neovascularization. These findings were not reported previously. Other remarkable features include mildly depressed photopic and scotopic electroretinogram amplitudes and a short axial length of the vitreous cavity compared to age-matched normals, measured by ultrasonography. The present case adds new elements to this relatively rare ocular developmental abnormality.

Metastatic tumours to the conjunctiva: report of 10 cases.

AIMS/BACKGROUND: Ten patients with metastatic tumours to the conjunctiva and the clinical aspects of this rare form of ocular metastasis are described in this study. METHOD: All patients with ocular and adnexal metastatic tumours referred to an ocular oncology service were reviewed and those having conjunctival metastases were studied for the site of their primary tumour, clinical features, and treatment of the conjunctival tumour, associated ocular and systemic findings, and the patients' outcome. RESULTS: The primary malignancy was carcinoma of the breast in four, lung cancer in two, laryngeal carcinoma in one, cutaneous melanoma in two, and unknown in one patient. The conjunctival metastases appeared after the primary tumour over a mean period of 44 (8-130) months. They were solitary in eight cases, located in bulbar conjunctiva in six, palpebral conjunctiva in two, and in limbus and forniceal conjunctiva in one patient each. The tumour was yellow in colour in seven patients, red in two, and brown in one. Eight patients also had metastases to other ocular structures. Seven patients received external beam radiotherapy to the affected eye, two were managed by excisional biopsy, and one with chemotherapy. The mean survival after the diagnosis of conjunctival metastasis was nine (range 2-26) months. CONCLUSION: Metastatic tumours to the conjunctiva appear at an advanced stage of the systemic disease when there are other ocular and organ metastases. The presence of a conjunctival mass in a patient with a prior systemic cancer should alert the ophthalmologist to the possibility of a conjunctival metastasis and evaluation should be pursued.

Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association.

We report a male with cerebellar ataxia, hypogonadism and chorioretinopathy. The age of onset was 12. The parents were first cousins. Endocrinologic studies demonstrated hypogonadotropic hypogonadism due to pituitary dysfunction. The ocular disorder involved the choriocapillaris and the retina. The association may represent a separate syndrome, seldom recognized in the past.

Scintigraphic imaging of uveal melanoma with 99Tcm-glutathione.

A prospective study with a new tumour-seeking agent, 99Tcm-glutathione (GSH), was performed on 17 patients with choroidal melanoma. Planar and SPECT images using 99Tcm-GSH clearly demonstrated melanotic melanoma but failed to show amelonotic melanomas. Following confirmation of our results by concurrent ultrasonography and magnetic resonance imaging or computed tomography, patients were managed by either 125I plaque brachytherapy, diode laser transpupillary thermotherapy or enucleation depending on the site and location. In combination with other diagnostic tests, 99Tcm-GSH scintigraphy may play a role in the detection of uveal melanoma and its possible distant metastases.

Visualization of orbital retinoblastoma with technetium-99m (V) dimercaptosuccinic acid.

The potential contributions of technetium-99m (V) dimercaptosuccinic acid scintigraphy in the evaluation of orbital retinoblastoma, its local extensions and metastases were assessed in this study. Both planar and SPECT images clearly demonstrated the primary tumor and metastatic sites. Following confirmation of our results by contemporaneous ultrasonography, MRI and a subsequent incisional biopsy, the patient was treated with external beam radiotherapy and chemotherapy. This preliminary study showed that in combination with other diagnostic tests, Tc-99m (V) DMSA scintigraphy may play a role in the detection and follow-up of the local tumor extensions and metastases in patients with retinoblastoma.

Visualization of uveal amelanotic melanoma with technetium-99m(V) dimercaptosuccinic acid.

The possibility of using technetium-99m(V) dimercaptosuccinic acid, Tc-99m DMSA, in the evaluation of uveal amelanotic melanoma was assessed in this study. Both planar and SPECT images clearly demonstrated the tumor. Following confirmation of our results by contemporaneous ultrasonography and MRI the patient was treated with Iodine-125 brachytherapy. In combination with other diagnostic tests, Tc-99m(V) DMSA scintigraphy may play a role in the detection of uveal melanoma and its possible systemic metastases.

Ipsilateral orbital cavernous hemangioma and choroidal hemangioma.

PURPOSE: A unique case of simultaneous ipsilateral choroidal and orbital hemangiomas is described. METHODS: A 71-year-old man was found to have a left orbital intraconal mass while being worked up for intractable headache. He also had a left juxtapapillary choroidal hemangioma which did not cause any leakage to macular area. RESULTS: The left intraconal tumor was removed by medial transconjunctival orbitotomy. Histopathological examination revealed cavernous hemangioma. The ipsilateral choroidal hemangioma was managed by observation only. During 15 months of follow-up, there has been no growth or accumulation of subretinal fluid. CONCLUSIONS: The occurrence of orbital cavernous and choroidal hemangiomas on the same side suggests common pathogenic derangement acting on two different sites.

Transpupillary thermotherapy in the management of choroidal metastases.

PURPOSE: To report the authors' experience in the use of infrared diode laser transpupillary thermotherapy in the management of selected posterior choroidal metastatic tumors. METHODS: Seven eyes of seven patients were treated using 810 nm infrared diode laser. Spot sizes of 0.5 to 3 mm were selected, each lasting 1 minute. When necessary, the treatment was repeated at 8- to 10-week intervals. Disappearance of the tumor was the main outcome measure. RESULTS: The primary sites of carcinomas were breast, prostate, and lungs. The largest basal diameters of ocular tumors varied between 5 mm and 10 mm and the thickness ranged between 2 mm and 4.5 mm. A mean power of 612 mW was used in one to four treatment sessions. In six eyes the tumors were reduced into flat scars whereas in one case the tumor continued to grow necessitating external beam radiotherapy. In three eyes the visual acuity decreased and in three eyes the vision became better. In one eye the vision was restored after external beam radiotherapy with the disappearance of extensive subretinal fluid. There were no immediate postoperative complications. CONCLUSIONS: Transpupillary thermotherapy can be a reliable, convenient, and cost-cutting option in the management of small, solitary choroidal metastatic tumors with a thickness of less than 3.5 mm and which have minimal subretinal fluid. Although successful in terms of tumor control, treatment close to the fovea or optic nerve head may cause a permanent decrease in visual acuity.

Results of trabeculotomy and guarded filtration procedure for glaucoma associated with Sturge-Weber syndrome.

PURPOSE: To assess the efficacy of trabeculotomy and guarded filtration procedure in the management of glaucoma associated with the Sturge-Weber syndrome. METHODS: Six patients (seven eyes) with Sturge-Weber syndrome who underwent glaucoma surgery were retrospectively reviewed. One patient had bilateral glaucoma. Age at the time of operation ranged between 23 days and 9 years. The mean preoperative intraocular pressure was 30.6 mmHg (range 25-38 mmHg). Trabeculotomy and guarded filtration procedure were performed in three eyes each and both techniques were used in one eye. RESULTS: The mean follow-up was 6.3 (range 2-11) years. A single procedure lowered the intraocular pressure and arrested the progression of the disease in five eyes. Two patients required topical antiglaucoma medication. No patient needed reoperation. Two eyes suffered intra- and post-operative temporary choroidal effusions. CONCLUSIONS: Trabeculotomy in infancy and guarded filtration procedure in older children effectively stabilized the eyes and prevented further glaucomatous damage in our patients with Sturge-Weber syndrome.