[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.

[Solitary orbital schwannomas: clinical, imaging, and surgical features]. / Schwannomes orbitaires isolés : aspects cliniques, radiologiques et chirurgicaux.

INTRODUCTION: Schwannoma is a rare peripheral nerve tumor of the orbit, the diagnosis of which can only be made with certainty by histopathological examination. We report our experience on the clinical, imaging, and surgical aspects of orbital schwannomas based on our series of six patients. PATIENTS AND METHODS: We retrospectively reviewed the records of six patients managed at our institution for orbital schwannoma. The age, sex, presenting clinical signs and symptoms, pre- and postoperative visual acuities, magnetic resonance imaging (MRI) features, the surgical techniques employed, and the pitfalls encountered were recorded. RESULTS: There were three female and three male patients. The mean age at diagnosis was 39.5 years. Decreased visual acuity and proptosis were the most common presenting signs. MRI studies showed that schwannoma was hypointense on T1- and slightly hyperintense on T2-weighted images. With the exception of degenerated or myxoid parts of the tumor, there was variable enhancement following gadolinium injection. The tumor was totally removed via the transconjunctival approach in five patients and through a subbrow cutaneous incision in one patient. There was no recurrence during a mean follow-up of 2.2 years. CONCLUSION: Most orbital schwannomas, whether intraconal or extraconal, can be safely excised through the transconjunctival approach. Meticulous dissection is mandatory to separate the tumor from its surroundings. Cryoextraction may not be advisable because of the risk of fragmentation of the tumor due to its weak pseudoencapsulation.

[Mycosis fungoides of the eyelids. Two case reports]. / Mycosis fongoïde des paupières. A propos de deux cas.

Mycosis fungoides is a distinct variant of cutaneous T cell lymphoma. We describe two male patients presenting with the third stage of the disease at the age of 56 and 67 years. The patients had large, patchy pigmented tumors all over the face and eyelids. Incisional biopsy from the lid skin revealed full-thickness involvement of the dermis by malignant lymphocytes, angiotropism, and rare figures of epidermotropism. Immunohistochemical studies showed that these malignant lymphocytes expressed CD2, CD3, CD4, CD5, and CD8 antigens but were negative for CD7 antigen. Multiagent chemotherapy and PUVA treatment were administered with limited successful outcome on their cutaneous lesions. Both patients died from problems related to the progression of the systemic disease. These two cases demonstrate the poor prognosis of the tumor stage because of strong association with widespread systemic involvement and emphasize the need for early diagnosis.

[Multiple bilateral retinomas. A case study]. / Rétinomes multiples et bilatéraux. A propos d'une observation.

The case of an asymptomatic 29-year-old male patient with bilateral multiple retinomas is described. Initially misdiagnosed as unilateral pathological myopia 10 years earlier, his ocular tumors were recognized only when examined after detection of bilateral retinoblastoma in his daughter. There was a large gray translucent mass and extensive chorioretinal atrophy in the right fundus and four small discrete tumors in the nasal periphery of the left fundus. There was no progression over 4 years of follow-up. Timely and correct diagnosis of retinoma is essential for appropriate genetic counseling, which would minimize the risk of retinoblastoma in future generations.

Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.

BACKGROUND: Leber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early childhood. Recent molecular genetic studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, RPGRIP1, TULP1, LCA3, LCA5, and LCA9) to LCA. LCA5 is a new locus, which maps to the 6q11-q16 chromosomal region and was found to be associated with macular coloboma-type LCA in a Pakistani family. Herein, we describe the molecular genetic features of a consanguineous Turkish family in which four children have macular coloboma-type LCA. METHODS: Haplotype analysis was performed on the DNA of the family members using microsatellite markers against GUCY2D, RPE65, and LCA5. Genomic DNA was screened for mutations by means of single-strand conformational polymorphism (SSCP) analysis in exons of the RPE65 and CRX genes. RESULTS: In haplotype analysis, no linkage to LCA5 or GUCY2D loci was detected. None of the tested markers showed homozygosity or segregation between affected siblings. PCR-SSCP mutation analysis revealed no mutations in the screened RPE65 and CRX genes. CONCLUSION: We excluded LCA5 as the genetic cause of macular coloboma-type LCA in this Turkish family. Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma.

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.

[Ciliary body leiomyomas. Three case reports]. / Léiomyome du corps ciliaire. A propos de trois cas.

We present our experience with three patients, two of whom were women, 16, 28 and 44 years of age, presenting with leiomyomas of the ciliary body. Salient clinical features were involvement of the left eye and temporal quadrants in two cases and extension into the anterior chamber in the other. Two patients underwent enucleation and the third had iridocyclochoroidectomy. Immunohistochemical studies showed strong positivity for muscle-specific actin, smooth muscle actin and desmin, whereas staining against vimentin, HMB-45 and S-100 protein was negative. Although there are no specific clinical or imaging signs for intraocular leiomyoma, this tumor should be suspected when pigmented ciliary body tumors are encountered, especially in young female patients.

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.

Tumour-lysis-related elevation of intraocular pressure following high-dose rate brachytherapy for choroidal melanoma.

PURPOSE: To describe the clinical course and management of acute tumour lysis-related intraocular pressure (IOP) elevation, which is a rare late complication of brachytherapy for choroidal melanoma. METHODS: Seven patients out of 36 treated with Iodine-125 brachytherapy were identified who had in common: an uneventful latent period with continuing tumour regression, ended by a sudden massive release of pigmented debris in association with elevated IOP without iris neovascularization. Medications that reduce aqueous production (timolol, dorzolamide, betaxolol, and acetozolamide) were used in combinations to lower IOP. RESULTS: Tumour lysis developed after a mean period of 17.4 months. IOPs ranged between 28 and 35 mmHg, which normalized in a mean period of 10.7 months under topical medications. The seven patients were inadvertently prescribed apical dose rates ranging between 118.3 to 289.16 cGy/h that were significantly higher than the rest of the group (P = 0.000). This complication did not develop in patients whose apical dose rates did not exceed 109 cGy/h. CONCLUSIONS: Acute tumour lysis associated with an elevated IOP after brachytherapy appears to be related to large tumour size and high dose rates. IOP can be lowered by topical medications but visual prognosis is poor. There is no evidence of any effect on overall prognosis of tumour lysis, elevation of IOP, or its treatment.

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. (Eur J Ophthalmol 2004; 14: #-9).

[Macular coloboma type Leber's congenital amaurosis]. / Amaurose congénitale de Leber de type colobome maculaire.

Three brothers, with the macular coloboma type Leber's congenital amaurosis aged 10, 8, and 6 years respectively, are described in this report. Only the two elder brothers were symptomatic while the third patient had no complaint at the time of diagnosis. The patients had no associated systemic or ocular disorders, including nystagmus. They had mild myopic astigmatism. All three had a relatively well-circumscribed bilateral macular atrophy with a seemingly normal peripheral retina. The electroretinogram was non recordable but the visualy evoked potential responses were within normal limits. During three years of follow-up, the macular lesions did not progress and the visual acuity did not deteriorate further. Our experience with these three familial cases supports the general view that the macular coloboma variant does not necessarily have the typical signs and symptoms and perhaps also the dismal prognosis of classic Leber's congenital amaurosis, and as such should stand as a distinct subtype of the disease.