[Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1)]. / L'atteinte orbito-temporo-faciale dans la neurofibromatose de type 1 (NF1).

Plexiform neurofibromas of the orbit, sometimes extending to the temporal region and the face, are considered to be a rare but devastating and disfiguring complication of neurofibromatosis type 1. The first symptoms appear in infancy and the involvement of the orbit and the face is present in nearly all children after the age of 5. The disease is unilateral in most cases but can exceptionally involve both sides of the face. Progressive deformation of the orbital frame due to the expanding plexiform neurofibroma and buphthalmos occurs in a large proportion of cases. The associated sphenoidal dysplasia, which is thought to be, according to the most recent hypothesis, genetically determined, will inescapably increase the burden to the orbital content, cause pulsating proptosis and will endanger noble structures, finally resulting in loss of vision. Using the Jackson classification, the authors report their personal series of 22 cases (19 operated). Until now, there has been no effective medical treatment for plexiform neurofibroma and surgery remains the standard care for these patients. Controversies remain about the timing of the first operation and today most multidisciplinary teams involving plastic, maxillofacial, ophthalmologic, and neurosurgeons favor early intervention to try to minimize the secondary deformation of the orbital and facial skeleton. A number of cases of plexiform neurofibromas are illustrated within the three Jackson groups and treatment results of the rare elephantiasis neuromatosa cases are presented. Special techniques such as preoperative embolization of heavily vascularized plexiform neurofibroma are also discussed.

Clinical results of autologous infrainguinal revascularization using grafts originating distal to the femoral bifurcation in patients with mild inflow disease.

AIM: Chronic critical limb ischemia (CLI) often requires venous bypass grafting to distal arterial segments. However, graft patency is influenced by the length and quality of the graft and occasionally patients may have limited suitable veins. We investigated short distal bypass grafting from the superficial femoral or popliteal artery to the infrapopliteal, ankle or foot arteries, despite angiographic alterations of inflow vessels, providing that invasive pressure measurement at the site of the planned proximal anastomosis revealed an inflow-brachial pressure difference of

Primary lymphoma of the lacrimal sac: an EORTC ophthalmic oncology task force study.

AIM: To define the clinical and histopathological characteristics of primary lacrimal sac lymphoma in a predominantly white population. METHODS: Specimens of lacrimal sac lymphoma and follow up data were solicited from members of the Ophthalmic Oncology Task Force of the European Organization for Research and Treatment of Cancer (EORTC) and the European Ophthalmic Pathology Society (EOPS). Specimens were stained with haematoxylin and eosin and an immunohistochemical panel against leucocyte antigens was applied. Diagnosis was reached by consensus of five experienced pathologists according to the World Health Organization classification system. The histopathological findings were correlated with the clinical data. RESULTS: Of 15 primary lacrimal sac lymphomas, five (33%) were diffuse large B cell lymphoma (DLBCL), five (33%) were extranodal marginal zone B cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma), three were classified as "transitional MALT lymphoma," being in transition from MALT lymphoma to DLBCL, and two were unclassified B cell lymphomas. Nine of the patients were female, and the median age at the time of diagnosis was 71 years (range 45-95 years). The most frequent presenting symptoms were epiphora (85%), swelling in the region of the lacrimal sac (79%), and dacryocystitis (21%). All but one patient presented in stage I. Systemic spread occurred in three of nine patients (33%). The 5 year overall survival was 65%. CONCLUSIONS: DLBCL and MALT lymphoma are equally common in the lacrimal sac in contrast with the remaining periorbital and/or orbital region where MALT lymphoma predominates.

[Quality of life after superficial femoral vein harvest for infra-inguinal reconstructions]. / Evaluation de la qualité de vie après prélèvement de la veine fémorale superficielle lors de reconstructions infra-inguinales.

BACKGROUND: The superficial femoral vein (SFV) is a well-established alternative conduit for infra-inguinal reconstructivenous hypertension after SFV harvest may however result in significant morbidity. This study reports the efficiency of SFV as conduit for infra-inguinal reconstructions and characterize the anatomic and physiologic changes in harvest limbs and their relationship to the development of venous complications. METHODS: From May 1999 through November 2003, 23 SFV were harvested from 21 patients undergoing infra-inguinal reconstructions. Bypasses were controlled by regular duplex-ultrasound. The venous morbidity was assessed by measurements of leg circumferences, strain-gauge plethysmography and quality of life, investigated by the VEINES-QOL scale. RESULTS: At a mean follow-up of 10.4 months (range 1-56), primary, secondary patency and limb salvage rates of infra-inguinal bypasses using SFV are 71.4%, 76.2% and 85.7% respectively. No patient had major venous claudication. Oedema was significantly present in nine patients. Strain-gauge plethysmography showed outflow obstruction in all patients. The VEINES-QOL assessment showed no limitation in social and domestic activity, moderate complain about leg heaviness despite presence of oedema. CONCLUSION: The SFV harvest is a reliable conduit for infra-inguinal reconstructions and results in moderate venous morbidity in terms of functional consequences and quality of life.

[Venous thromboembolic disease in adolescents]. / La thrombose veineuse profonde chez l'adolescent.

Deep vein thrombosis in children and adolescents is a quite rare event. Risk factors most often associated with DVT in this particular population are: central vein catheters, neoplasia, vascular malformations and oral contraception. Diagnosis and management of DVT in adolescents does not differ greatly from that of adults. Compression ultrasound is the initial exam of choice. Hospitalization is often not necessary and treatment can be started by using low molecular weight heparin followed by oral anti-vitamin K antagonists. Thrombophilia screening is not routinely recommended and should be reserved for those patients for whom results would change therapeutical management.

[Drug addicts as cardiovascular patients]. / Le toxicomane, un patient "polyvasculaire".

Drug addicts very often present with vascular complications. A great number of these lesions require medical care. Vascular problems are diverse and multiple affecting both veins and arteries, the latter being often the most dramatic. This article attempt to describe the most frequent lesions observed in drug addicts considering two different mechanisms; traumatic versus drug induced complications.

[Update of orbital rhabdomyosarcoma therapy in children]. / La thérapie actuelle du rhabdomyosarcome orbitaire de l'enfant.

INTRODUCTION: Rhabdomyosarcoma is the most frequent primitive orbital malignant tumor in children. If the treatment is started as soon as possible after discovery of the disease, the vital prognosis is considerably better than otherwise. The goal of this paper is to present the new therapeutic protocol and to report our experience in this field. MATERIAL AND METHOD: During the past 35 years, 102 cases of orbital tumors were collected in children under 15 years of age: 5 cases of rhabdomyosarcoma were cared for in our department. At the time of tumor diagnosis, the age of our patients ranged from 3 weeks to 13 years. After a biopsy or excision biopsy, all our cases were treated by chemotherapy with or without radiotherapy. Medication was mostly vincristine, ifosfamide and actinomycine D. When the result of the treatment was not satisfactory, carboplatine and epirubicine, vincristine as well as ifosfamide were given. Radiotherapy was performed only in particular cases or in recurrences. CONCLUSION: Rhabdomyosarcoma is a highly malignant tumor. Although rare, it is the most frequent of malignant tumors in children. It is important to keep it in mind in order to perform a biopsy enabling quick diagnosis and treatment following the modern protocol giving the highest chances of survival to these patients: about 98% in 3 years.

[Emergencies in nontraumatic orbital diseases]. / Urgences en pathologie orbitaire non traumatique.

INTRODUCTION: Nontraumatic orbital diseases only exceptionally require emergency treatment. In this paper an emergency is considered when the diagnosis and/or treatment must be done within a maximal period of 1 week. MATERIALS AND METHODS: All patients with nontraumatic orbital diseases from the Department of Ophthalmology of the University of Lausanne and from the office of one of the authors (N.D.) over the last 35 years were studied, in view of their degree of emergency. Data from 77 patients (28 females and 49 males), aged from birth to 85 years, were collected. RESULTS: Idiopathic inflammations of the orbit (pseudotumors) were the most frequent diagnoses seen as an emergency, followed by rhinological diseases with orbital consequences (exteriorized sinusitis or mucoceles), dysthyroid orbital pathologies, bleeding in lymphangiomas and varices, rhabdomyosarcoma, and acute dacryoadenitis. Fast progressive proptosis, oculomotor disorders, and pain are the most frequent alarm signals. After the diagnostic procedure, a surgical or medical treatment is frequently proposed. CONCLUSION: Although rare, emergencies in orbital diseases are a challenge for the general ophthalmologist. The morbidity and sometimes the mortality due to these diseases are often reduced by proper management. Patients generally have to be referred to a specialized unit.

[Follow-up of patients suffering from age-related macular degeneration, supplied with visual aids]. / Suivi des patients atteints de dégénérescence maculaire liée à l'âge équipés d'aides visuelles.

BACKGROUND: Age-related macular degeneration (AMD) is at present the major cause of legal blindness in industrialized countries. The results of various treatments are often not satisfactory and follow-up by Low-Vision services is then the only solution for this population. Few studies have been published on this subject. The purpose of this study is to present the use of magnifying systems and the degree of satisfaction obtained for this series of patients 6 months after prescription. PATIENTS AND METHODS: Forty-four patients were examined, 42 of whom were eligible for the study. Lenses, magnifying glasses, visual systems for intermediate distance, and electronic systems were proposed. A low-vision training was given to every patient. RESULTS: The highest degree of use and satisfaction was achieved with the electronic systems. In some cases, however, the other systems were well accepted by the patients. CONCLUSION: The follow-up of patients with age-related macular degeneration is of great social importance. The independence of elderly people can be safeguarded thanks to the help of Low-Vision services with a good equipment and a well-trained team. Sometimes, unsophisticated systems such as magnifying glasses can be proposed, but the best results are mostly obtained through electronic systems (TV).

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.

PURPOSE: To identify the genetic defect for the Coppock-like cataract (CCL) affecting a Swiss family, which defect was unlinked to the chromosome 2q33-35 CCL locus. METHODS: A large family was characterized for linkage analysis by slit lamp examination or by the review of drawings made before cataract extraction. The affection status was attributed before genotyping, and the genotyping was masked to the affection status. Two-point and multipoint linkage analyses were performed using the MLINK and the LINKMAP components of the LINKAGE program package (ver. 5.1), respectively. Mutational analysis of candidate genes was performed by a combination of direct cycle sequencing and an amplification refractory mutation system assay. RESULTS: Ten individuals were affected with the CCL phenotype. The disease was autosomal dominant and appeared to be fully penetrant. A new CCL locus was identified on chromosome 22q11.2 within a 11.67-cM interval (maximum lod score [Zmax] = 4.14; theta = 0). Mutational analysis of the CRYBB2 candidate gene identified a disease-causing mutation in exon 6. This sequence change was identical with that previously described to be associated with the cerulean cataract, a clinically distinct entity. CONCLUSIONS: The CCL phenotype is genetically heterogeneous with a second gene on chromosome 22q11.2, CRYBB2. The CCL and the cerulean cataract are two distinct clinical entities associated with the same genetic defect. This work provides evidence for a modifier factor that influences cataract formation and that remains to be identified.

[Non-traumatic orbital diseases in Lausanne from 1965 to 1996]. / Les affections orbitaires non traumatiques à Lausanne de 1965 à 1996.

PURPOSE: Describe our series of patients with non-traumatic orbital diseases. PATIENTS AND METHODS: A series of patients with non-traumatic orbital diseases seen in Lausanne from 1965 to 1996. RESULTS: Inflammatory conditions and infections were the most frequently observed diseases. Pseudotumors were the most representative. Orbital involvement in systemic diseases (for example Graves' disease), vascular tumors and malformations, as well as orbital involvement in rhinological diseases were also often observed. Orbital cysts, particularly dermoid and epidermoid cysts, and orbital diseases of nervous origin were exceptional. Finally, diseases of the lacrimal gland, metastases, secondary tumors from adjacent structures and diseases of mesenchymal origin were more rare. DISCUSSION: This study also reports the proportion of male and female patients and the percentage of proptosis.

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

PURPOSE: The RHO C110Y mutation has been recently reported to cause a phenotypically unspecified form of autosomal dominant retinitis pigmentosa (adRP). The study of a family affected with this mutation allowed us to hereby describe the genotype/phenotype correlation associated with the RHO C110Y mutation. METHODS: A six-generation pedigree cosegregating adRP and RHO C110Y in ten accessible individuals was ophthalmologically investigated. All family members affected with RP went through complete eye examination and ERG testing. RESULTS: The disease first manifested with nyctalopia during adulthood and slowly progressed over the next decades towards tubular visual field defects and relatively preserved central vision. Ophthalmoscopically, the fundus remained almost unaltered until the end of the third decade of life, and then slowly progressed towards typical RP changes with minimal macular involvement by the eighth decade. Color vision remained unaltered. Earliest ERG alteration was limited to the rod system followed by a rod-cone pattern. Scotopic and photopic ERG were recordable until the fourth and sixth decades, respectively. DISCUSSION: RHO C110Y-associated adRP is characterized by a late onset and a mild progression compatible with type 2 or regional RP with little intrafamilial phenotypic variability and complete penetrance. Characterization of genotype-phenotype correlations plays a role in the improvement of genetic and prognostic counselling.

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies]. / Depistage mutationnel des genes de la peripherine/RDS, rhodopsine et ROM-1 dans 69 cas index de retinite pigmentaire et autres dystrophies retiniennes.

PURPOSE: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases. PATIENTS AND METHOD: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1. RESULTS: the most frequent type of RP among our population was the autosomal dominant (43.6%). Three RHO mutations were found among the RP patients. A RDS mutation was detected in three unrelated families segregating dominant macular dystrophy. DISCUSSION AND CONCLUSIONS: 18% of the autosomal dominant RP patients presented a RHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.

[Management of children with low vision]. / La prise en charge des enfants malvoyants.

Presentation of the Lausanne school for blind and visually impaired children. 38 children were admitted in the school in 1996-1997. 16 have a visual acuity of less than 3/60. Ocular malformations of various origins are the main reason of the handicap, followed by visual lesions of central origin. Comparing the study with those of 1992 and 1993, it seems that the number of retrolental fibroplasia and cataracts (operated or not) is decreasing. The authors present the educational care of these children. At present, the goal is to maintain the children in their own family. Most of them are day pupils and the transportation organisation is therefore very important. In special cases, it is possible to leave the children in a non-specialized school, provided the children receive a good educational support by one of our specialized low-vision teachers.

[Rhino-orbito-cerebral mucormycosis: clinical presentation]. / Mucormycose rhino-orbito-cérébral: présentations cliniques.

BACKGROUND: Rhino-orbito-cerebral mucormycosis is an opportunistic rapidly progressive infection affecting almost exclusively diabetic or immunocompromised patients. CASE REPORTS: Three cases are reported. For one patient mucormycosis was the first manifestation of juvenile diabetes and the evolution was favorable. In the second case the infection affected a known diabetic patient and the clinical course was fatal. The third patient was immunocompromised, showed mild clinical features and a rapidly fatal evolution, the diagnosis being made only postmortem. CONCLUSION: These three cases illustrate the wide clinical spectrum of rhino-orbito-cerebral mucormycosis, its serious nature and difficult diagnosis.

[Ocular lesions due to diabetes]. / Les lésions oculaires dues au diabète.

The main ophthalmological diabetic complications are reviewed, viz. oculomotor disturbance or deviation, optic neuropathy, rubeosis iridis leading to neovascular glaucoma, cataract, and diabetic retinopathy, which is particularly frequent. A brief overview of these various types is presented. The current methods of treatment, which serve to avoid blindness for most patients, are described.

[Orbital metastasis]. / Les métastases orbitaires.

PURPOSE: The purpose of this paper is to present our data and to provide some conclusions about the attitude that has to be chosen when metastasis of the orbit is suspected. PATIENTS AND METHODS: Between 1965 and 1994, 571 patients with non-traumatic orbital diseases were controlled in the department of ophthalmology of Lausanne. Thirty-four cases of metastasis of the orbit were selected, that is 24 females and 10 males, aged from 1 to 81 years. Tumors of the breast are the most frequent origin of this metastasis, followed by cutaneous melanomas and pulmonary tumors. Orbital metastasis was the first sign of a malignant process in 7 patients. The histologic diagnosis was confirmed in 15 patients. The type of treatment is presented herein and the follow-up of more than half of the cases is given. RESULTS AND CONCLUSION: Orbital metastasis can develop after a long time in patients who were previously treated for malignant tumors. In several cases, orbital metastasis was the first sign of a malignant process which starts to become general. This diagnosis has to be taken into account when a patient was treated earlier for a malignant tumor, and it is reasonable to propose a biopsy or an excision biopsy in every orbital pathology which was not confirmed by clinical or paraclinical investigations.