[Propranolol therapy for periocular and orbital infantile haemangiomas]. / Propranolol-Therapie bei infantilen Hämangiomen im Lid- und Orbitabereich.

In spite of the self-limiting natural course of infantile haemangiomas of the eyelids and orbit, the effects of amblyopia, compression of the optic nerve, and impairment of the aesthetic appearance may develop. Since the serendipitous discovery of the effects of propranolol, a non-selective beta-blocker, on infantile haemangioma in 2008, it has largely replaced the former standard treatments with corticosteroids, laser or surgical procedures. This review discusses the pathogenesis, classification, indication for treatment, and treatment options for infantile haemangiomas. In addition, the results of patients with infantile haemangiomas of the eyelids and orbit treated with systemic propranolol are shown. With additional confirmation of data, including a positive effect-risk-analysis, propranolol will potentially replace high-dose corticosteroids and surgery in the treatment of infantile haemangiomas in the eyelids and orbit. Further clinical studies are necessary to optimise the dosage, treatment period, and application modalities (oral or topical). In the future, propranolol accompanied with paediatric-cardiological monitoring should emerge as the first-line therapy for problematic infantile haemangiomas.

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the FREM1 gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic FREM1 mutation have previously been documented. We report on a new male patient, 3.5 months old, with MOTA syndrome, who presented with the following features: bilateral incomplete cryptophthalmos with a completely fused, ill-defined upper eyelid and a keratinized cornea, hypertelorism, a broad tip of the nose, a circle-shaped whirl of hair on the forehead, and a low anorectal malformation, which could be corrected on day 2 of life without a colostomy. In expansion to the previously reported phenotype of MOTA syndrome, the patient showed characteristic features reported in patients with Fraser syndrome, including dysplastic ears, cutaneous syndactyly 3/4 of the hands and syndactyly 2/3 of the right foot. Molecular analysis of FREM1 identified compound heterozygosity for a new frameshift deletion in exon 24 (c.4629delC, p.F1544SfsX62) and a previously reported missense mutation in exon 21 (c.3971T>G, p.L1324R). This report further extends the phenotype of MOTA syndrome and underscores the overlapping clinical spectrum of FRAS-FREM complex diseases.

Meningiomas involving the sphenoid wing outcome after microsurgical treatment--a clinical review of 73 cases.

OBJECTIVE: Sphenoid wing meningiomas represent a difficult to access subtype of intracranial meningiomas involving important neurovascular structures such as the optic nerve, cavernous sinus or carotid artery. They cause neurological compromises by direct compression of adjacent cranial nerves. Insidious and aggressive dural, bony, and orbital involvement produces several difficulties for adequate resection leading to higher rates of recurrence. METHODS: This retrospective case analysis consists of 73 patients who were surgically treated for meningiomas involving the sphenoid wing, where a pterional approach was performed between April 2001 and February 2006. 51 women and 22 men with a mean age of 59.4 years were operated on. The follow-up period ranged from 3-75 months (mean 29.8 months). Patients were divided into the following groups based on the site of the tumor: group 1: outer part of the sphenoid ridge (lateral, n=16); group 2: middle part of the sphenoid ridge (intermediate, n=5); group 3: inner part of the sphenoid ridge (medial, n=22); and group 4: spheno-orbital meningioma (n=30). RESULTS: The majority of patients presented with visual impairment (55%), followed by generalized headaches (36%) and visual field defects (33%). Total microscopic tumor resection was achieved in 35 patients (47.9%). Visual acuity improved in 58% of the patients, with 23% returning to normal vision. Preexisting cranial nerve deficits remained unchanged in the majority of patients (79%) and improved in 18%. Temporary new cranial nerve deficits occurred in 6 cases, and 1 patient (1%) developed permanent third nerve palsy. The mortality rate was 3% (2 patients) and the rate of permanent nonvisual morbidity was 7% (5 patients). 12 patients (16%) received postoperative radiotherapy. In 6 of 7 patients who were observed for at least 1 year after radiotherapy, stable tumor volume was noted at the follow-up review (mean 30.2 months, range 16-50 months), which provides a tumor growth control rate of 86%. The overall recurrence rate was 15% (11 of 73 patients). CONCLUSION: The result of this study affirms the safety of microsurgical treatment strategies, so that sufficient tumor control can be achieved with minimal morbidity and satisfying functional results in most cases.

[Driving competency after combined treatment with methylprednisolone and orbital radiotherapy for endocrine orbitopathy]. / Fahrtauglichkeit nach kombinierter Methylprednisolontherapie und Retrobulbärbestrahlung bei endokriner Orbitopathie.

OBJECTIVE: Graves' orbitopathy (GO) in its moderate to severe expression is a disfiguring and disabling disease that profoundly influences activities of daily living. Intravenous steroids and orbital radiotherapy are effective treatments for moderate to severe active GO. We examined the ophthalmological outcomes regarding daily life activities, such as driving competency. MATERIALS AND METHODS: In a retrospective case series, we evaluated the data for 21 consecutive patients with moderate to severe and active GO (14 women and seven men) treated with combined orbital radiotherapy (13 Gy) and intravenous methylprednisolone (500 mg weekly for 6 consecutive weeks and 250 mg weekly for consecutive 6 weeks). RESULTS: The pretreatment mean clinical activity score of 5.2 points (SD ± 0.9) decreased significantly to 2.7 points (SD ± 1.1) in the 12-month follow-up. Analysis of all ocular symptoms showed significant changes for four parameters with different time frames. Inflammatory eye signs--e.g., pain and pressure sensation, caruncle inflammation, and eyelid swelling, including exophthalmos--improved significantly within the first 3 months. Eyelid swelling was significantly reduced 6-12 months after therapy. However, there was no significant improvement of eye motility. Despite anti-inflammatory treatment, 11 patients (52.3%) were not fit to drive a car under binocular conditions. In eight of these patients, additional strabismologic therapy, including prisms or strabismus surgery, was successful. CONCLUSION: The combined therapy of intravenous corticosteroids and orbital radiotherapy reduced inflammatory ophthalmological signs in different time frames. In most cases, strabismologic intervention, including eye muscle surgery, was necessary to restore driving competency.

[23-gauge-lentectomy for the treatment of congenital cataract]. / 23-Gauge-Lentektomie zur operativen Behandlung einer angeborenen Katarakt.

BACKGROUND: Congenital cataract surgery can be performed using a pars plana/plicata approach if placement of an intraocular lens at the time of cataract removal is not a consideration. To prevent development of secondary cataract, we performed lens aspiration, anterior and posterior capsulotomy, and anterior vitrectomy via pars plana or pars plicata approach. Lentectomy in babies should be performed using a minimally invasive technique to prevent complications. Immediately after surgery, insertion of a contact lens should be possible. METHOD: The series consisted of 11 eyes of 8 consecutive children who suffered from congenital cataract and underwent pars plana/plicata lentectomy between April 2007 and September 2008. Age at operation ranged from 6 weeks to 13 months (median age 4 months). The inclusion criterion was congenital cataract affecting the visual axis. Lentectomy was performed via a pars plana or pars plicata approach using a special 23-gauge aspiration and irrigation system and a 23-gauge cutter. We performed lens aspiration, anterior and posterior capsulotomy, and anterior vitrectomy. RESULTS: Postoperatively the eyes showed only mild signs of inflammatory reaction. At the end of the operation, all eyes were provided with contact lenses. For all eyes, the surgical technique provided a clear visual axis during the follow-up period of 2-18 months. One eye developed secondary cataract. CONCLUSION: The use of 23-gauge instruments has advantages over standard 20-gauge equipment. Pars plana/plicata lentectomy using 23-gauge instruments is a safe, effective, and minimally invasive method for treating cataract in babies.

Effect of combined intravenous glucocorticoids and orbital radiotherapy in restoring driving competency in patients with Graves' orbitopathy.

Intravenous glucocorticoids and orbital radiotherapy are effective treatments for moderate-to-severe and active Graves' orbitopathy. We examined the ophthalmological outcome in daily life activities, such as driving competency. In a retrospective case series, 23 patients with moderate-to-severe and active Graves' disease (14 women and 7 men) were consecutively treated with combined orbital radiotherapy (13 Gy) and intravenous methylprednisolone (500 mg weekly for 6 consecutive weeks and 250 mg weekly for consecutive 6 weeks). The pretreatment Clinical Activity Score of 5.2 points (SD+/-0.9) decreased significantly to 2.7 points (SD+/-1.1) in the 12-month follow-up. Inflammatory eye signs, for example, pain and pressure sensation, caruncle inflammation, eyelid swelling, and exophthalmos decreased significantly. However, there was no significant improvement of eye motility. Despite anti-inflammatory treatment, 13 patients (61.9%) were not fit to drive a car under binocular conditions and additional stabismologic therapy including strabismus surgery was required. The combined therapy of intravenous glucocorticoids and orbital radiotherapy reduced inflammatory ophthalmological signs. In most cases strabismologic intervention including eye muscle surgery was necessary to restore driving competency.

[Treatment strategies and results of orbital malignancies in childhood]. / Therapiekonzepte und Behandlungsergebnisse maligner Orbitatumoren im Kindesalter.

INTRODUCTION: Each year approximately 1,800 children are diagnosed with cancer in Germany. The orbit is a very rare manifestation site for malignancies in childhood. The most common primary malignant orbital tumour is the rhabdomyosarcoma. Secondary orbital tumours are generally metastases of neuroblastomas or haematological diseases. The five-year survival rate of children with rhabdomyosarcomas has increased to 90 % in the past 30 years due to innovations in radiation and chemotherapy. MATERIAL AND METHODS: A paediatric oncological interdisciplinary approach is taken in the diagnostics and therapy for these rare tumours and is based on therapy optimisation studies that include polychemotherapy, radiation therapy, and surgical treatment. RESULTS: We discuss the current multimodal therapy strategies and results, as well as the role of the ophthalmologist, in the medical care of young patients with malignant orbital tumours, with examples of individual courses of rhabdomyosarcoma, non-Hodgkin's lymphoma, and metastases. CONCLUSIONS: Orbital rhabdomyosarcoma is one of the few life-threatening diseases often first seen by an ophthalmologist. The ophthalmologist's prompt diagnosis and initiation of therapy therefore strongly influences the patient's chance of survival. The role of the ophthalmologist in the medical care of children with orbital malignancies includes a timely clinical diagnosis with histological confirmation, close monitoring of visual functions, the management of ocular complications, as well as long-term follow-up care to detect later therapeutic side effects and/or complications. The treatment of children with suspected tumours is best performed in paediatric oncological centres with access to all necessary specialties in order to ensure rapid diagnosis and therapy.

[Nasal dermoid sinus cyst: accidental coincidence or syndrome association?]. / Nasendermoide bei Peters-Plus-Syndrom: Zufall oder Syndromexpression?

BACKGROUND: Peters anomaly is a rare congenital glaucoma disease. The Peters' plus syndrome is characterized by distinct malformations. As some of the common craniofacial malformations like cleft lip and palate are frequent in Peters' plus syndrome, no nasal dermoid sinus cysts has been reported so far. Nasal dermoid sinus cysts usually present in isolation, although associations to other anomalies or syndromes are possible. The occurrence of such an anomaly may be either accidental, or present a syndrome association. PATIENTS AND METHOD: One patient with an unilateral cleft lip and Peters' plus syndrome had undergone removal of nasal dermoid sinus cyst previously and was referred for management of recurrent disease. Complete surgical removal and plastic reconstruction was performed. RESULTS: Concerning the common (lateral) cleft lip nasal deformity with no midline nasal masses, there are reasons for the assumption that a coincidence of both anomalies might be accidental. Especially in Peters' plus syndrome no occurrence of nasal dermoids has thus far been documented. However, the embryological pathway of the frontonasal region differs from lip and palate development in time and location: So unique formation of both lesions seems inconsistent. Complete surgical removal and plastic reconstruction simultaneously or in a second step are recommended. CONCLUSION: As two cases of arhinia and Peters anomaly have been described in 1978, midline nasal masses might be a possible appearance of Peters' plus syndrome.

Effects of unilateral ocular motor nerve palsies on smooth pursuit eye movements in adult patients.

AIM: The aim of this study was to investigate the influence of single ocular muscle weakness on smooth pursuit eye movements. METHODS: Infrared video recordings of horizontal and vertical eye movements were obtained from 14 adult patients with either unilateral abducens nerve palsy or trochlear nerve palsy. During the recordings, subsequent series of horizontal, vertical and oblique ramp stimuli of 10 degrees/s constant target velocity and +/-10 degrees amplitude were presented under monocular viewing conditions. RESULTS: In both forms of ocular nerve palsies, similar changes of pursuit eye movements were observed in the pulling plane of the paretic muscles. The movements of the covered paretic eye showed the lowest amplitude and gain values as well as the lowest numbers of catch-up saccades. The highest amplitude and gain values were calculated from the movements of the covered sound eye. The highest numbers of saccades, however, were produced by the fixating paretic eye. CONCLUSIONS: We conclude that the fixating paretic eye compensates for the paresis by raising the pursuit gain and the number of catch-up saccades. In the covered paretic eye, however, monocular adaptation is connected with a symmetric low pursuit gain and a reduced number of saccades in the pulling plane of the paretic muscle.

[Secondary reconstruction of the eye socket with a free radial forearm flap]. / Sekundäre Rekonstruktion der anophthalmischen Orbita mit einem Radialislappen.

We report on two patients (38 and 52 years old) suffering from severe post-enucleation socket syndrome (PESS) after enucleation of the bulbus with postoperative irradiation of the orbit due to malignant eye tumors. The secondary reconstruction of the contracted eye socket was performed by a free vascularized radial forearm flap to create a permanent eye socket with augmentation of the content of the orbital space. In the follow-up period of 12 months the patients were able to wear a cosmetically acceptable ocular prosthesis without notable secondary graft contracture. The free vascularized radial forearm flap is an alternative procedure to a dermis fat graft for the secondary reconstruction of the orbit in patients with a severe PESS.

[Granular cell tumor of the orbit]. / Granularzelltumor der Orbita.

Granular cell tumor (GCT, Abrikossoff tumor) is an extremely rare, benign tumor with a neurogenic origin occurring most commonly in the upper aerodigestive tract. GCT of the orbit is a rarity, representing a diagnostic and therapeutic challenge. We report on a 26 year old man suffering from unilateral ocular hypertension and retrobulbar pain. Exophthalmos and disturbance of motility were not noted by the patient. The surgical removal of the GCT, extending into the orbital apex, was performed by an interdisciplinary team using a combination of "midfacial degloving" and LeFort I-osteotomy.

[Leucocoria in childhood]. / Leukokorie im Kindesalter.

BACKGROUND: There are a number of conditions in infants and young children which produce a white reflex in the pupillary area, termed leucocoria. In cases of leucocoria, retinoblastoma has to be excluded without delay. METHODS: We analysed data from consecutive children who were presented to our hospital because of leucocoria between January 1999 and June 2005. The analysis was performed by methods of descriptive statistics. RESULTS: Leucocoria was found in 83 eyes of 58 children. Leucocoria was caused in most cases by congenital cataract (35 %), followed by malformations (18 %) (persistent hyperplastic primary vitreous, coloboma, disc anomaly, combined developmental abnormalities), hereditary vitreoretinal disorders (13 %), retinopathy of prematurity (12 %), trauma-associated diseases (8 %). Five children suffered from retinoblastoma (6 %). Following in frequency were inflammatory disorders (5 %) and Coats' disease (2 %). DISCUSSION: Several ocular conditions of childhood can clinically cause leucocoria. Knowledge of the clinical features that serve to differentiate retinoblastoma from simulating lesions may assist the clinician in arriving at the correct diagnosis.

[Restoration of lid function in peripheral facial palsy by implanting gold weights]. / Rehabilitation der Lidfunktion bei peripherer Fazialisparese mit Goldgewichtimplantaten.

BACKGROUND: Lagophthalmos is a common functional and aesthetic problem in patients with facial palsy. The implantation of a rigid gold weight is one technique to improve eyelid closure. The effectiveness of lid loading was investigated, taking into consideration complications ascribed to rigid implants. PATIENTS AND METHODS: We present 11 patients with facial palsy treated with that technique between April 2001 and October 2005. Before and after operation ophthalmological investigations were performed. The patients were questioned about their subjective satisfaction, and the remaining eye lid gap in the closed state was assessed. RESULTS: A good up to perfect lid closure could be achieved. Of the 11 patients, 9 reported being very contented with the result. Except for one case of extrusion, disturbed healing processes did not occur. We did not observe any occurrence of astigmatism as a result of the rigid lid load. All patients reduced their use of eye ointment and eye covers. We observed a visible bulging of the implant contour in 4 of 11 patients. However, not one of them felt discontented. All patients stated that they would undergo the lid loading procedure again. CONCLUSIONS: The implantation of rigid gold weights for lid loading in patients suffering from lagophthalmos due to peripheral facial palsy is considered a simple and effective treatment for improving eyelid closure. Whether or not flexible implants will lead to better results needs to be further investigated.

[Orbital diseases in childhood]. / Orbitaerkrankungen im Kindesalter.

BACKGROUND: Orbital diseases in childhood are rare and differ from orbital lesions occurring in adults. Most paediatric orbital tumours are benign, but rapid tumour growth can nevertheless threaten vision or lives. PATIENTS: Retrospectively, we analyzed data of 41 consecutive patients with orbital disease, treated in our hospital between 2000 and 2004. The data was evaluated using descriptive statistics and case reports. RESULTS: All children (from neonatals up to 16 years of age) with orbital disease were included in the study. The most common benign disease of the entire collective was an epidermal cyst (n = 18), followed by orbital capillary haemangioma (n = 4) in children under 3 years, and preseptal cellulitis in children older than 3 years. 5 patients were treated for malignant tumours, of which one patient under 3 years had an orbital metastasis of an abdominal neuroblastoma. CONCLUSION: Awareness of orbital diseases in childhood, as a rare entity, is crucial for timely diagnosis and appropriate treatment, to save the vision and lives of affected children.

[Diabolic injury with the localization of foreign bodies in the apex of the intraorbital region ]. / Diabolo-Verletzung mit Lokalisation des Fremdkörpers im Bereich der Orbitaspitze-ein Fallbericht.

BACKGROUND: Air-gun injuries with localisation of the pellet at the apex of the orbital cavity can cause difficult decisions in diagnostics and therapy, especially if you decide to retain the foreign body. METHODS: We report on a 14-year-old boy who was hit by an air-gun pellet. The foreign body went into the left orbit without damaging the globe or the optic nerve. RESULTS: The visual acuity was 1.0, the mobility was only slightly disturbed. A systemic therapy with antibiotics and corticosteroids could stop a series of relapses very well. CONCLUSIONS: Foreign bodies of the orbit can be retained if it is possible to deal with the surrounding reactions properly by conservative therapy.