Inferior oblique muscle recession with and without superior oblique tendon tuck for treatment of unilateral congenital superior oblique palsy.

PURPOSE: To compare the surgical results in patients with congenital superior oblique palsy treated with inferior oblique recession (IOR) versus those treated additionally with superior oblique tendon tuck (IOR+SOT). METHODS: A consecutive, nonrandomized series of patients with congenital superior oblique palsy with vertical deviations in adduction between 10° and 20° were retrospectively reviewed. In the first series, patients were treated with IOR; in the second series, patients were treated with IOR+SOT. We examined the effects of surgery on binocular alignment and on the field of binocular single vision. RESULTS: Each group consisted of 20 patients. Preoperative ocular deviations were similar in both groups. Postoperative residual vertical deviations were not different in the primary position or in downgaze; however, significantly better alignment was achieved in the IOR+SOT group in adduction and downgaze in adduction. Consecutive Brown pattern occurred in 18 of 20 patients who underwent IOR+SOT versus 5 of 20 who underwent IOR. Residual torsion was not statistically different. The field of binocular single vision improved to 92% (range, 28%-100%) after IOR and to 96% (range, 64%-100%) after IOR+SOT (P = 0.20). CONCLUSIONS: IOR alone is a suitable procedure for most congenital superior oblique palsies with a moderate-to-large vertical deviation in adduction, resulting in a lower incidence of consecutive Brown pattern than with IOR+SOT.

Absence of the fourth cranial nerve in congenital Brown syndrome.

PURPOSE: To elucidate the aetiology of congenital Brown syndrome. METHODS: Four consecutive patients diagnosed with unilateral congenital Brown syndrome had a comprehensive standardized ocular motility examination. Any compensatory head posture was measured. Brain magnetic resonance imaging (MRI) with regard for the IV cranial nerve (CN) was performed in all patients. Orbital MRI was performed in 2/4 patients, with images acquired in eight directions of gaze and superior oblique (SO) muscle areas compared. RESULTS: CN IV could not be identified bilaterally in two patients, but was absent only on the side of the Brown syndrome in the two other patients. On the normal side, orbital MRI revealed a smaller SO muscle area in upgaze than in downgaze, demonstrating normal actions of this muscle. On the side of the Brown syndrome, the SO area remained the same in upgaze and in downgaze and approximately symmetric to the area of SO in downgaze on the normal side. CONCLUSIONS: These cases add further anatomical support to the theory of paradoxical innervation in congenital Brown syndrome. CN IV was absent in two patients on the side of the Brown syndrome, but without muscle hypoplasia. SO muscle size did not vary in up- and downgaze, which we interpreted as a sign of constant innervation through branches of CN III.

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

BACKGROUND: Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders. METHODS: Altogether, 29 patients with different congenital ocular motility disorders and a positive family history of congenital ocular motility disturbances or strabismus or bilateral affection or accompanying congenital disorders were enrolled in this study. DNA samples of patients suffering from DRS (n = 5), Brown syndrome (n = 13), other congenital motility disorders of the oblique eye muscles (n = 6), double elevator palsy (n = 4), and vertical retraction syndrome (n = 1) were investigated by direct sequencing of all coding exons of CHN1. RESULTS: In the families of our index patients with DRS, other family members displayed DRS, see-saw nystagmus, infantile esotropia, microtropia, or Brown syndrome, respectively. In the families of our patients with cases of Brown syndrome, bilateral abduction deficiency, infantile esotropia, and unspecified strabismus occurred. The patients with congenital disorders of the oblique muscles and with congenital elevation deficiencies other than Brown syndrome had relatives with ptosis, infantile esotropia, DRS, congenital abduction deficiency, and unspecified forms of strabismus. Thus a considerable intrafamilial overlap between different types of congenital forms of motility disorders and strabismus does exist. No mutations were detected in the CHN1 gene in our patients. In addition to known polymorphisms, we identified four novel heterozygous single-nucleotide substitutions, one in the 5'UTR, two in intronic regions, and one in the coding region leading to a synonymous amino acid substitution. CONCLUSIONS: We found no evidence for a causative involvement of CHN1 mutations in congenital ocular motor anomalies different from autosomal dominant Duane's retraction syndrome and provide further evidence for genetic heterogeneity in familial forms of DRS.

Treatment and long-term outcome of patients with orbital cavernomas.

PURPOSE: To evaluate the long-term prognosis of visual function in patients with orbital cavernomas after conservative and surgical treatment. DESIGN: Interventional case series. METHODS: The authors describe the outcome of 20 patients with cavernous hemangiomas of the orbit treated in their departments between 1988 and 2003. This prospective study included five cases followed by clinical and radiologic observation and 15 cases of symptomatic tumors that were completely removed by means of a frontotemporal or by means of a transconjunctival approach. The clinical characteristics of orbital cavernomas were analyzed together with their appropriate treatment. Furthermore, the authors present the unusual case of a patient suffering from progressive visual deterioration from a cerebral cavernoma compressing the optic nerve. RESULTS: The follow-up period was between 3 and 10 years. All orbital cavernomas in the group of conservatively managed patients remained stable. The transconjunctival excision of a medially located lesion was uncomplicated. The frontotemporal approach was chosen for large tumors situated in the proximity of the orbital apex and was associated with a higher number of complications. A good overall outcome of visual function and patient satisfaction was achieved in 11 of 14 cases operated on by craniotomy. CONCLUSION: The combination of clinical signs and magnetic resonance imaging (MRI) is highly sensitive and specific for the diagnosis of orbital cavernomas. In the presence of visual deterioration clearly attributable to the tumor we recommend immediate surgery, while lesions producing solely exophthalmos can safely be followed by observation. The transcranial approach offers excellent exposure and a rewarding cosmetic result and may be considered for large lesions superior and medial to the optic nerve, especially if they involve the orbital apex.

Ptosis from localized A-lambda-amyloid deposits in the levator palpebrae muscle.

PURPOSE: To describe a patient with unilateral ptosis caused by localized amyloid deposits of immunoglobulin lambda-light chains (A-lambda-amyloid) in the levator palpebrae muscle. STUDY DESIGN: Case report and literature review. PARTICIPANT: A 32-year-old otherwise healthy female with right-sided unilateral ptosis. METHODS: The patient presented with right-sided unilateral ptosis without other ocular abnormalities. Palpebral fissures measured 5 mm on the right side and 8 mm on the left. Systemic evaluation, including neurologic and neuroradiologic examinations, was normal. RESULTS: Several years after initial presentation, conjunctival amyloid deposits appeared. Ptosis surgery with resection of the levator muscle was performed, revealing massive deposits of A-lambda-amyloid in the excised tissue. CONCLUSIONS: Our patient had unilateral ptosis due to localized A-lambda-amyloid deposits in the levator muscle. No other amyloid deposits were initially found. Visible conjunctival deposits developed only years later. Ocular amyloidosis with isolated initial involvement of the levator muscle is a rare condition. Localized monoclonal gammopathy may have been the cause of this unique presentation.

Bilateral tonic pupils with evidence of anti-hu antibodies as a paraneoplastic manifestation of small cell lung cancer.

INTRODUCTION: Ophthalmological manifestations of systemic malignancies can be either direct, metastatic or paraneoplastic. The latter are remote effects of carcinoma, often caused by autoantibodies. Ophthalmological manifestations include cancer-associated retinopathy, melanoma-associated retinopathy, opsoclonus-myoclonus syndrome or motility disorders due to effects on the neurological system. A unilateral tonic pupil is usually a benign finding but has also been described in the context of paraneoplastic syndromes, in some cases associated with anti-Hu antibodies. CASE REPORTS: The authors describe 2 patients with bilateral symptomatic tonic pupils due to a paraneoplastic syndrome. Both patients had been treated for small cell lung cancer and had evidence of anti-Hu antibodies (autoantibodies against nuclei of neural cells) in serum and cerebrospinal fluid. Both had typical pupillary findings and hypersensitivity to diluted pilocarpine. The first patient also had sensory neuronopathy, the second affection of several cranial nerves. DISCUSSION: To the best of our knowledge, to date no case of bilateral tonic pupils has been published due to a paraneoplastic disorder with evidence of autoantibodies. This is surprising, as it is probable that autoantibodies in paraneoplastic disorders affect both ciliary ganglions in a similar way.

Effectiveness of a new perforated 0.15 mm poly-p-dioxanon-foil versus titanium-dynamic mesh in reconstruction of the orbital floor.

Introduction: In recent years a new perforated PDS (poly-p-dioxanon) foil (0.15 mm) has become available and has not yet been proven to be successful in reconstruction of the orbital floor after blow-out-fractures in randomized studies. The main aim of this clinical trial is to compare this new PDS foil with titanium dynamic mesh (0.3 mm) (TD), which is well established in reconstruction of the orbital floor. Patients and Methods: In a prospective multicentre randomized trial, conducted between 1997 and 1998, out of 42 patients with fractures of the orbital floor, 28 patients needing material for reconstruction were randomized to receive either PDS foil or TD. In a comprehensive preoperative and postoperative protocol patients were monitored by the surgeon, radiologist and ophthalmologist with a postoperative follow-up of least 6 months. Results: Maximum defects of the orbital floor were comparable in both groups (PDS group: 13.3 mm, TD group: 13.9 mm). In both groups the surgical procedure was well tolerated, and functional and cosmetic results were evaluated as satisfactory by all patients. Ophthalmological evaluation, performed up to 6 months postoperatively, revealed double vision or vertical strabismus in nine patients (five PDS group, four titanium group). This was not confirmed subjectively in each single patient. Also ex- or enophthalmos, registered in seven patients of the PDS and four of the TD group (mainly +/-1 mm) were not considered as relevant by the patients. Conclusion: The new 0.15 mm perforated PDS foil was comparable to 0.3 mm titanium mesh concerning functional and cosmetic outcome. Obviously, persisting ophthalmometric disorders were compensated very well in both groups. PDS foil is felt to be the preferred material since it is bioresorbable and more convenient to handle. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.