High-dose intravenous methylprednisolone in juvenile non-infectious uveitis: A retrospective analysis.

Non-infectious uveitis is associated with visual impairment and blindness. Non-biologic treatment for non-infectious uveitis is not based on strong evidence. A retrospective chart review was conducted to investigate treatment response to high-dose intravenous methylprednisolone (IVMP) in children with non-infectious uveitis. Fifty-six patients (93 eyes affected) were included. In 29% uveitis was associated with juvenile idiopathic arthritis. Uveitis predominately affected the anterior segment, was bilateral and recurrent. Complications were common and included visual loss, synechiae, cataract and/or retinal lesions. Patients received up to 5 IVMP at monthly intervals. Visual acuity improved at 3 and 6 months. Anterior chamber cells, synechiae, keratic precipitates, papillary and/or macular edema improved at 3 months. Children treated with ≥3 IVMP (vs 1 IVMP) experienced trends towards fewer relapses, fewer cataracts and less frequently required treatment with biologic agents. High-dose IVMP induce rapid improvement in children with non-infectious uveitis. Prospective randomized trials are required to confirm results.

Yokoyama procedure for esotropia associated with high myopia: real-world data from a large-scale multicentre analysis.

PURPOSE: High myopic patients may develop strabismus due to globe dislocation out of the normal extraocular muscle cone. Surgical correction of this strabismus type is possible by joining the superior and lateral rectus muscles without the need for a scleral suture called the Yokoyama procedure. Data from large patient samples and the evaluation of a potential effect of an additional medial rectus recession (MRR) have been lacking so far. METHODS: We pooled retrospective patient data of 14 departments of ophthalmology in Germany and Switzerland and analysed determinants of postoperative results using multivariable regression models. RESULTS: We included 133 patients (mean age: 59.7 ± 13.4 years, surgery between 2008 and 2017) with a mean preoperative esotropia (both Yokoyama with and without MRR) of 23.8°±4.6°. The angle of preoperative esotropia increased with age. The postoperative esotropia was 8.7° ± 9.9°, and six patients were overcorrected. While preoperative esotropia was highly associated with postoperative results, we found no association of additional MRR with any of our postoperative outcome measures. The Yokoyama procedure had a higher absolute effect in patients with higher preoperative esotropia. CONCLUSION: Our study confirms the positive effect of the Yokoyama procedure on strabismus due to high myopia in large-scale real-world data. In some cases, MRR may be needed because of muscle contracture, although additional MRR statistically did not affect the postoperative outcome. In patients with bilateral high myopic strabismus, correction of both eyes seems beneficial. The effect size of the Yokoyama procedure appears to be mainly driven by preoperative esotropia.

KIF21A variant R954W in familial or sporadic cases of CFEOM1.

PURPOSE: To demonstrate the clinical characteristics and determine mutations in the KIF21A gene, encoding a kinesin motor protein in patients with congenital fibrosis of the extraocular muscles (CFEOM) type 1. METHODS: Patients of five families with congenital fibrosis syndrome and two simplex patients with CFEOM underwent ophthalmologic examination and mutation analysis in the KIF21A gene. RESULTS: Clinical examination and passive motility testing prior to surgery met criteria for CFEOM. All patients had congenital restrictive ophthalmoplegia primarily affecting muscles innervated by the oculomotor nerve. Complete mutation screening in the KIF21A gene revealed the presence of the known and most common recurrent variant R954W in three families and in two simplex cases. Two families demonstrated linkage to chromosome 16. CONCLUSIONS: The patients included in the study had marked restriction of movement bilaterally with nearly complete loss of vertical ocular motility, graded reduction of horizontal motility, ptosis, and compensatory chin elevation. The phenotype was variable in patients carrying the same mutation. In one family, all patients were diagnosed with mental retardation, indicating that this syndrome might not only affect the development of cranial nerves, but can also be responsible for general neurologic dysfunction. The screening data suggest frequent and exclusive appearance of the R454W variant in sporadic and familial cases of CFEOM1 in Germany.

Update on chronic progressive external ophthalmoplegia.

Mitochondrial encephalomyopathies are clinically and genetically heterogeneous disorders. External ophthalmoplegia is the most frequent symptom. Other frequently involved tissues and organs include the retina, heart, limb muscles, peripheral and central nervous system, inner ear and endocrine system. The diagnosis is based on the finding of elevated serum lactate, the characteristic histopathological changes in the muscle biopsy, and decreased activities of mitochondrial respiratory chain enzymes. In many cases, the underlying molecular defect in the mtDNA can be identified. The efficacy of pharmacological therapies (e.g., coenzyme Q) has not been established so far. Symptomatic ophthalmological treatment includes ptosis and strabismus surgery. Early cardiac pacemaker implantation may be life-saving.

[Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)]. / Die kongenitale Fibrose der äusseren Augenmuskeln (CFEOM) und andere Phänotypen der kongenitalen kranialen Dysinnervationssyndrome (CCDD).

Currently, different syndromes with congenital, nonprogressive, sporadic, or familial developmental abnormalities of the cranial nerves and its nuclei are classified as congenital cranial dysinnervation syndromes (CCDD). One of these syndromes, congenital fibrosis of extraocular muscles (CFEOM), is characterized mainly by bilateral ophthalmoplegia of the oculomotor and trochlear nerves. Within the scope of an overview, the case of a 60-year-old patient with congenital fibrosis of extraocular muscles type 1 (CFEOM1) with autosomal dominant inheritance and typical phenotype, but additional progression of the ocular symptoms, is presented. Symptoms were caused by the common C2860-->T mutation in exon 21 of the KIF21A gene on chromosome 12. Further CCDD syndromes include the following phenotypes: congenital ptosis, Duane syndrome, horizontal gaze palsy, Möbius' syndrome, and congenital facial palsy. There are 13 different known gene loci for one of these phenotypes. Five gene products have been identified: the kinesin motor protein Kif21a, the transcription factors ARIX and SALL4, and the carboxypeptidase CPAH.

Botulinum toxin for temporary corneal protection after surgery for vestibular schwannoma.

OBJECT: High-grade postoperative facial nerve paresis after surgery for vestibular schwannoma with insufficient eye closure involves a risk for severe ocular complications. When conservative measurements are not sufficient, conventional invasive treatments include tarsorrhaphy and eyelid loading. In this study, injection of botulinum toxin into the levator palpebrae muscle was investigated as an alternative for temporary iatrogenic eye closure. METHODS: Injection of botulinum toxin was indicated by an interdisciplinary decision (neurosurgery and ophthalmology) in patients with a postoperative facial nerve paresis corresponding to a House-Brackmann Grade of IV or greater and documented abnormalities concerning corneal status such as keratopathia or conjunctival redness. Twenty-five IUs of botulinum toxin were injected transcutaneously and transconjunctivally. RESULTS: Six of 11 patients with high-grade paresis showed abnormal corneal findings in the early postoperative period. In 4 of these patients, botulinum toxin was injected; 1 patient declined the treatment, and in 1 patient it was not performed because of contralateral blindness. Temporary eye closure was achieved for 2 to 6 months in all cases. In all cases, facial nerve function had recovered sufficiently in terms of eye closure when the effect of botulinum toxin subsided. CONCLUSION: The application of botulinum toxin for temporary iatrogenic eye closure is an excellent low-risk and temporary alternative to other invasive measures for the treatment of postoperative high-grade facial nerve paresis when the facial nerve is anatomically intact.

Isolated bilateral blindness as the sole manifestation of transient ischaemic attacks.

PURPOSE: To explain the rare phenomenon of acute transient bilateral blindness without additional ophthalmological or neurological symptoms and signs. METHODS: Six patients with isolated bilateral visual loss lasting 1-15 mins and occurring simultaneously in both eyes were evaluated. Clinical observation, neuroimaging (CT, MRI, MR-angiography), extra- and transcranial Doppler and vascular risk factors assessment were performed. RESULTS: Cortical blindness due to bilateral occipital lobe transient ischaemic attacks (TIAs) was established as the most likely cause of acute transient visual loss in all patients. CONCLUSION: We suggest that in cases of transient bilateral blindness with sudden onset, appearing simultaneously in both visual fields, a bilateral ischaemia of the visual cortex should be suspected even if other neurological symptoms are lacking. Patients should be managed in the same way as patients with vertebrobasilar TIAs.

Cyclic vertical deviation after ocular myositis and treatment by recession of the inferior rectus muscle.

BACKGROUND: Cyclic strabismus is a rare disorder in which strabismus and orthotropia regularly alternate over a period of mostly 48 h. It may occur spontaneously, upon squint surgery, or in association with lesions of the central nervous system. In most cases the deviations are convergent. METHODS: Clinical case report. RESULTS: A 34-year-old woman with bilateral recurrent ocular myositis for 2 years had developed cyclic vertical deviation 6 months after clinical remission. A hypotropia of the left eye alternated with an orthotropia, following a 48-h rhythm. Three months after recession of the inferior rectus muscle the alternating squint had disappeared. DISCUSSION: The aetiology of cyclic eye deviations, most of them occurring in a constant rhythm, is not known. The association with lesions of the central nervous system indicates a primary central dysregulation of a "biological clock". Their well-known occurrence, however, after squint surgery and, as in the present case, after orbital myositis, suggests that alteration of peripheral structures may contribute to a central dysregulation. Squint surgery seems to be the treatment of choice, even in rare cases with vertical deviations.