[OCT in Neuroophthalmology]. / OCT in der Neuroophthalmologie.

Optical coherence tomography (OCT) has become the most important innovation in ophthalmology over the last 30 years and is used routinely, especially in the diagnosis of retinal and glaucomatous diseases. It is fast, non-invasive and reproducible. Since the procedures can offer such a high resolution that the individual retinal layers can be visualised and segmented, this examination technique has also found its way into neuroophthalmology. Especially the peripapillary nerve fibre layer (RNFL) and the ganglion cell layer (GCL) provide valuable diagnostic and prognostic information in cases of visual pathway disease and morphologically unexplained visual disorders. OCT is helpful in determining the cause of optic disc swelling and EDI-OCT can reliably detect buried, non-calcified drusen. This article is intended to provide the reader with an overview of current and future applications of OCT in neuroophthalmology and knowledge of possible pitfalls.

The Nasolacrimal Drainage System in 143 Children with the Microphthalmos-Anophthalmos Complex. / Tränenwegsbefunde von 143 Kindern mit Mikrophthalmus-Anophthalmus-Komplex.

BACKGROUND: Report of clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos (MAC-complex patients). METHODS: A retrospective study of the notes of 207 consecutive patients treated surgically at least once with highly hydrophilic self-inflating expanders for MAC between 1998 and 2021. The lacrimal drainage system was always probed and irrigated under general anaesthesia before any other procedure was started. RESULTS: 64 patients were excluded due to possible misdiagnosis because of previous lid or orbit surgery elsewhere or due to missing data. The analysis therefore included 67 girls and 76 boys aged between 1 and 126 months (median age: 5 months). 72 patients presented with unilateral and 42 with bilateral anophthalmos, and 24 had unilateral and 5 bilateral microphthalmos; consequently, 286 orbits (of which, 190 with probable pathology) were available for assessment. In unilateral cases the lacrimal system on the normal side was never affected. On the anophthalmic or microphthalmic side the lacrimal system was normal in 68 orbits only (35.8%). The most frequent finding was canalicular stenosis (91 orbits; 48%). Common canaliculus stenosis was observed in 12 orbits (6.3%) and nasolacrimal duct obstruction in 9 orbits (4.7%). There were four cases of punctal aplasia, but no other anomalies. In unilateral MAC pathologic findings during lacrimal probing were found to be associated with anatomical malformation of the contralateral fellow eye. Only in unilateral anophthalmos there was a significant association with cleft lip and palate, which was not found in the three other groups. CONCLUSIONS: In congenital clinical anophthalmos the lacrimal system is affected in up to 66.5% of cases, mostly due to canalicular stenosis. Even if there is no clear evidence of an embryological connection, this association is certainly not a random finding.

Therapeutic Strategies in 103 Children with Congenital Microphthalmos. / Therapiestrategien bei 103 Kindern mit kongenitalem Mikrophthalmus.

INTRODUCTION: Congenital microphthalmos can either occur alone (simple microphthalmos) or be associated with other ocular malformations, such as sclerocornea or cataract (complex microphthalmos). As this is a rare condition, there are no uniform recommendations for treatment. MATERIAL AND METHODS: Retrospective case series of 103 patients or a total of 114 eyes with congenital microphthalmos, with reporting of age, sex, visual acuity, pupil reaction, axial length, horizontal width of the palpebral fissure, type of therapy performed and complications. RESULTS: All patients would have been able to be fitted with a prosthesis primarily. The size of the palpebral fissure depended on the underlying findings: "bilateral microphthalmos" < "microphthalmos and healthy fellow eye" < "microphthalmos and fellow anophthalmos". In order to assess visual (residual) function in an infant in the first weeks or months of life, the pupillary response is of the upmost importance in deciding on therapy, especially in unilateral disease, and as assessed with the indirect light response of the healthy eye. In about half of the cases, conservative prosthetic treatment was sufficient. After the successful initial fitting of a prosthesis, the prosthesis was enlarged according to the ocularist's instructions. If the eye length difference was so large that symmetry could not be achieved even with a double-walled prosthesis, volume filling with retrobulbar implanted self-swelling pellet expanders (osmed GmbH, Ilmenau) was offered. In almost one third of the patients, no surgical therapy or prosthetic treatment was performed. The reason for this was usually the presence of minimal visual function of the microphthalmos - ranging from light perception to hand movements. CONCLUSIONS: In the case of visual function of the microphthalmos, surgical measures should not be indicated or only with extreme caution, since the preservation of the existing visual acuity must be regarded as having priority over the cosmetic findings. In cases of asymmetry or underdeveloped palpebral fissure, therapy can be started early in the first year of life without fear of resulting complications.

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. The core clinical phenotype comprises a characteristic facial gestalt, marked developmental delay, and myopia. Additional, nonobligatory features include obesity, microcephaly, short stature, muscular hypotonia, scoliosis, narrow hands and feet, progressive retinopathy, as well as neutropenia. Here we report a novel homozygous nonsense mutation in the VPS13B gene and previously undescribed clinical features in a 19-year-old woman with developmental delay, intellectual disability, and a particular facial appearance. The patient showed several features consistent with CS. In addition, the parents observed congenital alacrima and anhidrosis persisting until onset of puberty. The diagnosis was not established based on the clinical phenotype. We performed whole-genome sequencing and identified a novel homozygous nonsense mutation c.62T>G (NM_152564.4), p.(Leu21*) in the VPS13B gene. Our findings extended the previously reported phenotype of CS. We conclude that transient, prepubertal alacrima and anhidrosis are part of the phenotypic spectrum of CS associated with a novel homozygous nonsense mutation in the VPS13B gene.

[Diseases of the Lacrimal Gland]. / Erkrankungen der Tränendrüse.

Tear gland diseases are comparatively rare in daily ophthalmological practice. The aim of this article is on the one hand to present the necessary basic knowledge and on the other hand to draw a bow to important current publications on the subject in order to provide the reader with sufficient knowledge for daily practice after reading it.Inflammatory (acute and chronic specific dacryoadenitis, idiopathic dacryoadenitis), neoplastic (epithelial and nonepithelial) and structural (cysts etc.) are presented.Diagnostically, the importance of (open) biopsy has increased again in recent years. Only the pleomorphic adenoma of the lacrimal gland has to be removed in-toto in order to avoid a recurrence or malignant degeneration which is difficult to control curatively. Differential diagnostic aids are explained in detail.

Postoperative Behaviour after Primary Strabismus Surgery in Children: Is There an Influence of Intraoperative Topical Anaesthesia? / Aufwachverhalten nach primärer Augenmuskeloperation im Kindesalter: Gibt es einen Einfluss einer intraoperativen Oberflächenanästhesie?

INTRODUCTION: The course of the recovery phase after general anaesthesia, during which consciousness and pain gradually return, is essentially determined by the choice of anaesthetic drug, and its total dose or duration of application. This phase is often complicated by more or less severe agitation, especially in children. In the present study we investigated whether the application of a topical anaesthetic to the conjunctiva at the end of a strabismus operation had a positive effect on the recovery behaviour of the child. PATIENTS/METHODS: This prospective, randomised, blinded study was conducted with 50 healthy, ASA class I or II children, aged 3 to 8 years undergoing their first strabismus operation. Following the surgeon's randomisation two drops of a 0,5% tetracaine-HCl ophthalmic solution were applied to the operated conjunctiva three times at 30-s intervals immediately following wound closure. The postoperative evaluation encompassed heart rate, as well as COMFORT and CHEOPS scores. The first assessment was directly postoperatively with repetitions at 15, 30, 45, 60, 75, 90 and 120 min, as well as on the day after surgery. RESULTS: The CHEOPS scores did not differ significantly between children with or without topical anaesthesia at any time during the observation period. The COMFORT scores revealed a slight, but non-significant analgesic effect at 15 and 30 min. The 60 min score showed the opposite effect, possibly indicating a slight disadvantage of the topical anaesthesia. There were no significant differences with regard to time to first request for additional systemic analgesia, to the total dose of systemic pain medication, or to when the patient was eligible for discharge to the ward. CONCLUSION: The application of topical tetracaine-HCl immediately after wound closure had no positive effects on the course of the postoperative recovery period after strabismus surgery in children. There was no evidence of an effect on pain or emergence agitation.

[Efficacy and Side Effects of Lateral Orbital Wall Decompression Including the Orbital Rim in Patients with Graves' Orbitopathy]. / Effektivität und Risiken der tiefen lateralen knöchernen Orbitadekompression mit Entfernung der Orbitakante bei endokriner Orbitopathie.

BACKGROUND: Graves' orbitopathy is the most common extrathyroidal manifestation of Graves' disease. In the burnt out fibrotic phase exophthalmos, diplopia and lid retraction may remain, which can require multiple rehabilitative surgical interventions. Orbital decompression is an established surgical procedure for the treatment of exophthalmos in Graves' orbitopathy. The aim of the study was to evaluate the efficacy and side effects of the deep lateral orbital wall decompression including the orbital rim. METHODS: In this retrospective, non-comparative case series, all patients with Graves' orbitopathy, who underwent lateral orbital wall decompression at the Eye Clinic of the University of Göttingen between 2008 and 2015, were analysed in terms of exophthalmos reduction, diplopia (Gorman score) and complications. The surgical technique involved the removal of the lateral orbital wall including the orbital rim combined with additional orbital fat resection via swinging eyelid approach. RESULTS: 127 patients who underwent 195 orbital decompressions were included. Mean exophthalmos reduction was 4.0 ± 1.2 mm (range 1.5 - 7.5 mm). Preoperatively, 47 patients/77 orbits (37.0/39.5%) presented without diplopia. Postoperatively, 3 patients/3 orbits (6.4/3.9%) showed new-onset diplopia (2.4% of all patients, 1.5% of all orbits). Diplopia in primary gaze was noted in one of the 3 patients (0.8% of all patients, 2.1% of patients without preoperative diplopia), and inconstant diplopia was seen in the other 2 patients. Postoperative improvement of diplopia was noted in 19 patients/19 orbits (15.0% of all patients, 23.8% of patients with preoperative diplopia/9.7% of all 195 interventions), and 16.1% of cases with preexisting diplopia. No severe complications were seen, except for one case of postoperative bleeding, which was successfully managed surgically without any functional deficits. A visible scar formation was noted in 6 cases (3.1%), temporal hollowing in 3 cases (1.5%), oscillopsia when chewing in 3 cases (1.5%) and a de-insertion of the lateral canthal region in 2 cases (1%). CONCLUSIONS: Deep lateral orbital wall decompression, including the orbital rim, is an effective surgical technique to reduce exophthalmos in patients with Graves' orbitopathy with a low risk of functional and aesthetic complications.

[Atropine for the Prevention of Progression in Myopia - Data, Side Effects, Practical Guidelines]. / Atropin zur Prävention der Myopieprogression ­ Datenlage, Nebenwirkungen, praktische Empfehlungen.

The prevalence of myopia has increased worldwide in recent decades. In East Asia's metropolises ≥ 80% of young adults are affected. This dramatic increase is mainly caused by changes in lifestyle and behaviour. Atropine has been used for more than 100 years to arrest myopia progression. It has become an evidence-based treatment regimen in the last decade, although the exact mechanism of the effect of treatment is still unknown. Atropine eye drops can slow myopia progression by an average of - 0.54 dioptres (D)/year in Asian children and - 0.35 D/year in Caucasian children. However, a non-response rate of about 10% has been found. Treatment should be established in schoolchildren only (age ≥ 6 years) with myopia ≤ - 2 D (spherical equivalent, cycoplegic refraction) and with documented myopic progression of - 0.5 D in the preceding year. 0.01% eyedrops should be instilled into the lower fornix at bedtime. Atropine 0.01% therapy is well tolerated. Atropine is usually administered for 2 years since efficacy is somewhat better in the second year. During treatment, a 6-month follow-up with cycoplegic refraction and axial length measurement is recommended. After the 2-year period, atropine withdrawal is justified if progression is less than - 0.25 D/year in the second year. Even after atropine has been stopped, follow-up examinations are needed to detect any rebound. Atropine-therapy is resumed if progression is again higher than - 0.5 D/year. Topical atropine is used off-label.

Presentation of Graves' orbitopathy within European Group On Graves' Orbitopathy (EUGOGO) centres from 2012 to 2019 (PREGO III).

BACKGROUND: Graves' orbitopathy (GO) is subject to epidemiological and care-related changes. Aim of the survey was to identify trends in presentation of GO to the European Group On Graves' Orbitopathy (EUGOGO) tertiary referral centres and initial management over time. METHODS: Prospective observational multicentre study. All new referrals with diagnosis of GO within September-December 2019 were included. Clinical and demographic characteristics, referral timelines and initial therapeutic decisions were recorded. Data were compared with a similar EUGOGO survey performed in 2012. RESULTS: Besides age (mean age: 50.5±13 years vs 47.7±14 years; p 0.007), demographic characteristics of 432 patients studied in 2019 were similar to those in 2012. In 2019, there was a decrease of severe cases (9.8% vs 14.9; p<0.001), but no significant change in proportion of active cases (41.3% vs 36.6%; p 0.217). After first diagnosis of GO, median referral time to an EUGOGO tertiary centre was shorter (2 (0-350) vs 6 (0-552) months; p<0.001) in 2019. At the time of first visit, more patients were already on antithyroid medications (80.2% vs 45.0%; p<0.001) or selenium (22.3% vs 3.0%; p<0.001). In 2019, the initial management plans for GO were similar to 2012, except for lid surgery (2.4% vs 13.9%; p<0.001) and prescription of selenium (28.5% vs 21.0%; p 0.027). CONCLUSION: GO patients are referred to tertiary EUGOGO centres in a less severe stage of the disease than before. We speculate that this might be linked to a broader awareness of the disease and faster and adequate delivered treatment.

Dermatofibrosarcoma protuberans with primary orbital manifestation.

A 45-year-old, otherwise healthy woman presented with mild epiphora and a palpable mass in the lacrimal sac area. After transcutaneus orbitotomy and complete excision histopathology revealed a primary Dermatofibrosarcoma protuberans invading the orbit. During the 24-months follow-up, no recurrence occurred. To the best of our knowledge this is the first report of a primary DFSP with the orbit involved.

[Ocular prosthetics in children-Possibilities and challenges]. / Augenprothetik beim Kind ­ Möglichkeiten und Herausforderungen.

One of the greatest challenges for ocularists is prosthetic fitting in children, especially in children with congenital anomalies such as clinical anophthalmia or functionless (blind) microphthalmia. The most frequent reason for prosthetic fitting in children is a condition following enucleation for retinoblastoma, followed by trauma and congenital pathologies. The standard treatment after enucleation or evisceration begins intraoperatively with the selection of an suitable implant and the use of a conformer at the end of the operation to shape the prosthetic cavity. An initial prosthesis can be fitted 4 weeks postoperatively, with a final fitting taking place 3 months later. If iatrogenic scarring or scarring due to an infection of the prosthetic cavity occurs, the approach of the ocularist must be appropriately adapted with the use of modified prosthesis shapes and shorter treatment intervals. Surgical options include scar excision and oral mucosa or amniotic membrane transplantation. Congenital anomalies require the shortest treatment intervals and even more so for anophthalmia than for microphthalmia. The strategy is characterized by simultaneous stimulation of the soft tissue of the ocular adnexa as well as the bony orbit. As self-inflating hydrogel expanders are no longer available, conservative prosthetic treatment is the only option. Close cooperation between child/parent, ocularist and ophthalmic plastic surgeon is the best prerequisite for a good long-term treatment outcome.

Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review.

Multiple sulfatase deficiency (MSD) is an extremely rare autosomal recessively inherited disease with a prevalence of 1:500.000 caused by mutations on the sulfatase-modifying-Factor 1 gene (SUMF1). MSD is most specifically characterised by a combination of developmentally retarded psychomotoric functions, neurodegeneration that entails the loss of many already acquired abilities, and by ichthyosis. Other symptoms include those associated with mucopolysaccharidosis, i.e., facial dysmorphy, dwarfism, and hepatosplenomegaly. In 50-75% of all MSD-affected patients, functional or structural ocular damage is likely. MSD seldom affects the anterior segment of the eye. The main pathology these patients present is a highly conspicuous tapetoretinal degeneration, similar to severe Retinitis pigmentosa, that leads to blindness at an early age. An initially five-year-old boy with MSD, genetically verified at his first examination in our opthalmology department (SUMF1 mutations c.776A>T, p.Asn259Ile; c.797A>T, p.Pro266Leu; c.836A>T, p.Ala279Val), and a 4, 5 year regular follow-up are described. The patient had some visual potential ("tunnel view"), which deteriorated dramatically after his fifth birthday. We observed no evidence of worsening retinal involvement in this patient in spite of his progressively worsening clinical symptoms, extending to total blindness/no light perception. OCT revealed that the outer retinal layers containing photoreceptors were diseased; the ellipsoid zone was only partially discernible and the outer nuclear layer appeared to be thinned out. The inner nuclear layer, ganglion cell layer, and retinal nerve fibre layer were indistinguishable. These anomalies are indicative of a severe pathology within the retina's inner layers. Characteristic anomalies in the fundus should stimulate clinicians to suspect a case of MSD in their differential diagnosis, and thus to order thorough genetic and paediatric diagnostics.

Characterization and Classification of Postoperative Cysts After Strabismus Surgery: Clinical, Histological, and Anterior Segment OCT Analysis in a Large German Cohort.

INTRODUCTION: In this work, we provide a detailed characterization of a rare complication-subconjunctival cyst formation after strabismus surgery-in a large German cohort. METHODS: We conducted a retrospective analysis of 822 consecutive patients who underwent strabismus surgery between 2015 and 2022. The patients received comprehensive eye and orthoptic examinations preoperatively, at 1 day, and at 3 months postoperatively. Cysts were analyzed with slit-lamp examination, anterior segment optical coherence tomography (AS-OCT), and histopathological subsumption. RESULTS: Nineteen cases of postoperative cysts were observed (2.3%), 12 of which underwent surgical revision. Clinical evaluation including slit-lamp and AS-OCT as well as histological analysis resulted in a classification of three types of cysts: type 1, which is a single hyporeflective cyst, type 2, which is a multilobular hyporeflective cyst, and type 3, a dense hyperreflective granulomatous-like cyst. Eta (η) correlation ratio analysis could show a correlation between time of clinical appearance and type of cyst (Eta = 0.63). Most cysts developed within 20 days after surgery. Not only did cysts more frequently affect the medial rectus muscle, which in most cases underwent a shortening procedure (11/19 tucks, 4/19 resections) for intermittent exotropia (X(T)), but the cyst also formed earlier than in the lateral rectus muscle (Eta = 0.45). No correlation could be shown between the type of surgical procedure and time of cyst occurrence (Eta = 0.1). Patient age and cyst type correlated strongly (Eta = 0.47). The underlying type of strabismus did not correlate with the type of cyst observed. CONCLUSIONS: Our cases showed a strong positive correlation to the type of strabismus (X(T)), age (young patients), and the procedure (tuck/resection). We introduce a grading system for postoperative cysts after strabismus surgery, complementing histopathology and slit-lamp aspects with AS-OCT information.

Low-dose AtropIne for Myopia Control in Children (AIM): protocol for a randomised, controlled, double-blind, multicentre, clinical trial with two parallel arms.

INTRODUCTION: Myopia is a major cause of degenerative eye disease and increases the risk of secondary visual impairment. Mitigating its progression therefore has great potential of clinically relevant benefit as shown by using highly diluted atropine eye drops in children of Asian origin. However, limited evidence is available regarding the efficacy and safety of low-dose atropine therapy in non-Asian populations. Hence, the Low-dose AtropIne for Myopia Control in Children (AIM) study will test the efficacy and safety of 0.02% atropine vs placebo in a German population. METHODS AND ANALYSIS: AIM is a national, multicentre, prospective, randomised, placebo-controlled, double-blind trial with two parallel arms. The primary objective is to assess the efficacy of atropine 0.02% eyedrops for myopia control in children of Caucasian origin. The primary outcome is the change in cycloplegic refraction after 1 year of treatment (D/year). Secondary and tertiary outcome measures comprise the change in axial length (mm/year) in children treated with 0.02% atropine compared with placebo, the myopic progression of participants treated with 0.01% compared with 0.02% atropine (D/year and mm/year), and the safety profile of both 0.02% and 0.01% atropine. Furthermore, the myopic progression 1 year after cessation of therapy with 0.02% atropine will be evaluated. Inclusion criteria are an age of 8-12 years and myopia of -1 D to -6 D with an estimated annual myopia progression of ≥0.5 D. After randomisation, patients will receive either atropine 0.02% (arm A) or placebo eye drops (arm B) in the first year of treatment. In the second year, they will continue to receive atropine 0.02% (arm A) or switch to atropine 0.01% (arm B). In the third year, they will switch to placebo (arm A) or continue with atropine 0.01% (arm B). To achieve a statistical power of 80%, the calculated sample size is 300. The trial has started in October 2021 with a planned recruitment period of 18 months. ETHICS AND DISSEMINATION: AIM has been approved by the Central Ethics Committee of the University Medical Center Freiburg (21-1106), local ethics committees of each participating centre and the German Federal Institute for Drugs and Medical Devices (61-3910-4044659). It complies with the Declaration of Helsinki, local laws and ICH-GCP. Results and underlying data from this trial will be disseminated through peer-reviewed publications and conference presentations. TRIAL REGISTRATION NUMBER: NCT03865160.

The use of lyophilized bovine pericardium (Tutopatch®) in the management of third nerve palsy following prior conventional strabismus surgery - a case series.

To study the secondary management of strabismus due to third nerve palsy using bovine pericardium (Tutopatch®) when previous conventional surgical therapy had failed. Review of our clinic records of selected patients with third nerve palsy, in whom residual deviation had been managed using Tutopatch® after previous surgical correction. The squint angle was measured preoperatively, and at 1 day, 3 months, and if possible 6 months postoperatively. Nine patients were enrolled in this study. One patient had mainly residual vertical deviation and was corrected with tendon elongation of the contralateral superior rectus. Three patients were operated on with tendon elongation of the lateral rectus muscle with or without medial rectus muscle resection and/or advancement (Group 1). Lateral rectus splitting after tendon elongation in addition to the resection and/or advancement of the medial rectus was performed in five patients with complete third nerve palsy (Group 2). In Group 1, the preoperative median squint angle was -20° (range -17° to -25°), which improved postoperatively to -4.5° (range -12° to +3°). In Group 2, the preoperative horizontal and vertical median squint angles were -27° (range -20° to -40°) and 0.5° (range 0° and 20°), respectively. Postoperatively, they had improved to -12.5° (range-2° to -25°), and 1.5° (range 0° to 7°), respectively. Two patients of Group 2 were re-operated due to residual exotropia. No postoperative complications were observed in any patient. In this small series several complex re-do situations of patients with third nerve palsy were evaluated in which Tutopatch® markedly improved outcomes after an initially ineffective surgical management. For better evaluation of its usefulness a study with more patients is recommended.

Clinical Congenital Anophthalmos and Microphthalmos-Experiences of Patients and Their Parents after More than 10 Years of Treatment.

Congenital clinical anophthalmos and blind microphthalmos describe the absence of an eye or the presence of a small eye in the orbit. Between 1999 and 2013, 97 children with anophthalmos or microphthalmos were treated with self-inflating, hydrophilic gel expanders at the Rostock Eye Clinic. More than a decade later, this study investigated the perspective of patients and parents regarding the treatment, the surgical outcome, and the emotional and social well-being of the patients. A total of 22 families with 16 patients sighted in the other eye and six patients blind in both eyes participated. Questionnaires were developed, including items on physical, emotional, social, and medical aspects. The patients felt emotionally stable and integrated into their social environment, with no major limitations reported by the majority. These statements were confirmed by most of the parents. Parents (67%) indicated that the success of the operation was already apparent after the first intervention and that the current situation did not play a role in the patients' social environment. The study provided new insights into the therapy results, the postoperative care, and the social and emotional stability of the prosthesis-wearing patients, indicating the chosen expander methods as promising in terms of positive postoperative care.

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.

BACKGROUND: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mutation carriers include smoking, heavy intake of alcohol, raised intraocular pressure, and some drugs, including several carbonic anhydrase inhibitors. The antiepileptic drug sulthiame (STM) is effective especially in focal seizures, particularly in benign epilepsy of childhood with centrotemporal spikes, and widely used in pediatric epileptology. STM is a sulfonamide derivate and an inhibitor of mammalian carbonic anhydrase isoforms I-XIV. RESULTS: We describe two unrelated patients, an 8-year-old girl and an 11-year-old boy, with cryptogenic focal epilepsy, who suffered binocular (subject #1) or monocular (subject #2) visual loss in close temporal connection with starting antiepileptic pharmacotherapy with STM. In both subjects, visual loss was due to LHON. We used real-time respirometry in fibroblasts derived from LHON patients carrying the same mitochondrial mutations as our two subjects to investigate the effect of STM on oxidative phosphorylation. Oxygen consumption rate in fibroblasts from a healthy control was not impaired by STM compared with a vehicle control. In contrast, fibroblasts carrying the m.14484T>C or the m.3460G>A LHON mutation displayed a drastic reduction of the respiration rate when treated with STM compared to vehicle control. CONCLUSIONS: Our observations point to a causal relationship between STM treatment and onset or worsening of visual failure in two subjects with LHON rather than pure coincidence. We conclude that antiepileptic medication with STM may pose a risk for visual loss in LHON mutation carriers and should be avoided in these patients.

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.