Dysregulated Retinoic Acid Signaling in the Pathogenesis of Pseudoexfoliation Syndrome.

Pseudoexfoliation (PEX) syndrome, a stress-induced fibrotic matrix process, is the most common recognizable cause of open-angle glaucoma worldwide. The recent identification of PEX-associated gene variants uncovered the vitamin A metabolic pathway as a factor influencing the risk of disease. In this study, we analyzed the role of the retinoic acid (RA) signaling pathway in the PEX-associated matrix metabolism and evaluated its targeting as a potential candidate for an anti-fibrotic intervention. We provided evidence that decreased expression levels of RA pathway components and diminished RA signaling activity occur in an antagonistic crosstalk with TGF-ß1/Smad signaling in ocular tissues and cells from PEX patients when compared with age-matched controls. Genetic and pharmacologic modes of RA pathway inhibition induced the expression and production of PEX-associated matrix components by disease-relevant cell culture models in vitro. Conversely, RA signaling pathway activation by natural and synthetic retinoids was able to suppress PEX-associated matrix production and formation of microfibrillar networks via antagonization of Smad-dependent TGF-ß1 signaling. The findings indicate that deficient RA signaling in conjunction with hyperactivated TGF-ß1/Smad signaling is a driver of PEX-associated fibrosis, and that restoration of RA signaling may be a promising strategy for anti-fibrotic intervention in patients with PEX syndrome and glaucoma.

[Isolated Unilateral Strabismus Sursoadductorius (Congenital Trochlear Palsy) with and without Hypotrophia of the Superior Oblique Muscle-Orthoptic Differences in Adulthood]. / Unilateraler dekompensierender Strabismus sursoadductorius mit und ohne Hypotrophie des M. obliquus superior ­ orthoptische Unterscheidungsmerkmale im Erwachsenenalter.

PURPOSE: The clinical feature of unilateral decompensating strabismus sursoadductorius (dSSA; often called congenital superior oblique palsy, CSOP) is not an etiologically uniform entity. Hypotrophy of the superior oblique muscle (HMOS) is a frequent and immediate cause of dSSA/CSOP. In this study, clinical characteristics of dSSA/CSOP with and without HMOS are compared. PATIENTS AND METHODS: Twenty-five consecutive patients (age 14 - 69 years; median 43 years) were included in this study, 14 with 3T MRI-proven HMOS (group 1) and 11 without HMOS (group 2). HMOS was defined as a reduction of the medio-lateral (ML) as well as based on ML and cranio-caudal (CC) diameter calculated area = (ML · CC/4) · π of the affected superior oblique muscle (SOM) < 80% in comparison to the contralateral SOM (measured on the single coronal image on which the muscle has its greatest extent). The two groups were compared in terms of head tilt, cyclo- and vertical deviation and the Bielschowsky head tilt test. Patients were classified according the Knapp's classification. RESULTS: Both the incidence of head tilt with 14/14 vs. 5/11 (χ2 = 0.003) and its degree: 11.1 ± 4.5° vs. 3.2 ± 4.1° (p < 0.001) was higher in group 1 than in group 2, as well as the Bielschowsky head tilt test: 9.3 ± 4.3° vs. 3.8 ± 4.9° (p = 0.008). The average amount of hypertropia was larger in group 1 than in group 2 during adduction: 16.7 ± 5.3° vs. 9.3 ± 3.4° (p < 0.001) as well as during adduction and downgaze of the affected eye: 14.6 ± 7.1 vs. 7.2 ± 3.7° (p = 0.03). In the sagittal plane, the increase of vertical deviation was larger in group 1 than in group 2: 2.8 ± 7.8 vs. - 2.4 ± 4.2 (p = 0.04); the excyclodeviation was larger in group 1 in all three planes (sagittal plane, adduction and abduction) in comparison to group 2: 1.3 ± 4.1 vs. - 2.9 ± 2.8 (p = 0.006), 2.4 ± 5.2 vs. - 2.2 ± 2.9 (p = 0.01), 0.5 ± 3.8 vs. - 2.7 ± 3.9 (p = 0.05). Knapp's class II was found in 6 of 15 patients in group 1 and only in this patient group (χ2 = 0.03). CONCLUSIONS: In both groups, the vertical deviation showed a great dispersion. In patients without HMOS (group 2), vertical deviation in adduction did not exceed 15°. Patients with HMOS (group 1) do not show the typical features of a later acquired trochlear palsy due to an early developed compensating innervation. A vertical deviation in adduction of more than 15°, increasing excyclodeviation towards downgaze in all three planes (sagittal plane, adduction and abduction) and Knapp's class II are relatively reliable predictors of a hypoplasia of the SOM. An internationally uniform term for this group of patients, such as superior oblique weakness or superior oblique hypotrophy, would be desirable.

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.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

Neurofibromatosis-Noonan syndrome (NFNS), an entity which combines both features of Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), was etiologically unresolved until recent reports demonstrated NF1 mutations in the majority of patients with NFNS. The phenotypic overlap was explained by the involvement of the Ras pathway in both disorders, and, accordingly, clustering of the NF1 mutations in the GTPase-activating protein (GAP) domain of neurofibromin was observed in individuals with NFNS. We report on an 18-month-old girl with typical findings suggestive of NS in combination with multiple café-au-lait spots and bilateral optic gliomas suggestive of NF1. The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few café-au-lait spots as the only sign of neurofibromatosis. Since our patient's unique NF1 mutation results in skipping of exon 27a and thus involves the same region, Gap-related domain, that had been shown to be associated with NFNS, her phenotype could have been misleadingly attributed to the NF1 mutation only. Contrarily, absence of both cutaneous neurofibromas and NS features in her relatives with the same NF1 mutation, suggests that the index patient's typical NFNS phenotype is caused by an additive effect of mutations in both NF1 and PTPN11. In contrast to previous findings, we speculate that absence of cutaneous neurofibromas is not solely associated with the recurrent 3-bp in-frame deletion in exon 17.

Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response.

Purpose: Alternative mRNA splicing coupled to nonsense-mediated decay (NMD) is a common mRNA surveillance pathway also known to dynamically modulate gene expression in response to cellular stress. Here, we investigated the involvement of this pathway in the regulation of lysyl oxidase-like 1 (LOXL1) expression in response to pseudoexfoliation (PEX)-associated pathophysiologic factors. Methods: Transcript levels of LOXL1 isoforms were determined in ocular tissues obtained from donor eyes without and with PEX syndrome. Pseudoexfoliation-relevant cell types, including human Tenon's capsule fibroblasts (hTCF) and trabecular meshwork cells (hTMC), were exposed to puromycin, caffeine, TGF-ß1, homocysteine, IL-6, retinoic acid, UV-B radiation, oxidative stress, and mechanical stress for up to 48 hours. Western blot analysis was carried out using antibodies against LOXL1, (phosphorylated-) eukaryotic initiation factor 2-α (eIF2-α), and regulator of nonsense transcripts 2 (UPF2). RNA interference was used to knockdown UPF1-3 and Serine/threonine-protein kinase (SMG1). Results: Constitutive expression of wild-type LOXL1 and alternatively spliced LOXL1-a transcripts was detected in all ocular tissues showing highest levels in trabecular meshwork and differential expression between PEX and control specimens. LOXL1-a transcripts were upregulated in hTCF and hTMC by NMD inhibitors puromycin and caffeine (≥6-fold; P < 0.01) or after knockdown of NMD core factors (≥2-fold; P < 0.05), whereas mRNA and protein levels of LOXL1 were reduced (≤0.8 fold; P < 0.05). Exposure of cells to various PEX-associated (stress) factors, including TGF-ß1, UV-B light, oxidative stress, mechanical stress, and retinoic acid enhanced LOXL1-a transcript levels (≥1.5-fold; P < 0.05), while partially downregulating LOXL1 levels (≤0.7-fold; P < 0.05). Stress-induced inhibition of NMD was dependent on phosphorylation of eIF2α. Conclusions: These findings provide evidence for a functional role of alternative splicing coupled to NMD in the posttranscriptional regulation of LOXL1 gene expression and suggest this mechanism to represent a dynamic mode of adapting LOXL1 expression to PEX-associated environmental and nutritional cues.

Implantation of a new accommodative posterior chamber intraocular lens.

PURPOSE: A new, potentially accommodative posterior chamber lens (PCIOL) was designed based on principles elaborated by Hanna using finite element computer simulation methods. We report 3-month postoperative results in patients. METHODS: In a prospective study, 12 eyes of 12 patients (age 45 to 87 yr) underwent phacoemulsification for cataracts and PCIOL implantation. The PCIOL, 1 CU, has haptics designed for anterior optic movement following ciliary muscle contraction. Patients were examined postoperatively after 1 and 2 days, 1, 2 and 6 weeks, and 3 months, and results were compared with a control group of 12 eyes that received standard PMMA or acrylic PCIOLs. RESULTS: Surgery was uncomplicated and all PCIOLs were well-tolerated and stable with good centration in the capsular bag. The results were (mean +/- SD [range] and median; 1 CU versus control PCIOL): near visual acuity (Birkhäuser reading chart at 35 cm) with best distance correction 0.34 +/- 0.17 (0.2 to 0.6), 0.3 (J10-J1, median J7) versus 0.15 +/- 0.07 (0.1 to 0.3), 0.15 (J16-J7, median J13), P=.001; subjective near point 59 +/- 10 cm (40 to 100 cm), 53.5 cm versus 93 +/- 20 cm (64 to 128 cm), 86 cm, P=.004; retinoscopic accommodative range 1.2 +/- 0.4 D (0.63 to 1.5 D), 1.2 D versus 0.2 +/- 0.19 D (-0.25 to 0.5 D), 0.25 D, P < .001; decrease of anterior chamber depth after 2% pilocarpine 0.63 +/- 0.16 mm (0.40 to 0.91 mm), 0.63 mm versus 0.15 +/- 0.05 mm (0.08 to 0.20 mm), 0.17 mm, P < .001. CONCLUSIONS: The new PCIOL appears to be safe at short to medium term. Our results indicate pseudophakic accommodation secondary to focus shift with this PCIOL. Additional larger and long-term studies are necessary for exact evaluation of safety and accommodative power of this new PCIOL.

Measurement of accommodation after implantation of an accommodating posterior chamber intraocular lens.

PURPOSE: To analyze techniques of measuring accommodation after implantation of an accommodating posterior chamber intraocular lens (PC IOL). SETTING: Department of Ophthalmology and University Eye Hospital, University Erlangen-Nürnberg, Erlangen, Germany. METHODS: This prospective study analyzed 23 eyes of 23 patients (aged 41 to 87 years) after cataract surgery and PC IOL implantation (1 CU, HumanOptics) 4 weeks and 3 and 6 months after surgery. The results were compared to those in an age-matched control group (n = 20) 6 months after surgery. The following methods were used to measure accommodation: dynamic with objective techniques (PlusOptix PowerRefractor videorefractometry, streak retinoscopy) and subjective techniques (subjective near point [push-up test, accommodometer], defocusing); static with pharmacologic stimulation after pilocarpine 2% eyedrops directly (conventional refractometry); indirectly (change in the anterior chamber depth [ACD] with Zeiss IOLMaster). RESULTS: Results at 6 months, given as mean +/- SD (range), in the study and control groups, respectively, were as follows: near visual acuity (Birkhäuser reading charts at 35 cm) with distance correction, 0.32 +/- 0.11 (0.20 to 0.60) and 0.14 +/- 0.10 (0.05 to 0.30); accommodation amplitude (diopters) by PowerRefractor, 1.00 +/- 0.44 (0.75 to 2.13) and 0.35 +/- 0.26 (0.10 to 0.65), by retinoscopy, 0.99 +/- 0.48 (0.13 to 2.00) and 0.24 +/- 0.21 (-0.13 to +0.75), by subjective near point, 1.60 +/- 0.55 (0.50 to 2.56) and 0.42 +/- 0.25 (0.00 to 0.75), and by defocusing, 1.46 +/- 0.53 (1.00 to -2.50) and 0.55 +/- 0.33 (0.25 to 0.87). The mean ACD decrease (mm) was 0.78 +/- 0.12 (0.49 to 1.91) and 0.16 +/- 0.09 (0.00 to 0.34) after pilocarpine 2% eyedrops, indicating a mean accommodation of 1.40 D and 0.29 D, respectively, based on Gullstrand's model eye (P =.001). The lowest fluctuation between follow-ups was with the subjective near point and the defocusing techniques followed by ACD decrease with the IOLMaster. CONCLUSIONS: Accommodation after implantation of an accommodating PC IOL should be assessed with several techniques, including subjective and objective, to differentiate true pseudophakic accommodation from pseudoaccommodation. Researchers should be aware of the different variability and consistency of measurements with each technique over time.

Annular crystalline keratopathy in association with immunoglobulin therapy for pyoderma gangrenosum.

PURPOSE: To report on a patient with a clinical presentation of annular crystalline keratopathy after immunoglobulin therapy for pyoderma gangrenosum. METHODS: Case report of a 6-year-old boy with biopsy-proven history of pyoderma gangrenosum who had undergone several cycles of systemic immunoglobulin therapy. The literature on ocular manifestations associated with pyoderma gangrenosum was reviewed. RESULTS: One year after the last cycle, the patient complained of the sudden onset of photophobia. Slit-lamp biomicroscopy revealed bilateral symmetric crystalline deposits in an annular region of the cornea. Because visual acuity was not reduced, specific therapy was not initiated. Symptoms could be reduced by the prescription of medical edged filter lenses. CONCLUSIONS: Annular crystalline corneal deposits may be associated with immunoglobulin therapy or represent a hitherto unknown ocular complication of pyoderma gangrenosum.

Results following eye muscle surgery for secondary sensory strabismus.

PURPOSE: To provide a longer follow-up after strabismus surgery for secondary sensory strabismus. PATIENTS AND METHODS: We investigated the follow up of 26 patients operated on for secondary strabismus: 7 convergent (SSC), 19 divergent (SSD). Inclusion criteria were fellow eye without any morphological disorder, and exclusion criteria were possible motility disorders or mechanical restriction: The mean follow-up time after surgery was 5 years 8 months +/- 4 years (1 year 8 months to 12 years 8 months) for SSC and 5 years 10 months +/- 3 years, 8 months (7 months to 13 years 3 months) for SSD, with p = 0.86. A statistical analysis of the results was performed with SPSS version 11.5 (Statistical Products and Service Solutions, SPSS Inc., United States). All statistical tests were 2-sided, and the threshold of significance was set to p < or = 0.05. MAIN RESULTS: The angle of deviation for far distance was reduced from 20 +/- 9 (11 to 35) to -2 +/- 4 (-8 to 6) degrees for SSC and from -21 +/- 8 (-42 to -10) to -2 +/- 5 (-15 to 4) degrees for SSD. A correlation between the postoperative angle in far distance and the visual acuity (lg visus) of the affected eye was not found for SSC: r = -0.5, p = 0.24, but was observed for SSD: r = 0.52, p = 0.02. In patients with perforating injury, a correlation of the postoperative angle in far distance to the age at injury of the affected eye was found (r = 0.6, p = 0.05). Two of the seven patients with SSC and one of 19 with SSD complained of double vision pre- and post-operatively. All patients with SSC and with SSD were satisfied with the postoperative angle of deviation. CONCLUSION: The results of this study indicate that, in general, we can recommend eye muscle surgery in secondary strabismus.

[Congenital ptosis: amblyogenic refractive errors, amblyopia, manifest strabismus and stereopsis related to the types of ptosis. Data on 77 patients and review of the literature]. / Kongenitale Ptosis: Refraktionsfehler, Amblyopie und Störungen des Binokularsehens der einzelnen Ptosisformen--Befunde von 77 Patienten und Literaturübersicht.

BACKGROUND: Former reports on amblyogenic refractive errors, amblyopia and binocular vision in congenital ptosis usually comprise all forms of ptosis without any differentiation. This study is an analysis of different kinds of ptosis. PATIENTS AND METHODS: 154 eyes (98 ptotic eyes) of 77 patients with congenital ptosis aged > or = 1 year (56 unilateral ptoses: 45 simple, 1 with rectus superior paresis, 7 with Marcus Gunn's syndrome, 2 congenital oculomotor palsies, 1 unilateral fibrosis syndrome; 21 bilateral ptoses: 10 simple, 2 with bilateral double elevator paresis, 7 blepharophimosis syndromes and 2 bilateral fibrosis syndromes) were investigated concerning visual acuity, refractive error (94 % in cycloplegy), strabismus and stereo acuity. As amblyogenic refractive errors were defined: astigmatism > or = ldpt, anisometropia > or = 1 dpt (spherical equivalent) and hyperopia > or = 3 dpt; amblyopia was defined as visual acuity less than 1.0 or a difference between both eyes of at least 0.2. RESULTS: Altogether were found: Hyperopia > or = 3 dpt in 28.6 % (n = 28); astigmatism > or = 1 dpt in 63.3 % (n = 62), anisometropia in 27.3 % (n = 21), amblyopia in 65.3 % (n = 64), strabismus in 29.9 % (n = 23) and stereopsis in 76.6 % (n = 59). In unilateral simple ptosis, astigmatism of the fellow eye was found in 26.8 % (n = 14). In unilateral ptosis, esotropia was 21.4 % (n = 12), in bilateral ptosis, exotropia 19 % (n = 4), as well as astigmatism > or = 3 dpt 26.2 % (n = 11). As was to be expected, ptosis groups with motility disorders were associated with higher rates of strabismus and amblyopia. The blepharophimosis syndrome could be differentiated by the typical lid anomalies. CONCLUSION: The subgroups of congenital ptosis differ in frequency of amblyogenic factors. In unilateral ptosis these are also frequent in the fellow eye.

Results and complications of hydrophobic acrylic vs PMMA posterior chamber lenses in children under 17 years of age.

PURPOSE: To compare results and complications of implantation of hydrophobic acrylic foldable intraocular lenses in children with those of polymethylmethacrylate (PMMA) intraocular lenses. METHODS: In a retrospective study, we analyzed results of cataract surgery with posterior chamber lens implantation in 30 eyes of 30 patients aged 1-16 years. In 10 eyes, acrylic (Alcon AcrySof) intraocular lenses, and in 20 eyes, single-piece PMMA posterior chamber lenses were implanted. Indications for cataract surgery (blunt or penetrating trauma, zonular cataract, cataracta polaris posterior, posterior lenticonus) and mean age at implantation were comparable in the two groups. Mean patient age at surgery was 8.6+/-4.6 years (range 3-16 years) for the acrylic vs 6.3+/-4.3 years (range 1-16 years) for the PMMA group. Mean follow-up was 1.0+/-0.7 years (range 0.1-2.2 years) in the acrylic group and 1.8+/-1.5 years (range 0.1-5.7 years) in the PMMA group. Primary anterior vitrectomy was performed in 7 eyes in the PMMA group and in 3 eyes in the acrylic group. In addition, one additional posterior capsulorhexis without anterior vitrectomy was performed in each group. Primary outcome measure was the occurrence of postoperative "complications" (fibrin, synechiae, posterior capsular opacification). For statistical evaluation, the Fisher exact test was used. RESULTS: When evaluating all complications together (at least one complication vs no complication), there were significantly less complications in the acrylic group (2 of 10 vs 15 of 20; p=0.007. For early complications (postoperative fibrin, synechiae) the difference was also significant (1 of 10 in the acrylic vs 11 of 20 in the PMMA group; p=0.02). The rate of posterior capsular opacification necessitating YAG capsulotomy was lower in the acrylic group (1 of 10 eyes) than in the PMMA group (7 of 20 eyes), but the difference did not reach statistical significance ( p=0.67). The postoperative time point of YAG capsulotomy was 21 months in the acrylic group and 19+/-10 months (range 6-33 months) in the PMMA group. IOL dislocation was not observed in any of the patients. Postoperative visual acuity was comparable in the two groups: 0.57+/-0.35 (0.03-1.0) in the acrylic vs 0.39+/-0.34 (0.001-0.9) in the PMMA group ( p=0.83). CONCLUSIONS: Implantation of hydrophobic acrylic intraocular lenses in the capsular bag in children may be associated with less postoperative complications compared with implantation of PMMA lenses. This appears also to be true in children under age 6 years. The visual results seem comparable and correspond mainly to the underlying ocular pathology.

[Amblyopia of the fellow eye in assumed unilateral congenital fibrosis syndrome]. / Amblyopie des Partnerauges bei vermuteter unilateraler kongenitaler Fibrose.

BACKGROUND: Amblyopia of the ptotic eye in spite of head posturing and of the fellow eye in ptosis with motility disorders are well known. We emphasize the importance of exact ophthalmological and orthoptic examinations to avoid amblyopia in both ptosis and fellow eye, even in cases of mild ptosis, especially if they are combined with motility disorders. PATIENT: A 5 year-old girl presented to our outpatient clinic because of ptosis of the left eye and hypertropia of the right eye. Visual acuity of the right eye was 0.32 and of the left ptotic eye 1.0. Cycloplegic retinoscopy showed + 2.0 sphere in both eyes. Ocular motility showed a mild reduction of elevation of the left eye in ad- and abduction. This led to the diagnosis of congenital fibrosis syndrome of the inferior rectus muscle of the left eye. Due to the preferred fixation with the left ptotic eye and the consecutive deviation of the fellow eye amblyopia of the right eye had developed. Occlusion therapy of the left eye resulted in an improvement of visual acuity of the right eye to 0.9 and centralisation of fixation within one month. CONCLUSION: Even children with mild ptosis, especially in combination with motility disorders, require a complete ophthalmological and orthoptic examination to avoid amblyopia also of the fellow eye.

[Myokymia of the obliquus superior muscle and cryptogenetic epilepsy]. / Myokymie des Musculus obliquus superior und kryptogene Epilepsie.

BACKGROUND: Myokymia of the obliquus superior muscle is a rare episodic microtremor caused by uncontrolled activities of the trochlearis nerve fibres. Epilepsy is also caused by spontaneous discharges of neurons. In our report we present an associated epilepsy which to the best of our knowledge is described for the first time. PATIENT: An 61-year old man with twitches of the right eye for 6 weeks and a subjective feeling of eye movement was investigated at our hospital. His history was void of any ophthalmologic diseases. However, he suffered from cryptogenetic epilepsy known since childhood. The morphological and orthoptical findings of his eyes were normal. During the slit-lamp investigation a unilateral rotating microtremor of the right eye induced by looking downward was seen. The neurologic investigation, magnetic resonance imaging and assessment of the thyreoid function did not show further pathological results. The patient underwent treatment with carbamazepine. Under this therapy he did not show any symptoms of myokymia during follow-up. SUMMARY: To the best of our knowledge this is the first case of myokymia of the obliquus superior muscle associated to epilepsy. To our opinion, any case of this syndrome should be investigated for epilepsy. A causal relation is unlikely since the most probable etiologies are either spontaneous discharges of trochlear nucleus neurons or a close contact between vessel and nerve analogously to trigeminal neuralgia.

[Ocular myasthenic syndrome and systemic lupus erythematosus]. / Okuläres myasthenes Syndrom bei systemischem Lupus erythematodes.

BACKGROUND: Reports on association of systemic lupus erythematosus (SLE) and myasthenia gravis are sparse. CASE REPORT: An 40-year old woman complained of sudden onset of diplopia. A SLE was known for 6 years. Both eyes showed a deficit in upgaze, the right eye showed a deficit in abduction and a slight ptosis. Further ophthalmologic and neurologic status were normal. Magnetic resonance tomographic imaging of the brain and the results of the spinal fluid examination were unremarkable. Sonographic imaging and magnetic resonance tomographic imaging studies showed normal extraocular muscles. The edrophonium test (short acting inhibitor of acetylcholinesterase) was positive (elevation of the ptotic lid after injection of edrophonium). Acetylcholine receptor antibodies were elevated to 70 nmol/l (norm: < 0.25 nmol/l). Thoracic computed tomographic scan showed no evidence of a thymoma/thymus hyperplasia or thymus carcinoma. Systemic steroid treatment resolved the complaints within weeks. CONCLUSIONS: The patient with SLE had an ocular myasthenic syndrome. The etiology of the association of the two autoimmune diseases is not clear. SLE patients showing fatigue signs or pareses should be examined for myasthenia gravis. Patients with isolated ocular myasthenic syndromes should be examined for a generalized immunological disorder.

Comparison of 6-month results of implantation of the 1CU accommodative intraocular lens with conventional intraocular lenses.

OBJECTIVE: To evaluate the clinical results of implantation of the new 1CU accommodative intraocular lens (IOL) in cataract patients and to compare results with those of conventional IOLs. DESIGN: Nonrandomized comparative trial. PARTICIPANTS: Twenty eyes of 20 patients (mean age = 65.8+/-13.3 years) in the 1CU group and 20 eyes of 20 patients (mean age = 67.4+/-11.6 years) in the control group. METHODS: All patients underwent phacoemulsification and IOL implantation. The 1CU accommodative lens was used in 20 eyes, and conventional IOLs (polymethyl methacrylate, hydrophilic or hydrophobic acrylate) were used in the control group. Patients were observed prospectively, and 6-month data were analyzed. MAIN OUTCOME MEASURES: Accommodative ranges determined by 3 different methods (near point, defocusing, and retinoscopy). Secondary outcome measures were (1) increase of anterior chamber depth after topical application of 1% cyclopentolate eyedrops and (2) distance-corrected near visual acuity with Birkhäuser reading charts at 35 cm. RESULTS: We observed a higher accommodative range with all 3 methods (mean = 1.83+/-0.49 vs. 1.16+/-0.27 diopters [D] [near point], 1.85+/-0.43 vs. 0.64+/-0.21 D [defocusing], and 0.98+/-0.55 vs. 0.17+/-0.22 D [retinoscopy]), a larger increase of anterior chamber depth after cyclopentolate eyedrops (mean = 0.42+/-0.18 vs. 0.11+/-0.06 mm), and better distance-corrected near visual acuity (median = 0.4 vs. 0.2) in the 1CU group relative to the control group. All differences between the 2 groups were statistically highly significant (P<0.001). CONCLUSIONS: In the present study, the 1CU accommodative IOL showed increased accommodative range and better near visual acuity than a control group with conventional IOLs. Further research is necessary to confirm these results in masked, randomized, prospective studies and to confirm further the accommodative power of this group of new IOLs.

[Hemiatrophia faciei progressiva and tonic pupil]. / Hemiatrophia faciei progressiva und Pupillotonie.

BACKGROUND: A variety of infectious and autoimmune diseases are described in association with pupillotonia. To our knowledge there is only one report on pupillotonia associated with hemiatrophia faciei. We describe another patient with this rare association. The aim is to investigate possible associations between both diseases. PATIENT: A twenty five-year-old male patient with hemiatrophia faciei, epilepsy and pupillotonia of the right eye since his twelfth birthday was presented for the first time at the age of fourteen at our institution. The patient underwent a complete neurological and paediatric as well as otolaryngological investigation; there was also an investigation by the internist. The patient also underwent a complete serological investigation for infectious and autoimmune disorders as well as an investigation of the local and systemic vascular reactivity by the "Ocular cold pressor test". The follow-up time is 11 years. RESULTS: The clinical picture of our patient was an association of hemiatrophia faciei, epilepsy and pupillotonia. There was no evidence of a local hyperactivity of the sympathetic nervous system. The serological investigation showed an elevated value of antinuclear antibodies. CONCLUSIONS: We assume that in our case the pupillotonia as well as the hemiatrophia faciei and the epilepsy is caused by a common autoimmune factor. All other aetiologies for these three diseases were excluded. Furthermore, the occurrence of pupillotonia, hemiatrophia faciei and epilepsy was simultaneous.