Efficacy of allogenous fascia lata grafts in the management of lower eyelid retraction.

PURPOSE: To report on the use of allogenous fascia lata (FL) grafts in patients with lower eyelid retraction (LER). METHODS: In this retrospective study, a consecutive series of 27 patients (39 eyes) with LER who underwent lower eyelid elevation with FL was included. Examinations including measurement of the palpebral fissure vertical height (PFVH), the inferior scleral show distance, the margin reflex distance 2 (MRD 2), and the evaluation of conjunctival hyperemia were conducted at baseline and after a mean postoperative time of 25.9 ± 25.5 (5.0-81.0, median 13.0, last follow-up) months in all patients. RESULTS: At the last follow-up, a significant reduction of the PFVH (11.3 ± 1.7 versus 12.8 ± 2.1 at baseline, p < 0.001), the inferior scleral show distance (0.7 ± 1.0 mm versus 2.1 ± 1.1 at baseline, p < 0.001), and the MRD 2 (6.4 ± 0.9 versus 7.8 ± 1.3 at baseline, p < 0.001) occurred. The conjunctival hyperemia grading score (McMonnies) was significantly reduced (1.8 ± 0.7) at the last follow-up compared to baseline (2.6 ± 0.6, p < 0.001). No case of ectropion or entropion was observed at the last follow-up visit. CONCLUSION: In this case series, lower eyelid elevation with FL grafts as a spacer led to a significant reduction of the PFVH, MRD 2, inferior scleral show distance, and conjunctival hyperemia. No severe surgery-related complications occurred.

Elongation of the inferior rectus tendon with fascia lata graft for large vertical squint angles in patients with Graves' orbitopathy.

PURPOSE: To investigate the use of fascia lata (FL) grafts for inferior rectus muscle (IRM) tendon elongation in patients with large vertical squint angles with Graves' orbitopathy (GO). METHODS: In this retrospective study, we included a consecutive series of 20 eyes of 13 patients with GO who underwent IRM tendon elongation with FL. Orthoptic and ophthalmologic examinations including measurement of the head posture, the extent of deviation in primary position (PP), elevation, motility, and binocular diplopia at the tangent of Harms were conducted preoperatively and after a mean postoperative time of 10.8 (5.0-35.0) months in all patients. RESULTS: The mean total repositioning distance was 9.3 ± 3.6 (3.5-16.0) mm. Postoperatively, we found a significant increase in elevation (5.4 ± 2.4 vs. 2.7 ± 2.4 mm preoperatively, p = 0.011). A significant reduction in vertical squint angle (2.8 ± 3.7 vs. 20.2 ± 18.8 Δ preoperatively, p = 0.004), chin elevation (2.3 ± 3.7 vs. 12.9 ± 6.3° preoperatively, p < 0.001), extorsion in PP (0.1 ± 3.8 vs. 8.4 ± 7.8° preoperatively, p = 0.002), and in elevation (1.8 ± 4.8 vs. 11.1 ± 10.9° preoperatively, p = 0.004) occurred postoperatively. A mean dose-effect relation of 2.6 ± 2.9 Δ/mm was calculated. Postoperatively, the lower eyelid retraction was significantly increased (1.5 ± 1.4 vs. 0.4 ± 0.5 mm preoperatively, p = 0.005). CONCLUSION: IRM tendon elongation with FL is a feasible and effective procedure without relevant risk for surgery-related complications.

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability, mild hypocalcemia, muscle fatigue, asplenia, and ichthyosis. Using targeted sequencing and whole-exome sequencing, we identified the c.910C > T transition in a STIM1 allele (p.R304W) only in patients and not in their unaffected family members. STIM1 encodes stromal interaction molecule 1 protein (STIM1), which is a finely tuned endoplasmic reticulum Ca(2+) sensor. The effect of the mutation on the structure of STIM1 was investigated by molecular modeling, and its effect on function was explored by calcium imaging experiments. Results obtained from calcium imaging experiments using transfected cells together with fibroblasts from one patient are in agreement with impairment of calcium homeostasis. We show that the STIM1 p.R304W variant may affect the conformation of the inhibitory helix and unlock the inhibitory state of STIM1. The p.R304W mutation causes a gain of function effect associated with an increase in both resting Ca(2+) levels and store-operated calcium entry. Our study provides evidence that Stormorken syndrome may result from a single-gene defect, which is consistent with Mendelian-dominant inheritance.

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

In autoimmune myasthenia gravis (MG), the identification of antibodies and characterization of serological subgroups is of great importance for diagnosis and management of the disease. Our aims were to study the frequency of antibodies against lipoprotein-related protein 4 (LRP4), agrin, and titin using the most recent techniques, and to characterize corresponding clinical features and autoimmune diseases (AID) in 100 MG-patients. The antibody frequencies in the 55 AChR-antibody positive patients were 7% LRP4, 5% agrin, 53% titin, and in the 45 AChR-antibody negative patients 2% MuSK, 2% LRP4, 2% agrin, and 27% titin. LRP4-MG presented late-onset age, mild symptoms, good therapeutic response, and no thymic changes. Agrin-MG showed early onset age, mild-to-severe symptoms, and moderate treatment response. The phenotype of titin-MG depended on AChR-antibodies: AChR-antibody negative patients presented with mostly mild limb muscle weakness, whereas AChR-antibody positive patients showed more frequently severe symptoms, including myasthenic crisis, bulbar predominance, and thymoma. Additional AID were detected in 32% of MG-patients, most frequently Hashimoto's thyroiditis (21%). Based on our data, we recommend the detection of LRP4-antibodies for at least AChR-antibody negative MG-patients and titin-antibodies for all MG-patients. We propose taking an accurate medical history for typical symptoms of Hashimoto's thyroiditis in MG-patients.

Late onset esotropia as first symptom of a cerebellar tumor.

The authors present a case with a presumed neurologic cause of late onset esotropia. The first symptom was sudden occurrence of esotropia at the age of 3 3/4 years. An accommodative esotropia could be ruled out after the prescription of glasses. The squint angle showed significant variations at distance and near fixation. Eight months after the first examination intense headache appeared. The neuroophthalmologic examination and organic findings were inconspicuous, except for smooth pursuit which showed high latency of the abducting eye on both sides. MRI was performed and showed a 2-cm mass in the upper dorsal vermis diagnosed as pilocyte astrocytoma grade 1. After neurosurgery, the esotropia showed no tendency towards reduction. Four months later, a Faden operation was performed on the internal recti of both eyes, resulting in micro-esotropia. Immediately after eye muscle surgery only the Bagolini-test was positive. Currently, the patient is able to recognize the rings 1-7 in the Titmus-test and the Lang I test. Esotropia with greater esodeviation at distance is described in adults with lesions of the dorsal vermis of the cerebellum. We postulate that the esotropia in our case was probably the first symptom of a cerebellar tumor.