Clinical and surgical data of affected members of a classic CFEOM 1 family

BACKGROUND: Congenital fibiosis of the extraocular muscles (CFEOM1) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOM1 family. METHODS: Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed. RESULTS: All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients. CONCLUSIONS: Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family

The effect of stimulation technique on sympathetic skin responses in healthy subjects

The aim of this study was to collect normative data for sympathetic skin responses (SSR) elicited by electrical stimulus of the ipsilateral and contralateral peripheral nerves, and by magnetic stimulus of cervical cord. SSRs were measured at the mid-palm of both hands following electrical stimulation of the left median nerve at the wrist and magnetic stimulation at the neck in 40 healthy adult volunteers (mean age 52.2 ± 12.2 years, 19 males). The onset latency, peak latency, amplitude and area were estimated in “P” type responses (i.e., waveforms with a larger positive, compared to negative, component). SSR onset and peak latency were prolonged when the electrical stimulus was applied at the contralateral side (i.e., the SSR recorded in the right palm P < 0.001). The onset latency was similar on both sides during cervical magnetic stimulation. However, peak latency was faster on the left side (P < 0.03). Comparison of electrical and magnetic stimulation revealed that both the onset and peak latency were shorter with magnetic stimulation (P < 0.001). The latency of a SSR varies depending on what type of stimulation is used and where the stimulus is applied. Electrically generated SSRs have a longer delay and the delay is prolonged at the contralateral side. These factors should be taken into account when interpreting SSR data

International Consensus Statement on Rhinology and Allergy: Rhinosinusitis

Background: The 5 years since the publication of the first International Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR‐RS) has witnessed foundational progress in our understanding and treatment of rhinologic disease. These advances are reflected within the more than 40 new topics covered within the ICAR‐RS‐2021 as well as updates to the original 140 topics. This executive summary consolidates the evidence‐based findings of the document. Methods: ICAR‐RS presents over 180 topics in the forms of evidence‐based reviews with recommendations (EBRRs), evidence‐based reviews, and literature reviews. The highest grade structured recommendations of the EBRR sections are summarized in this executive summary. Results: ICAR‐RS‐2021 covers 22 topics regarding the medical management of RS, which are grade A/B and are presented in the executive summary. Additionally, 4 topics regarding the surgical management of RS are grade A/B and are presented in the executive summary. Finally, a comprehensive evidence‐based management algorithm is provided. Conclusion: This ICAR‐RS‐2021 executive summary provides a compilation of the evidence‐based recommendations for medical and surgical treatment of the most common forms of RS

Efficacy And Complications Of Dose Increments Of Botulinum Toxin-A In The Treatment Of Horizontal Comitant Strabismus

Purpose To investigate the efficacy and complications associated with dose increments of botulinum toxin-A (BTA) for comitant horizontal strabismus patients. Methods Twenty-five esotropic (ET) and 45 exotropic (XT) patients received 2.5-20 U of BTA injection. Parameters for achieving less than 10 prism dioptres (pd) of horizontal deviation and percentage correction of the pretreatment deviation were assessed for injections of less than 10 U and more than 10 U of BTA. Induced ptosis and vertical deviation were examined within and after 6 months of follow-up. Results The mean pretreatment deviations were 38.6 +/- 2.5 pd and 37.6 +/- 1.9 pd for the ET and XT groups, respectively. After receiving 1.6 and 1.5 injections on average, improvement to less than 10 pd at the primary position occurred in 32% of ET and 22% of XT patients; the difference was not statistically significant. The percentage corrections of the ET patients were 41.4 +/- 9.3% and 36.9 +/- 5.6% in those treated with less than 10 U and more than 10 U of BTA respectively; the difference between the two groups was insignificant. For the XT patients the values were 42.1 +/- 7.4% and 28.9 +/- 3.5% respectively, which also were not statistically significantly different. Frequency of induced ptosis was more common in ET than XT patients (p = 0.01) and this difference was more pronounced with increased doses of BTA (7.7% in ET and 5.3% in XT patients with less than 10 U of BTA, and 24.0% in ET and 4.3% in XT patients with more than 10 U of BTA). Ptosis resolved completely within 6 weeks in all cases. Induced vertical deviation with less than 10 U of BTA was encountered in one case of ET (11.1%, 9 pd) and in another case of XT (8.3%, 4 pd), increasing to 60.0% (2-20 pd) and 38.8% (4-16 pd) respectively with more than 10 U of BTA injection. In about a year, induced vertical deviation resolved in approximately 40%, and decreased in 30% of the cases. Conclusion Increasing the dose of BTA is clinically effective in larger deviations, although statistically indifferent, especially in ET compared with XT. However, an increased dose is accompanied by increased incidence of induced ptosis and vertical deviation. Ptosis is temporary, but vertical deviation may persist for a long time and may present a cosmetic problem for some patients when more than 10 U of BTA is used.WoSScopu

Clinical characteristics of microtropia

27th Annual Meeting of the European-Strabismological-Association -- JUN 06-09, 2001 -- FLORENCE, ITALYWOS: 000181916200021Introduction: To investigate clinical characteristics of microtropia. Methods: Twenty patients with primary microtropia were studied. Results: Irvine prism test was positive in all the patients by using prisms of different strengths and positions. All the patients had abnormal fusion at near. At distance, 15 patients had abnormal fusion by the BSG and 8 patients had abnormal fusion by the W4D. Ten patients had gross stereopsis and the rest had no measurable stereopsis. Conclusions: All patients with microtropia have abnormal fusion, which does not guarantee the presence of stereopsis. The difference in fuson between near and distance is due to the weakness of fusion. With occlusion treatment, amblyopia can be improved, whereas binocular defects of microtropia can not be improved.European Strabismol Asso

A Clinically Variant Fibrosis Syndrome In A Turkish Family Maps To The Cfeom1 Locus On Chromosome 12

Objectives: To describe the phenotype of a Turkish family with variably expressed congenital fibrosis of the extraocular muscles (CFEOM), and to determine the genetic location of their disorder. Methods: Participants were examined and had blood extracted for genetic analysis. The clinical features of the family's disorder were studied, and the disorder was tested for linkage to the 3 known CFEOM loci (CFEOM1, CFEOM2; and CFEOM3). Results: Twenty-nine affected and 31 unaffected family members participated in the study. Eighteen affected individuals had congenital bilateral ptosis and restrictive infraductive (downward) ophthalmoplegia, consistent with the published descriptions of classic CFEOM families linked to the CFEOM1 locus. Eleven affected individuals, however, had eye(s) in a neutral primary position, residual upgaze, and/or absence of ptosis, thus deviating from previous descriptions of CFEOM1-linked families. Analysis of the autosomal dominant variably expressed disorder in this family revealed linkage to the CFEOM1 locus on chromosome 12 with a maximum lod score of 10.8 at D12S85. Conclusions: This Turkish Family segregates a variably expressed form of CFEOM that most closely resembles CFEOM3-linked CFEOM, but maps to the CFEOM1 locus. Clinical Relevance: These data establish that there is much greater phenotypic heterogeneity at the CFEOM1 locus than previously reported, and this may blur our ability to distinguish the different CFEOM loci based solely on clinical presentation.WoSScopu

Is Activated Factor Vii Associated with Retinal Vein Occlusion?

Aim-To determine whether a newly identified thrombophilia factor, activated factor VII (FVIIa), is associated with retinal vein occlusion (RVO). Methods-54 consecutive cases with RVO seen between March and September 1999 were included in the study. 22 cases had central retinal vein occlusion (CRVO) and 32 had branch retinal vein occlusion (BRVO). Ophthalmoscopic examination with detailed medical history was followed by blood analyses for liver and renal functions, cholesterol, triglycerides, complete blood count, and coagulation factors including protein C activity, free protein S, antithrombin III, fibrinogen, and factor VIIa (FVIIa). Data were compared with those of the control group, composed of 19 cases under ophthalmological follow up for refractive errors, presbyopia, or senile cataract. Results-Hypertension was highly prevalent in cases with BRVO. Complete blood count, and liver and kidney function tests were within normal limits in the study group. Two cases had low protein C activity, and one had low free protein S. FVIIa levels were significantly higher in the RVO group than in the control group (p=0.0004). There was no significant difference in FVIIa levels between the CRVO and BRVO groups (p=0.51). Conclusion-No haematological parameter except FVIIa differed significantly from that of the control group. Elevation of FVIIa level may play a part in the pathophysiology of both CRVO and BRVO.WoSScopu

Trochlear nerve palsy in herpes zoster opthalmicus

Herpes zoster ophthalmicus (HZO) causes a wide range of ocular manifestations, and ophthalmoplegia is among the infrequent complications. The most commonly affected nerve is the third nerve, the least affected is the trochlear nerve. Herein, we describe two cases of isolated fourth nerve palsy associated with HZO. In both cases, the onset of ophthalmoplegia was shortly after the appearance of skin lesions, and both of the patients received oral acyclovir. Complete recovery was observed in a period of a few months