Fibrosis Of Extraocular Muscles Research Articles

Congenital Fibrosis of Extraocular Muscles: A Case Report

Unprogressive unilateral or bilateral limited ocular motility, with or without ptosis, is a hallmark of the uncommon congenital disease known as congenital fibrosis of extraocular muscle (CFEOM). Fibrosis of the extraocular muscle leads to optic nuclear dysplasia or hypoplasia and reduced ocular mobility, which in turn causes it. diverse phenotypes of illness might cause patients to report with diverse presentations.

MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis.

To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and congenital fibrosis of the extraocular muscles (CFEOM), who present with various cranial nerve anomalies in an attempt to enhance the clinical diagnostic process. A case-control study was conducted to evaluate 27 patients with DRS and 14 patients with CFEOM. All patients underwent MRI scans of the brainstem and orbital examination. Neurodevelopmental assessments were conducted through MRI, and maximum cross-sectional area and volumes of EOMs were obtained. Three types of models were constructed using machine learning decision tree algorithms based on EOMs to predict disease diagnosis, cranial nerve abnormalities, and clinical subtypes. Patients with bilateral CN VI abnormalities had smaller volumes of LR, MR, and IR muscles compared to those with unilateral involvement (P < 0.05). Similarly, patients with CFEOM and unilateral third cranial nerve abnormalities had a smaller maximum cross-section of the affected eye's SR compared to the contralateral eye (P < 0.05). In patients with both CN III and CN VI abnormalities, the volume of SR was smaller than in patients with CN III abnormalities alone (P < 0.05). The prediction model using EOMs volume showed a diagnostic precision of 82.5% for clinical cases and 60.1% for predicting cranial nerve abnormalities. Nonetheless, the precision for identifying clinical subtypes was relatively modest, at only 41.7%. The distinctive volumetric alterations in EOMs among individuals exhibiting distinct cranial nerve anomalies associated with DRS or CFEOM provide valuable diagnostic insights into to Congenital Cranial Neurodevelopmental Disorders (CCDDs). MRI analysis of EOMs should thus be regarded as a crucial diagnostic modality.

Genetic investigation in a four-generation Chinese family with congenital fibrosis of extraocular muscles and keratoconus

Here, we have reported the genetic and clinical characteristics of four generations of a family patient from China with congenital fibrosis of extraocular muscles 1 (CFEOM1) and keratoconus (KC). The history of diseases, clinical observations, and blood samples of all family members were collected. A total of 100 healthy participants were recruited as normal controls. The whole exome sequencing of the genomic DNA and polymerase chain reaction were performed on samples obtained from the controls and their family members to verify the gene variants. The functional analyses of the variants were performed by using different software. Two single nucleotide polymorphisms were detected in the proband and other patients in his families, including a heterozygous missense variation, g.39726207C > T (c.2860C > T, p.R954W, rs121912585), in the third highly conserved coiled-coil domain of KIF21A, and a heterozygous missense variant, g.30664732A > C (c.136A > C, p.S46R, rs200111443) in TGFBR2. The variant p.R954W in KIF21A was predicted to be pathogenic using software, whereas p.S46R in TGFBR2 was predicted to be of uncertain significance (VUS). Thus, KC might have occurred in the proband and his daughter because of a combination of genetic mutations and involuntary eye rubbing induced by CFEOM1. This is the first case of concomitant KC in a family having CFEOM1. Thus, the study provides new information about patients with KC having CFEOM1. Furthermore, the study suggests that attention should be paid to the early detection and diagnosis of KC in patients with CFEOM1.

Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis

ObjectiveTo compare the outcome of silicone sling frontalis suspension (FS) surgery in children with simple congenital ptosis and children with complex ptosis. DesignA retrospective cohort study. ParticipantsAll pediatric patients who underwent silicone sling FS surgery between 2009 and 2020 at a single centre. MethodsPatients were divided based on etiology into simple congenital ptosis and complex congenital ptosis. Pre- and postoperative margin-to-reflex distance (MRD1) measurements were determined from clinical photographs. Main outcome measures were assessed as differences in improvement in eyelid height and reoperation rate between the groups. ResultsTwo-hundred and eight children were included: 139 simple and 69 complex cases, with 83 females (40%). Mean (±SD) age at intervention was 1.9 ± 2.9 years. Complex cases included blepharophimosis epicanthus inversus syndrome (n = 35), Marcus Gunn jaw-winking syndrome (n = 12), oculomotor palsy (n = 8), congenital fibrosis of extraocular muscles (n = 3), chronic progressive external ophthalmoplegia (n = 3), and others. Mean MRD1 improved by an average of 1.6 mm in both groups. Repeat ptosis correction was performed in 50 of 171 patients (29%) without a history of failed ptosis procedures, and this rate was similar between simple and complex cases. Children under 3 years of age had higher rates of repeat ptosis repair than older children (n = 59 of 175 [34%] vs n = 5 of 33 [15%]; p = 0.03, χ2 test). ConclusionsSilicone sling FS has a favourable outcome in 70% of pediatric patients. Preoperative and final MRD1 and reoperation rates were similar between both groups, suggesting that despite the higher complexity in atypical cases, the outcome is similar.

Pulled-in-two syndrome in strabismus surgery for congenital fibrosis of the extraocular muscles

ABSTRACT Purpose: The aim of this study is to present six cases of pulled-in-two syndrome (PITS) in strabismus surgeries and to discuss our prevention and management strategies. Methods: This is a retrospective study presenting cases of PITS during strabismus operations. The medical records of the subjects who underwent operation in the strabismus unit of Beyoglu Eye Training and Research Hospital were reviewed retrospectively, from January 2000 till March 2022. Detailed ophthalmological examination records and angle of deviation were noted. Results: A total of six cases (four males and two females) with a mean age of 37.2 ± 28.0 (min 9–max 71) years were included in this study. All of the cases had congenital fibrosis of extraocular muscles (CFEOM). The most commonly involved muscle was medial rectus (83%). Majority of cases (67%) were adults. In all cases, the muscle was found and reattached to the globe. No patients had diplopia after surgery. Conclusion: PITS is a rare complication that can be seen during strabismus surgeries, and CFEOM patients are in the risk group. Therefore, surgeons should be cautious and prepared in risky patients to be able to manage this complication.

Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report

BackgroundCrouzon syndrome, a rare genetic disorder characterized by premature closure of coronal sutures, results in skull and facial deformities along with abnormal brain and ocular development.Case presentationHere, we report a case of a 27-year-old ethnic han male patient who presented with complex binocular strabismus secondary to Crouzon syndrome. At the time of surgery, extraocular muscles were found to be fibrotic and results of the pathological examination revealed degeneration of muscle fibers, which were replaced by adipose tissue. The entire exome sequencing DNA testing indicated that the patient and his father possessed the fibroblast growth factor receptor 2 (FGFR2) gene c.G812T:p.G271V heterozygous mutation. Binocular strabismus corrective surgery was performed in this patient with a satisfactory outcome.ConclusionsThis case demonstrates that Crouzon syndrome patients can show an FGFR2 gene c.G812T:p.G271V mutation and display clinical symptoms such as extraocular muscle fibrosis, exotropia, exophthalmos, and a pointed head deformity.

Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients. A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations.Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patientsand 15 patientsfrom 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES wasperformed in 122 CCDDspatients.Tenpathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM)and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes. This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.

Disulfiram Exerts Antifibrotic and Anti-Inflammatory Therapeutic Effects on Perimysial Orbital Fibroblasts in Graves' Orbitopathy.

Fibrosis of extraocular muscles (EOMs) is a marker of end-stage in Graves’ orbitopathy (GO). To determine the antifibrotic and anti-inflammatory therapeutic effects and the underlying molecular mechanisms of disulfiram (DSF) on perimysial orbital fibroblasts (pOFs) in a GO model in vitro, primary cultures of pOFs from eight patients with GO and six subjects without GO (NG) were established. CCK-8 and EdU assays, IF, qPCR, WB, three-dimensional collagen gel contraction assays, cell scratch experiments, and ELISAs were performed. After TGF-β1 stimulation of pOFs, the proliferation rate of the GO group but not the NG group increased significantly. DSF dose-dependently inhibited the proliferation, contraction, and migration of pOFs in the GO group. Additionally, DSF dose-dependently inhibited fibrosis and extracellular matrix production markers (FN1, COL1A1, α-SMA, CTGF) at the mRNA and protein levels. Furthermore, DSF mediates antifibrotic effects on GO pOFs partially through the ERK-Snail signaling pathway. In addition, DSF attenuated HA production and suppressed inflammatory chemokine molecule expression induced by TGF-β1 in GO pOFs. In this in vitro study, we demonstrate the inhibitory effect of DSF on pOFs fibrosis in GO, HA production, and inflammation. DSF may be a potential drug candidate for preventing and treating tissue fibrosis in GO.

BILATERAL CONGENITAL PTOSIS WITH CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES (CFEOM) IN MONOZYGOTIC TWINS

Cases of congenital ptosis are rare, that too occurring in twins. We are presenting a case of mono zygotic twins with bilateral ptosis with congenital fibrosis of extraocular muscles (CFEOM). A 5-year-old boy child and his twin brother who are monozygotic twins presented with bilateral ptosis. Both children had been diagnosed as having congenital fibrosis of extraocular muscles (CFEOM). Parents have refused surgical intervention for the extraocular muscle weakness. They were advised, if the twins complained of any visual abnormality, they should be brought to the ophthalmologists for further assessment.

KIF21A regulates breast cancer aggressiveness and is prognostic of patient survival and tumor recurrence.

Invasion of carcinoma cells into surrounding tissue affects breast cancer staging, influences choice of treatment, and impacts on patient outcome. KIF21A is a member of the kinesin superfamily that has been well-studied in congenital extraocular muscle fibrosis. However, its biological relevance in breast cancer is unknown. This study investigated the functional roles of KIF21A in this malignancy and examined its expression pattern in breast cancer tissue. The function of KIF21A in breast carcinoma was studied in vitro by silencing its expression in breast cancer cells and examining the changes in cellular activities. Immunohistochemical staining of breast cancer tissue microarrays was performed to determine the expression patterns of KIF21A. Knocking down the expression of KIF21A using siRNA in MDA-MB-231 and MCF7 human breast cancer cells resulted in significant decreases in tumor cell migration and invasiveness. This was associated with reduced Patched 1 expression and F-actin microfilaments. Additionally, the number of focal adhesion kinase- and paxillin-associated focal adhesions was increased. Immunohistochemical staining of breast cancer tissue microarrays showed that KIF21A was expressed in both the cytoplasmic and nuclear compartments of carcinoma cells. Predominance of cytoplasmic KIF21A was significantly associated with larger tumors and high grade cancer, and prognostic of cause-specific overall patient survival and breast cancer recurrence. The data demonstrates that KIF21A is an important regulator of breast cancer aggressiveness and may be useful in refining prognostication of this malignant disease.

Quantitative T1 mapping MRI for the assessment of extraocular muscle fibrosis in thyroid-associated ophthalmopathy.

We aimed to investigate the performance of T1 mapping and its histological correlation with extraocular muscle fibrosis in thyroid-associated ophthalmopathy (TAO). We prospectively recruited 12 cases of active TAO, 12 cases of inactive TAO, and 15 cases of control subjects. All participants underwent magnetic resonance imaging (MRI) scan with pre-/postcontrast T1 mapping and short-time inversion-recovery (STIR) sequence. The images were analyzed to obtain precontrast T1, extracellular-volume (ECV) fraction on T1 mapping, and signal-intensity ratio (SIR) on STIR for each rectus. Muscle biopsy was performed at lateral rectus to quantify-collagen volume fraction, glycosaminoglycan (GAG)-volume fraction, and extracellular space component. The relationship between MRI and histopathology was examined with Pearson correlation coefficient. The active TAO group was characterized with GAG accumulation, while the inactive TAO group presented with substantial fibrosis. The MRI parameters achieved acceptable interobserver and intraobserver agreement. The precontrast T1 and ECV remarkably increased in the TAO groups than the control group, and ECV positively correlated with collagen-volume fraction (r = 0.913) and extracellular-space component (r = 0.886) in the inactive TAO group. The SIR statistically increased in the active TAO group, and SIR positively correlated with GAG-volume fraction in all three groups. The performance of ECV (cutoff > 48.1%) to screen out extraocular muscle fibrosis in inactive TAO was 60.9% sensitivity and 93.3% specificity. The ECV parameter on T1 mapping MRI is a reliable tool to quantify extraocular muscle fibrosis, providing insights into noninvasive evaluation of pathological changes in TAO orbit. ChiCTR2000040394; Date of registration: 28 November 2020.

Sliding shape extraocular muscle transposition with plication: Long-term results.

This study aims to evaluate the long-term results of sliding shape extraocular muscle transposition, which is a novel operation method of delivering both vascular protection and strengthening of the muscles and transposition of the muscles. The patients' files were scanned retrospectively. All patients underwent a complete eye examination in addition to motility examination, both preoperatively and postoperatively. Patients were followed up for at least 1year. Pre- and postoperative deviation measurement values and transposition effects were compared statistically. The two parameters were evaluated separately. In patients where 7-mm (or greater) resection was planned, the complete muscle widening transposition procedure was successful. Only two-thirds of transpositions could be achieved in patients who underwent less than 7mm of strengthening. There was no anterior segment ischemia in the patients who underwent three rectus' muscle surgery in the same eye. Transposition effects were perfect in those whose vertical deviation was not due to monocular elevation deficiency. While resection effect was excellent in those MED (monocular elevation deficiency) and CEOMF (congenital extraocular muscle fibrosis) cases, transposition effects were limited but found at similar rates as with the standard resection and transposition procedures in CCDD (congenital cranial dis-innervation diseases) (R2-1). Even transposition effects were limited in CCDD. 'Sliding shape' design extraocular muscle plication was found to be a simple, safe, and effective procedure for patients who needed resection and transposition operation.

Dixon-T2WI magnetic resonance imaging at 3tesla outperforms conventional imaging for thyroid eye disease.

To determine the diagnostic performances of a single Dixon-T2-weighted imaging (WI) sequence compared to a conventional protocol including T1-, T2-, and fat-suppressed T2-weighted MRI at 3T when assessing thyroid eye disease (TED). This IRB-approved prospective single-center study enrolled participants presenting with confirmed TED from April 2015 to October 2019. They underwent an MRI, including a conventional protocol and a Dixon-T2WI sequence. Two neuroradiologists, blinded to all data, read both datasets independently and randomly. They assessed the presence of extraocular muscle (EOM) inflammation, enlargement, fatty degeneration, or fibrosis as well as the presence of artifacts. The Wilcoxon signed-rank test was used. Two hundred six participants were enrolled (135/206 [66%] women, 71/206 [34%] men, age 52.3±13.2 years). Dixon-T2WI was significantly more likely to detect at least one inflamed EOM as compared to the conventional set (248/412 [60%] versus 228/412 [55%] eyes; (p= 0.02). Dixon-T2WI was more sensitive and specific than the conventional set for assessing muscular inflammation (100% versus 94.7% and 71.2% versus 68.5%, respectively). Dixon-T2WI was significantly less likely to show major or minor artifacts as compared to fat-suppressed T2WI (20/412 [5%] versus 109/412 [27%] eyes, p< 0.001, and 175/412 [42%] versus 257/412 [62%] eyes, p< 0.001). Confidence was significantly higher with Dixon-T2WI than with the conventional set (2.35 versus 2.24, p= 0.003). Dixon-T2WI showed higher sensitivity and specificity and showed fewer artifacts than a conventional protocol when assessing thyroid eye disease, in addition to higher self-reported confidence. • Dixon-T2WI has better sensitivity and specificity than a conventional protocol for assessing inflamed extraocular muscles in patients with thyroid eye disease. • Dixon-T2WI shows significantly fewer artifacts than fat-suppressed T2WI. • Dixon-T2WI is faster and is associated with significantly higher self-reported reader confidence as compared to a conventional protocol when assessing inflammatory extraocular muscles.

A rare association of congenital fibrosis of extraocular muscles with keratoconus and bilateral sensorineural hearing loss: A co-incidence or some syndrome?

Congenital fibrosis of extraocular muscles (CFEOM) is an inherited restrictive ocular motility disorder characterized by unilateral or bilateral horizontal and/or vertical gaze impairment with ptosis. Keratoconus is a bilateral asymmetrical corneal ecstatic disease with multifactorial etiology, including complex interaction of both genetic and environmental factors. We report a case of a 29-year-old female who presented with chief complaints of bilateral diminution of vision and drooping of eyelids since early childhood with a history of seizures for 1 year. Visual acuity at presentation was hand movement close to face with accurate projection of rays in both the eyes. Contrast-enhanced magnetic resonance imaging of the brain and orbit revealed partially empty sella, neurocysticercosis, and bilateral atrophy of extraocular muscles. On detailed examination, she was found to have CFEOM type 1A (CFEOM1A, autosomal dominant inheritance) with bilateral advanced keratoconus, bilateral sensorineural hearing loss, bilateral presenile cataract, and neurocysticercosis. The association of CFEOM1A, keratoconus, and sensorineural hearing loss is not reported in the literature to date. Whether this association is co-incidental or part of some new syndrome needs to be evaluated further.

Inhibition of Fibrotic Contraction by Sirolimus (Rapamycin) in an Ex Vivo Model of Thyroid Eye Disease.

Thyroid eye disease (TED) is characterized by orbital inflammation and complicated by extraocular muscle fibrosis. Treatment with rapamycin/sirolimus has been reported to improve ocular motility and disease manifestations in TED. Whether this resulted from a primary antifibrotic effect on fibroblasts or was secondary to immune-suppression is unclear. In vitro contractility studies of primary orbital fibroblasts. Cells from patients with TED and controls were treated with rapamycin [mechanistic target of rapamycin an (mTOR) inhibitor] and MHY1485 (an mTOR stimulator) as well as inhibitors upstream in the same signaling cascade (saracatinib and befatinib). At concentrations consistent with the therapeutic dosing range in humans, rapamycin/sirolimus significantly reduces fibrosis in orbital fibroblasts from TED patients and controls in vitro. This effect is separate from, and in addition to, its immune suppressive effect. mTOR-driven fibrotic activity is greater in TED-derived fibroblasts and can be blocked also upstream of mTOR by inhibition of src. There was no adverse effect on cell survival. The authors present evidence for a direct antifibrotic effect of rapamycin/sirolimus in primary orbital fibroblasts. Targeting mTOR signaling presents a further and adjunctive treatment of TED alongside other immune-suppressive agents. By acting downstream of IGF1-R, sirolimus may offer a cost-effective alternative to teprotumumab therapy. Clinical case reports, now supplemented by this in vitro evidence, support the initiation of a clinical trial to treat the fibrotic sequelae of TED with this already-approved agent. Such an "off-the-shelf" therapy is a welcome prospect for TED treatment, particularly one available at a low price.

A reformed “release hypothesis” for Marcus Gunn Syndrome, based on newer clinic observations and experimental evidences

Marcus Gunn Syndrome (MGS), mostly occurring in congenital ptosis patients, is characterized by jaw movement evoking ptotic eyelid retraction, followed by collapse. Inverted, bilateral and acquired MGS were also reported. Some cases manifest MGS only temporarily in life. These features suggest MGS may be due to multiple pathogeneses, which are still unclear. People also classify MGS as a kind of trigeminal oculomotor synkenesis (TOS), like Duane syndrome (DS), in which ocular adduction prompts eyelid moving or eyeball retraction. The most popular hypothesis for TOS is congenital miswiring, as evidence supporting this hypothesis is found in DS cases: hypoplasia abducens nerve fusing with a branch of oculomotor nerve is observed. Seven mutant genes have been identified associated with TOS and two of them are found among MGS cases. Accordingly, these mutant genes may dominate cranial nerve misconnection and generate TOS. However, unlike in DS case, evidence of miswiring is not encountered in most MGS cases. The fact is that two “MGS genes” are from congenital fibrosis of extraocular muscle (CFEOM) cases presenting with associated MGS. But most of MGS cases do not suffer CFEOM. Thus, mutant genes dominated congenital miswiring may not be the pathogenesis for the majority of MGS. As an alternate pathogenic pathway, a “release hypothesis” proposed that MGS is a primitive physiologic reflex that became suppressed during phylogenetic development but could be released under certain pathologic conditions. This hypothesis was and is overlooked because the hypothesized reflex arc has not been defined. Decades ago, a neural tract tracing study in Xenopus revealed a direct projection from masticator afferent mesencephalic trigeminal nucleus (Vme) neurons to oculomotor and trochlear nucleus (III/IV). In clinical studies, co-firing of pterygoid muscle and levator palpebrae was recorded by electromyography during onset of MGS, and stimulating pterygoid muscle nerve elicited eyelid retraction. Recently, retraction of the ipsilateral eyelid by stimulating the trigeminal motor root was even observed in cases without congenital ptosis and MGS, highlighting the existence of a latent pathway. In rats, recently we demonstrated projections from the Vme neurons to the III/IV, and to their premotor neurons in interstitial nucleus of Cajal by neural tract tracing and electrophysiologic studies. Fos expression in pre-oculomotor neurons was induced by repeated down stretching the lower jaw. Combining previous and our own studies, we assumed the Vme neurons is excited when jaw moves and in turn, some eyelid activity related III motoneurons are activated through projections of Vme to oculomotor system, like in Xenopus. Genetic factors may dominate to what extent this primitive reflex-arc is preserved, which consequently determines phenotype.

Exploring the Role of SRC in Extraocular Muscle Fibrosis of the Graves' Ophthalmopathy.

The Graves’ disease is an autoimmune disease highly associated with thyroid cancer. The Graves’ ophthalmopathy (GO) is a special Graves’ disease with inflammatory ophthalmopathy being a typical extrathymic complication. GO is caused by the formation of orbital fat and extraocular muscle fibrosis due to the inflammation of orbital connective tissues. Thus, controlling extraocular muscle fibrosis is critical for the prognosis of GO. The objective of this study is to identify and experimentally validate key genes associated with GO and explore their potential function mechanisms especially on extraocular muscle fibrosis. Specifically, we first created a GO mouse model, and performed RNA sequencing on the extraocular muscles of fibrotic GO mice and controls. SRC was identified as the most significant unstudied differentially expressed gene between GO mice and controls. Thus, we conducted a few in vitro analyses to explore the roles and functions of SRC in GO, for which we selected primary cultured orbital fibroblast (OF) as the in vitro cell line model. It is known that myofibroblast (MFB), which expresses α-SMA, is an important target cell in the process of fibrosis. Our experiment suggests that TGF-β can induce the transformation from OF to MFB, however, the transformation was inhibited by silencing the SRC gene in OF. In addition, we also inhibited TGF-β/Smad, NF-κB, and PI3K/Akt signaling pathways to analyze the interaction between these pathways and SRC. In conclusion, the silence of SRC in OF can inhibit the transformation from OF to MFB, which might be associated with the interaction between SRC and a few pathways such as TGF-β/Smad, NF-κB, and PI3K/Akt.

A Rare Case of Twins with Bilateral Congenital Ptosis – A Case Report

Cases of congenital ptosis are rare, let alone bilateral and occurring in twins. There are many diagnostic dilemmas, often needing genetic testing and advanced imaging such as magnetic resonance imaging.This case report will look at the case of a twin with this interesting feature who are presented to a primary care clinic. It will center around how the diagnosis of congenital fibrosis of extraocular muscles was reached and what management options are available for this twin.International Journal of Human and Health Sciences Vol. 04 No. 02 April’20 Page : 142-144

The Effect of Horizontal Rectus Muscle Surgery on Distance-Near Incomitance

To determine the effect of horizontal rectus muscle surgery on distance-near incomitance. Prospective, comparative, interventional case series. Prospective evaluation of patients >7 years old who had medial or lateral rectus muscle surgery at the University of Arkansas Medical Center or Arkansas Children's Hospital between December 2009 and January 2012. Prism and alternate cover testing was performed at distance (6 m) and near (0.3 m) fixation after >1 hour of monocular occlusion at preoperative and postoperative examinations within 1week, and closest to 1 year after surgery. The change in distance-near incomitance was calculated. Patients with extraocular muscle fibrosis or paralysis were excluded. Forty-five patients met inclusion criteria. Twenty-five patients had medial rectus muscle surgery, and 20 patients had lateral rectus muscle surgery. Postoperative examinations showed a change in distance-near incomitance ≤10 prism diopters (PD) in 42 of 44 patients evaluated within 1week after surgery and in all 28 patientsevaluated 6-24months after surgery. Horizontalrectus muscle surgery did not induce a clinically significant change in distance-near incomitance (±2 PD equivalence, TOST confidence interval,-1.8+1.6 PD, P value= 0.014). Contrary to traditional teaching, medial rectus muscle surgery was not more likely to induce a greater effect at near fixation (P= 0.80) and lateral rectus muscle surgery was not more likely to induce a greater effect at distance fixation (P > 0.99). Horizontal rectus muscle surgery does not induce a clinically significant effect on distance-near incomitance. Contrary to traditional teaching, medial rectus muscle surgery does not induce a greater effect on ocular alignment at near fixation and lateral rectus muscle surgery does not induce a greater effect on ocular alignment at distance fixation. It is not necessary to consider distance-near incomitance when choosing between medial rectus and lateral rectus muscle surgery.

When muscle meets bone: a technique for suturing the lateral rectus muscle to the orbital wall

Lateral rectus disinsertion and reattachment to the lateral orbital wall has been previously described as a successful technique for satisfactory ocular alignment in patients with oculomotor cranial nerve paralysis and congenital cranial nerve dysinnervation disorder. We present a video of left lateral rectus disinsertion and reattachment to the lateral orbital rim combined with left medial rectus plication in a 9-year-old girl with presumed congenital fibrosis of extraocular muscles.