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International Ophthalmology Apr 2024Patients with thyroid eye disease (TED) can present with asymmetric disease. The purpose of this study was to evaluate the prevalence of asymmetric TED in an Australian...
PURPOSE
Patients with thyroid eye disease (TED) can present with asymmetric disease. The purpose of this study was to evaluate the prevalence of asymmetric TED in an Australian cohort and investigate clinical, biochemical, and radiological associations of asymmetric TED.
METHODS
This was a retrospective study of patients with TED who underwent Hertel exophthalmometry and orbital computed tomography (CT) scans. Asymmetry was defined as a difference in the globe protrusion of ≥ 3 mm using Hertel exophthalmometry. Data was collected on patient demographics, clinical disease presentation, thyroid function tests and antibody levels. Muscles volumes were determined by manually segmenting the extraocular muscles on CT scans using a commercially available software.
RESULTS
172 orbits from 86 patients were included in the study. 28 (33%) patients had asymmetric TED. No significant differences were observed in age, gender, thyroid hormone status, anti-thyroid peroxidase levels, thyroid stimulating hormone receptor antibodies, disease activity status, or dysthyroid optic neuropathy between the asymmetric and non-asymmetric groups. The extraocular muscle volumes were significantly higher in the asymmetric orbit compared to its contralateral orbit.
CONCLUSION
Asymmetric TED is a reasonably common occurrence in the course of TED. It is associated with higher extraocular muscle volumes, suggesting muscle enlargement as one of the underlying contributors to asymmetric proptosis. Thyroid eye disease should be considered in the differential of asymmetric orbital inflammatory disease.
Topics: Humans; Male; Female; Retrospective Studies; Exophthalmos; Graves Ophthalmopathy; Middle Aged; Oculomotor Muscles; Aged; Tomography, X-Ray Computed; Adult; Orbit; Prevalence; Aged, 80 and over; Australia
PubMed: 38678129
DOI: 10.1007/s10792-024-03141-6 -
Journal of Neuro-ophthalmology : the... Mar 2024Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the...
BACKGROUND
Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the oculomotor nerve (CN III). The purposes of this study were to investigate the morphological characteristics of the oculomotor nerve (CN III), the abducens nerve (CN VI), and the extraocular muscles in patients with clinically diagnosed Duane retraction syndrome (DRS) using MRI. In addition, we assessed the association between ocular motility, horizontal rectus muscle volumes, and CN III/VI in patients with Duane retraction syndrome (DRS).
METHODS
The study comprised 20 orthotropic control subjects (40 eyes) and 42 patients with Duane syndrome (48 eyes), including 20 patients with DRS Type I (24 eyes), 5 patients with DRS Type II (6 eyes), and 17 patients with DRS Type III (18 eyes). Three-dimensional (3D) T1/2 images of the brainstem and orbit were obtained to visualize the cranial nerves, especially the abducens (VI) and oculomotor (III) nerves, as well as extraocular muscles.
RESULTS
Based on the clinical classification, among 42 patients, MRI showed that the abducens nerves (CN VI) on the affected side were absent in 24 of 24 eyes (100%; 20 patients) with Type I DRS and in 16 of 18 eyes (88%; 16 patients) with Type III DRS. However, CN VI was observed in 6 of 6 eyes (100%; 5 patients) with Type II DRS and in 2 of 18 eyes (11%) with Type III DRS. CN III was observed in all patients. The oculomotor nerves on the affected side were thicker than those on the nonaffected contralateral side in DRS Type I ( P < 0.05) and Type III ( P < 0.05), but not in DRS Type II. Smaller LR and larger MR volumes were shown in the affected eye than that in the nonaffected eye in DRS Types I and III. Based on the presence or absence of CN VI, there was a tendency for thicker oculomotor nerves in the affected eye than in the nonaffected eye in the absence groups ( P < 0.05). However, no significant difference was found in the present group. In the CN VI absence groups, similar results were found in the affected eyes than in the nonaffected eyes as in DRS Types I and III. In addition, the presence of CN VI was correlated with better abduction ( P = 0.008). The LR and MR volumes have positive correlations with the oculomotor nerve diameter in the affected eye. However, there was no correlation between the range of adduction/abduction and the LR/MR ratio in patients with or without an abducens nerve.
CONCLUSIONS
Different types of DRS have different characteristic appearances of CN VI and CN III on MRI. Horizontal rectus muscles have morphological changes to adapt to dysinnervation of CN VI and aberrant innervation of CN III. Thus, these neuroimaging findings may provide a new diagnostic criterion for the classification of DRS, improving the comprehension of the physiopathogenics of this disease.
Topics: Humans; Duane Retraction Syndrome; Abducens Nerve; Oculomotor Muscles; Orbit; Magnetic Resonance Imaging
PubMed: 37682628
DOI: 10.1097/WNO.0000000000001909 -
Operative Neurosurgery (Hagerstown, Md.) Apr 2021Orbital metastatic lesions are rare entities1-3 best treated with radical surgical resection with preservation/improvement of neurological and visual function.1-9 Renal...
Orbital metastatic lesions are rare entities1-3 best treated with radical surgical resection with preservation/improvement of neurological and visual function.1-9 Renal cell metastases, in particular, respond less favorably to radiation.9 To our knowledge, an operative video of microsurgical resection of a renal cell carcinoma metastasis to the superior orbital fissure and orbit has not been reported. A patient presented with worsening right eye vision as demonstrated on preoperative visual field testing and found to have a 3 × 1 × 1 cm lesion in the orbit and superior orbital fissure. The patient was placed supine and stealth neuronavigation was used to aid in tumor localization and extension. A cranio-orbital craniotomy and pretemporal exposure2,10,11 were performed to allow extradural dissection of the dura propria off the lateral wall of the cavernous sinus. Right-sided extradural cranial nerves II, III, IV, V1, and V2 were identified, and a high-speed diamond drill was used to perform extradural anterior clinoidectomy and optic nerve decompression. Microsurgical resection of the intraorbital tumor components was performed by the senior author (KIA) to delineate the plane between tumor and periorbita. An oval-shaped dural opening was made to resect the dura involved by tumor, confirmed on histological analysis, followed by closure via dural allograft. The patient's right-sided visual field improved markedly after surgery. Metastatic renal cell carcinoma of the orbit should be resected while preserving and improving preoperative neurological and visual function. The orbitocranial pretemporal approach offers wide visualization to achieve surgical resection. The patient provided written consent and permission to publish her image.
Topics: Carcinoma, Renal Cell; Female; Humans; Kidney Neoplasms; Neurosurgical Procedures; Orbit; Sphenoid Bone
PubMed: 33517422
DOI: 10.1093/ons/opaa453 -
Indian Journal of Ophthalmology Sep 2021We describe an objective method to measure the volume of a dermis-fat graft (DFG) implant for socket reconstruction. We reviewed the charts of 10 patients undergoing...
We describe an objective method to measure the volume of a dermis-fat graft (DFG) implant for socket reconstruction. We reviewed the charts of 10 patients undergoing dermis fat grafting as a primary or secondary implant for anophthalmic socket reconstruction between January 2018 and December 2019. The amount of the DFG required to replace the volume of an appropriate spherical implant for the operated eye was predetermined. The volume of the DFG implant was measured by the water displacement method as per the Archimedes principle. Patient demographics, complications, and the outcome were analyzed regarding cosmesis and volume replacement. All patients were satisfied with the final cosmesis. Follow-up ranged from 6 to 18 months (mean 10.7 months). Thus, we concluded that the water displacement method is a simple and easy procedure to objectively determine the amount of the autologous DFG needed to replace the volume in an anophthalmic socket.
Topics: Anophthalmos; Dermis; Eye, Artificial; Humans; Orbit; Orbital Implants
PubMed: 34427258
DOI: 10.4103/ijo.IJO_130_21 -
Scientific Reports Oct 2023Thyroid eye disease (TED), an autoimmune inflammatory disorder affecting the orbit, exhibits a range of clinical manifestations. While the disease presentation can vary,...
Thyroid eye disease (TED), an autoimmune inflammatory disorder affecting the orbit, exhibits a range of clinical manifestations. While the disease presentation can vary, cases that adhere to a prototypical pattern typically commence with mild symptoms that subsequently escalate in severity before entering a phase of stabilization. Notably, the metabolic activity of cells implicated in the disease substantially deviates from that of healthy cells, with purine metabolism representing a critical facet of cellular material metabolism by supplying components essential for DNA and RNA synthesis. Nevertheless, the precise involvement of Purine Metabolism Genes (PMGs) in the defensive mechanism against TED remains largely unexplored. The present study employed a bioinformatics approach to identify and validate potential PMGs associated with TED. A curated set of 65 candidate PMGs was utilized to uncover novel PMGs through a combination of differential expression analysis and a PMG dataset. Furthermore, GSEA and GSVA were employed to explore the biological functions and pathways associated with the newly identified PMGs. Subsequently, the Lasso regression and SVM-RFE algorithms were applied to identify hub genes and assess the diagnostic efficacy of the top 10 PMGs in distinguishing TED. Additionally, the relationship between hub PMGs and clinical characteristics was investigated. Finally, the expression levels of the identified ten PMGs were validated using the GSE58331 and GSE105149 datasets. This study revealed ten PMGs related with TED. PRPS2, PFAS, ATIC, NT5C1A, POLR2E, POLR2F, POLR3B, PDE3A, ADSS, and NTPCR are among the PMGs. The biological function investigation revealed their participation in processes such as RNA splicing, purine-containing chemical metabolism, and purine nucleotide metabolism. Furthermore, the diagnostic performance of the 10 PMGs in differentiating TED was encouraging. This study was effective in identifying ten PMGs linked to TED. These findings provide light on potential new biomarkers for TED and open up possibilities for tracking disease development.
Topics: Humans; Graves Ophthalmopathy; Orbit; Autoimmune Diseases; Immunization; Computational Biology; Machine Learning
PubMed: 37884559
DOI: 10.1038/s41598-023-45048-9 -
Anatomical Record (Hoboken, N.J. : 2007) Nov 2019Orbit orientation in primates has been linked to adaptive factors related to activity pattern and size-related variation in structural influences on orbit position....
Orbit orientation in primates has been linked to adaptive factors related to activity pattern and size-related variation in structural influences on orbit position. Although differences in circumorbital form between anthropoids and strepsirrhines appear to be related to interspecific disparities in levels of orbital convergence and orbital frontation, there is considerable overlap in convergence between suborders. Unfortunately, putative links between convergence and frontation across primates, and consequent arguments about primate and anthropoid origins, are likely to be influenced by allometry, the size range of a respective sample, and adaptive influences on encephalization and activity patterns. Such a multifarious system is less amenable to interspecific treatment across higher-level clades. An ontogenetic perspective is one way to evaluate transformations from one character state to another, especially as they pertain to allometric effects on phenotypic variation. We characterized the ontogeny of orbital convergence and frontation in 13 anthropoid and strepsirrhine species. In each suborder, correlation and regression analyses were used to test hypotheses regarding the allometric bases of variation in orbital orientation. Growth trajectories were analyzed intra- and inter-specifically. Frontation decreased postnatally in all taxa due to the negative scaling of brain vs. skull size. Further, interspecific variation in relative levels of frontation was linked to corresponding ontogenetic transpositions in encephalization that differed within both suborders. In strepsirrhines, postnatal increases in convergence were largely due to the negative allometry of orbit vs. skull size. In contrast, convergence in anthropoids varied little during growth, being unrelated to ontogenetic variation in either relative orbit or interorbit size. Anat Rec, 302:2093-2104, 2019. © 2019 American Association for Anatomy.
Topics: Animals; Biological Evolution; Haplorhini; Orbit; Orientation; Phylogeny; Primates; Skull
PubMed: 31172691
DOI: 10.1002/ar.24193 -
Ophthalmic Plastic and Reconstructive... 2020To determine if there is a biologic rationale for using checkpoint inhibitor drugs targeting programmed cell death ligand 1 (PD-L1) and PD-L2 in the treatment of adenoid...
PURPOSE
To determine if there is a biologic rationale for using checkpoint inhibitor drugs targeting programmed cell death ligand 1 (PD-L1) and PD-L2 in the treatment of adenoid cystic carcinoma of the orbit.
METHODS
Twenty-three cases of adenoid cystic carcinoma involving the orbit (13 primary lacrimal gland, 5 secondarily extending into the orbit, and 5 unspecified) were examined histopathologically. Immunohistochemistry for PD-L1, PD-L2, and CD8 was performed. Charts were reviewed for clinical correlations.
RESULTS
Expression of PD-L1 and of PD-L2 was overall low in adenoid cystic carcinoma (mean expression 1.4 ± 0.9 of 5 for PD-L1, mean 0.83 ± 1.1 of 5 for PD-L2), and tumor-infiltrating CD8-positive T-lymphocytes were sparse (mean 1.1 ± 0.51 of 3). Only 13 of the 23 (57%) cases expressed PD-L1 as a combined positive score ≥1 of cells. No associations were found between expression levels of these markers and patient sex, tumor site of origin, Tumor, Node, Metastasis stage, or patient outcome. A significant association was observed between stromal PD-L1 expression and tumor histopathologic subtype (p = 0.05), and between tumor PD-L1 expression and prior exposure to radiation (p = 0.03).
CONCLUSIONS
Checkpoint inhibitor drugs may have limited impact in the treatment and clinical course of orbital adenoid cystic carcinoma based on the low frequency of CD8 infiltrate and low expression of PD-L1 and PD-L2. Pretreatment with radiation, however, may improve tumor response to checkpoint inhibitor drugs.
Topics: B7-H1 Antigen; Biomarkers, Tumor; CD8-Positive T-Lymphocytes; Carcinoma, Adenoid Cystic; Humans; Lymphocytes, Tumor-Infiltrating; Orbit; Programmed Cell Death 1 Ligand 2 Protein
PubMed: 31990894
DOI: 10.1097/IOP.0000000000001585 -
Medicine Jul 2022We performed a novel hydroxyapatite (HA) prosthesis implantation method in which an HA implant was implanted into the scleral shell with an autogenous scleral cap....
We performed a novel hydroxyapatite (HA) prosthesis implantation method in which an HA implant was implanted into the scleral shell with an autogenous scleral cap. Twenty-six patients who had undergone the novel HA prosthesis implantation method and 32 patients who had undergone traditional HA prosthesis implantation were retrospectively reviewed. The postoperative activity of the artificial eye was measured by the Hirschberg test combined with arc perimetry. The visual analog score (VAS) was used to evaluate 2-month postoperative pain and 2-month postoperative discomfort. HA implant vascularization was measured with enhanced magnetic resonance imaging (MRI) 2 and 6 months after the operation. The enhancement volume (VE) and the volume of the HA implant (VHA) were measured. All cases were followed up for 2 years. Measurement data were processed using SAS 6.12. There was a statistically significant difference (P = .016) between the percentages of excellent grade in the two groups. Two months after implantation, the median pain scores of the study and control groups were 2 and 2.5, respectively, and there was a statistically significant difference (W = 585.0, P = .004); there was a statistically significant difference (W = 535.5, P = .000) between the median discomfort scores of the study group (score = 1) and control group (score = 2); the mean VE/VHA values of the study and control groups were 0.3075 and 0.1535, respectively, and there was a statistically significant difference (t = -8.196, P = .000). Six months after implantation, the VE/VHA values of the study and control groups were 0.9686 and 0.5934, respectively, and there was a statistically significant difference (W = 549.0, P = .000). Within 2 years of postoperative follow-up, there were no serious complications in the study group. In the study group, in which the hydroxyapatite implant was implanted into a preserved scleral shell with unaltered muscles and covered with an autogenous scleral cap, postoperative activity and the fibrovascularization of the HA implant were significantly increased, and postoperative pain and discomfort were significantly reduced.
Topics: Biocompatible Materials; Cohort Studies; Durapatite; Eye, Artificial; Humans; Orbit; Pain, Postoperative; Prosthesis Implantation; Retrospective Studies; Sclera
PubMed: 35905211
DOI: 10.1097/MD.0000000000029519 -
Scientific Reports Dec 2022Although the clinical activity score (CAS) is a validated scoring system for identifying disease activity of thyroid-associated orbitopathy (TAO), it may produce...
Although the clinical activity score (CAS) is a validated scoring system for identifying disease activity of thyroid-associated orbitopathy (TAO), it may produce differing results depending on the evaluator, and an experienced ophthalmologist is required for accurate evaluation. In this study, we developed a machine learning (ML)-assisted system to mimic an expert's CAS assessment using digital facial images and evaluated its accuracy for predicting the CAS and diagnosing active TAO (CAS ≥ 3). An ML-assisted system was designed to assess five CAS components related to inflammatory signs (redness of the eyelids, redness of the conjunctiva, swelling of the eyelids, inflammation of the caruncle and/or plica, and conjunctival edema) in patients' facial images and to predict the CAS by considering two components of subjective symptoms (spontaneous retrobulbar pain and pain on gaze). To train and test the system, 3,060 cropped images from 1020 digital facial images of TAO patients were used. The reference CAS for each image was scored by three ophthalmologists, each with > 15 years of clinical experience. We repeated the experiments for 30 randomly split training and test sets at a ratio of 8:2. The sensitivity and specificity of the ML-assisted system for diagnosing active TAO were 72.7% and 83.2% in the test set constructed from the entire dataset. For the test set constructed from the dataset with consistent results for the three ophthalmologists, the sensitivity and specificity for diagnosing active TAO were 88.1% and 86.9%. In the test sets from the entire dataset and from the dataset with consistent results, 40.0% and 49.9% of the predicted CAS values were the same as the reference CAS, respectively. The system predicted the CAS within 1 point of the reference CAS in 84.6% and 89.0% of cases when tested using the entire dataset and in the dataset with consistent results, respectively. An ML-assisted system estimated the clinical activity of TAO and detect inflammatory active TAO with reasonable accuracy. The accuracy could be improved further by obtaining more data. This ML-assisted system can help evaluate the disease activity consistently as well as accurately and enable the early diagnosis and timely treatment of active TAO.
Topics: Humans; Graves Ophthalmopathy; Orbit; Exophthalmos; Sensitivity and Specificity
PubMed: 36543834
DOI: 10.1038/s41598-022-25887-8 -
Oral and Maxillofacial Surgery Jun 2023The purpose of this study is to execute an evidence-based review answering the following question (PICO): "Do patient-specific implants (PSI), manufactured or designed... (Meta-Analysis)
Meta-Analysis Review
The purpose of this study is to execute an evidence-based review answering the following question (PICO): "Do patient-specific implants (PSI), manufactured or designed using computer-assisted technology, improve outcomes (orbital volume change, enophthalmos, diplopia, and operative duration) compared to conventional methods in orbital reconstruction following traumatic orbital injury in the adult patient population?" We performed a systematic review and meta-analysis in accordance with PRISMA guidelines. Inclusion criteria included any comparative paper whereby computer-assisted technology was used in the prefabrication or design process of implants for use in post-traumatic orbital reconstruction. Paediatric patient populations were excluded. Eight databases were systematically searched for relevant studies. Risk of bias was assessed through the NOS and RoB2 tools. Random-effects models were used to identify differences in outcomes between groups where possible. Analysis was performed using R 4.0.0. Eleven of 4784 identified studies were included, comprising 628 adult patients, with 302 and 326 patients in the patient-specific and conventional groups, respectively. Weighted mean difference between unaffected and post-operative orbital volume was 0.32 ml (SD 0.75) and 0.95 ml (SD 1.03) for patient-specific and conventional groups, respectively. Significant improvement was identified in post-operative orbital volume reconstitution with the use of PSI, compared to conventional implants, in 3 of the 5 reporting studies. Equally, post-operative enophthalmos trended towards lower severity in the patient-specific group, with 11.2% of patients affected in the patient-specific group and 19.2% in the conventional group, and operative duration was significantly reduced with the use of PSI in 3 of the 6 reporting studies. Despite a tendency to favour PSI, no statistically significant differences in key outcomes were identified on meta-analysis. Although there is some encouraging data to support improved outcomes with the use of patient-specific orbital implants in post-traumatic reconstruction, there is, at present, no statistically significant evidence to objectively support their use over conventional implants based on the currently available comparative studies. Based on the results of this study, the choice of implant used should, thus, be left to the discretion of the surgeon.
Topics: Adult; Child; Humans; Enophthalmos; Orbit; Dental Implants; Orbital Fractures
PubMed: 35589881
DOI: 10.1007/s10006-022-01074-x