Two cases of Duane retraction syndrome with abnormal orbital structures.

Duane retraction syndrome (DRS) is a rare congenital nonprogressive restrictive strabismus. The absence/hypoplasia of the abducens nerve and the aberrant innervation of the lateral rectus muscle by the oculomotor nerve have been hypothesized as causes of DRS, although the phenomenon of globe retraction can also occur in the setting of mechanical factors, such as congenital abnormal orbital structures or orbital trauma. We present the cases of 2 DRS patients with absent abducens nerve and abnormal muscular bands connecting the superior rectus and inferior rectus muscles on the temporal side of the optic nerve.

Clinical features and visual prognosis of very late-onset neuromyelitis optica spectrum disorder-related optic neuritis.

Background: Very late-onset neuromyelitis optica spectrum disorder-related optic neuritis is limited to a few case reports.

Objective: To investigate the clinical features and visual prognosis of very late-onset neuromyelitis optica spectrum disorder-related optic neuritis.

Methods: This study evaluated 22 patients with first-onset optic neuritis and fulfilled the 2015 diagnosis criteria for neuromyelitis optica spectrum disorders.

Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.

Duane retraction syndrome (DRS) is a rare congenital eye movement disorder causing by the dysplasia of abducens nerve, and has highly variable phenotype. MRI can reveal the endophenotype of DRS. Most DRS cases are sporadical and isolated, while some are familial or accompanied by other ocular disorders and systemic congenital abnormalities.

Difference of anterior and posterior orbital development in patients with congenital microphthalmia: a retrospective cohort study from China.

Aim: To evaluate volume differences between anterior and posterior orbit and demographic characteristics of Chinese patients with congenital microphthalmia.

Methods: A retrospective cohort study, involving 169 unilateral congenital microphthalmia patients aged between 1 and 57 years old was conducted. Three-dimensional images of the orbit were generated from past CT scans, and digital orbital volume comprehensive measurement was done.

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

Background: 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.

Results: A total of 122 CCDDs patients from 96 families were enrolled.

Optic nerve lesion length is a biomarker of visual disability in the pre-chronic phase of Leber's hereditary optic neuropathy.

Objective: The current research aims to investigate relationships between the optic nerve (ON) lesion length with visual function in the pre-chronic phase ( illness duration < 12 months) of LHON.

Methods: Orbital MRI was retrospectively analyzed for 45 patients with LHON in the pre-chronic phase. ON lesion length was measured by 2 trained independent readers and it was recorded as multiplication of the number of abnormal MRI slices and slice thickness on T2-STIR sequence in the coronal plane.

Different Characteristics of Orbital Soft Tissue Expansion in Graves Orbitopathy: Extraocular Muscle Expansion is Correlated to Disease Activity While Fat Tissue Volume With Duration.

This study aimed to describe the correlation between some clinical features and orbital soft tissue volume in Graves orbitopathy (GO). The authors collected computed tomography scans from 56 untreated GO patients and measured fat volume (FV), intraorbital and extraorbital FV (IFV, EFV), bony cavity volume (BV), and extraocular muscle volume (MV) of the 112 orbits by using Mimics software. The ratio of soft tissue volume and BV were used to eliminate the individual variations.

Clinical and Cerebrospinal Fluid Characteristics in 55 Cases of Tolosa-Hunt Syndrome: A Retrospective Analytical Study.

Background: Several case series of patients with Tolosa-Hunt syndrome have been described in the literature; however, few studies have focused on the cerebrospinal fluid (CSF) characteristics. This study aimed to analyse the CSF characteristics of patients with Tolosa-Hunt syndrome.

Methods: Fifty-five patients who fulfilled the 3rd Edition of the International Classification of Headache Disorders diagnostic criteria for Tolosa-Hunt syndrome were included in this study.

Correlation between extent of lacrimal gland prolapse and clinical features of thyroid-associated ophthalmopathy: a retrospective observational study.

Background: Studies on the factors related to lacrimal gland prolapse (LGP) in patients with thyroid-associated ophthalmopathy (TAO) are limited. This study aimed to assess the factors associated with LGP on magnetic resonance imaging (MRI) and its relation to TAO activity .

Methods: Thirty-six patients (72 orbits) with inactive TAO (43 orbits, Clinical Activity Score [CAS] < 3) or active TAO (29 orbits, CAS ≥3) were investigated retrospectively.

Orbital Volume and Axial Length Development in Individuals Ages 12 to 60 Years With Congenital Microphthalmia: A Retrospective Cohort Study.

Objective: To analyze the stimulating effect of axial length development on orbital volume development in patients (ages 12-60 years) with congenital microphthalmia.

Methods: This retrospective cohort study included 43 patients (86 eyes) with congenital microphthalmia. Three-dimensional images of the orbit were generated from past computed tomography scans, and digital orbital volume and axial length measurements were taken.

Diabetic Oculomotor Nerve Palsy Displaying Enhancement of the Oculomotor Nerve in the Orbit and Cavernous Sinus on MRI.

Introduction: Imaging data were scarce on diabetic oculomotor nerve palsy (ONP). Our study explored the MRI features and their clinical implications for diabetic ONP.

Methods: Fifty-nine patients with a clinical diagnosis of diabetic ONP were recruited from our department between January 2015 and December 2019.

Primary optic neuropathy in Behçet's syndrome.

Background: Primary optic neuropathy in Behçet's syndrome (PONBS) is limited to a few case reports.

Objective: To investigate the clinical features, magnetic resonance imaging (MRI) changes, and visual prognosis of PONBS.

Methods: Sixty-one patients who presented with first onset of optic neuritis and fulfilled the International Criteria for Behçet's Disease (ICBD) were evaluated.

[Measurement of orbital development in children from birth to 6 years of age].

Objective: An evaluation of orbital development in children from birth to 6 years of age was conducted in order to provide normal reference values for clinical use.

Methods: Retrospective cohort study. By combining multi-section helical computerized tomography (CT) imaging with a computer-aided design system (BrainLAB, Munich, Germany; iPlan Cranial Software, version 2.

Lesion Activity on Brain MRI in a Chinese Population with Unilateral Optic Neuritis.

Longitudinal studies have shown that brain white matter lesions are strong predictors of the conversion of unilateral optic neuritis to multiple sclerosis (MS) in Caucasian populations. Consequently brain MRI criteria have been developed to improve the prediction of the development of clinically definite multiple sclerosis (CDMS). In Asian populations, optic neuritis may be the first sign of classical or optic-spinal MS.

[Brown syndrome: clinical and radiological correlation].

Objective: Brown syndrome is characterized by limitation of elevation in adduction, with complex mechanisms involving muscle, tendon, and trochlea. Here, we investigated mechanisms of Brown syndrome by magnetic resonance (MR) imaging.

Methods: It was a retrospective case series study.

Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

Purpose: To identify the causative mutation with its possible origin in a Chinese family with congenital fibrosis of extraocular muscles type 1 (CFEOM1) and to characterize the ocular phenotypes and lesions in the corresponding intracranial nerves.

Methods: Three affected siblings and their asymptomatic parents underwent comprehensive ophthalmic examinations and neuropathologic analysis involving magnetic resonance imaging (MRI). KIF21A, PHOX2A, and TUBB3 genes were sequenced on the leukocyte-derived DNA to detect variants.

Digital evaluation of orbital development in chinese children with congenital microphthalmia.

Purpose: To evaluate the asymmetry of bilateral orbital development in Chinese children with congenital microphthalmia and to provide a criterion for tailoring treatment timing and therapy.

Design: Retrospective cohort study.

Methods: By combining multisection helical computerized tomography imaging with a computer-aided design system, we measured 38 children between 0 and 6 years of age with congenital microphthalmia and 70 normal children of the same age group.

[Vertical retraction syndrome caused by anomalous orbital structures].

Objective: To described the clinical feature and MRI imaging of six children with vertical retraction syndrome.

Methods: Six children with unilateral vertical retraction syndrome between 15 months and 8 years of age, mean age was (5.01 ± 1.

Upper airway fat tissue distribution in subjects with obstructive sleep apnea and its effect on retropalatal mechanical loads.

Objective: To validate the hypothesis that fat tissue accumulation adjacent to the upper airway contributes to a predisposition to obstructive sleep apnea (OSA), irrespective of body mass index (BMI), as well as investigate the effect of the volume of fat tissue on pharyngeal mechanical loads.

Methods: Fourteen subjects and 14 controls were enrolled in this study. Pharyngeal anatomy (the fat tissue volume in the retropalatal region and retroglossal region) were evaluated using magnetic resonance imaging.

Diagnosis and surgical treatment of unilateral restrictive hypotropia and esotropia.

Purpose: To describe the clinical features, radiological findings, and surgical treatment of patients with congenital unilateral restrictive hypotropia and esotropia.

Methods: Retrospective analysis of patients presenting with unilateral restrictive hypotropia and esotropia. In all patients, magnetic resonance imaging (MRI) or computed tomography (CT) of the brain, brainstem, and orbits was obtained before surgery.

[Correlation between upper airway soft tissue 3-D measurement and the severity of obstructive sleep apnea hypopnea syndrome].

Objective: To investigate the correlation between upper airway CT measurement value and severity of patients with obstructive sleep apnea hypopnea syndrome (OSAHS).

Methods: The upper airway of 82 patients with OSAHS were scanned by CT during normal respiration. The 3-D CT measurement were made in lateral and anterior-posterior diameters, cross-section areas and volumes of retropalatal and retroglossal region.

[Theoretic explanation about visual disorder induced by fibrous dysplasia of skull: pressure disequilibrium between lamina cribrosa].

Objective: To investigate the causes for changes in optic nerve head and visual impairment caused by fibrous dysplasia (FD) of optic canal stenosis.

Methods: A total of 12 FD patients, diagnosed by CT, received the fundus and optical coherence tomography (OCT). Those with FD involving optic canal underwent decompression.