More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.
Child ; Epilepsy/genetics* ; Female ; Humans ; Intellectual Disability/genetics* ; Male ; Muscle Hypotonia/complications* ; Mutation ; Phenotype ; Seizures/genetics* ; Strabismus/complications*

PURPOSE: To evaluate the clinical outcomes of balanced deep lateral and medial orbital wall decompression and to estimate surgical effects using computed tomography (CT) images in Korean patients with thyroid-associated ophthalmopathy (TAO). METHODS: Retrospective chart review was conducted in TAO patients with exophthalmos who underwent balanced deep lateral and medial orbital wall decompression. Exophthalmos was measured preoperatively and postoperatively at 1 and 3 months. Postoperative complications were evaluated in all study periods. In addition, decompressed bone volume was estimated using CT images. Thereafter, decompression volume in each decompressed orbital wall was analyzed to evaluate the surgical effect and predictability. RESULTS: Twenty-four patients (48 orbits) with an average age of 34.08 ± 7.03 years were evaluated. The mean preoperative and postoperative exophthalmos at 1 and 3 months was 18.91 ± 1.43, 15.10 ± 1.53, and 14.91 ± 1.49 mm, respectively. Bony decompression volume was 0.80 ± 0.29 cm3 at the medial wall and 0.68 ± 0.23 cm3 at the deep lateral wall. Postoperative complications included strabismus (one patient, 2.08%), upper eyelid fold change (four patients, 8.33%), and dysesthesia (four patients, 8.33%). Postsurgical exophthalmos reduction was more highly correlated with the deep lateral wall than the medial wall. CONCLUSIONS: In TAO patients with exophthalmos, balanced deep lateral and medial orbital wall decompression is a good surgical method with a low-risk of complications. In addition, deep lateral wall decompression has higher surgical predictability than medial wall decompression, as seen with CT analysis.
Decompression* ; Exophthalmos ; Eyelids ; Graves Ophthalmopathy ; Humans ; Orbit* ; Paresthesia ; Postoperative Complications ; Retrospective Studies ; Strabismus ; Troleandomycin

BACKGROUND: Desflurane has lower solubility and shows a more rapid induction and recovery than sevoflurane, although it often induces increased cardiovascular response, emergence delirium, and respiratory complications. The change of anesthetic agent from sevoflurane to desflurane after induction may provide a smooth induction and rapid emergence. The aim of this study was to evaluate the effect of changing sevoflurane to desflurane after induction on the cardiovascular response, emergence delirium, and recovery characteristics during pediatric strabismus surgery. METHODS: For the study, 135 children scheduled for strabismus surgery were randomly divided into three groups: the S group (n = 45) and D group (n = 45) received sevoflurane or desflurane, respectively, for induction and maintenance, while the C group (n = 45) received sevoflurane for induction and desflurane for maintenance. Cardiovascular responses, pediatric anesthesia emergence delirium (PAED) scale scores, post-anesthesia care unit (PACU) length of stay, and the incidence of postoperative complications were compared between groups. RESULTS: The blood pressure of the D group was significantly different from that of the S and C groups (P < 0.05). The time to extubation and first crying were significantly longer in the S group (P < 0.001). There were no significant differences in PAED score, PACU length of stay, and the incidence of postoperative complications, except for cough, among the three groups. CONCLUSIONS: The change of desflurane after sevoflurane induction in pediatric strabismus surgery provided rapid emergence compared with sevoflurane, and attenuated cardiovascular responses and lesser respiratory complications as compared to desflurane. The emergence delirium was not influenced by either inhalational anesthetic.
Anesthesia* ; Blood Pressure ; Child ; Cough ; Crying ; Delirium* ; Humans ; Incidence ; Length of Stay ; Postoperative Complications ; Solubility ; Strabismus*

Traumatic rupture of the superior oblique muscle is rare. We report a case of a 54-year-old man injured by the metal hook of a hanger, resulting in a rupture of the superior oblique muscle tendon. He complained of torsional diplopia when in the primary position. The distal margin of the superior oblique muscle was reattached to sclera 5 and 9 mm apart from the medial insertion of the superior rectus muscle. One week after the operation, torsional diplopia disappeared. However, a 4-prism diopter ipsilateral hypertropia was observed. Three months later, hypertropia gradually increased to 20 prism dioptors and the second operation was done to correct vertical diplopia.
Diplopia/etiology/physiopathology/surgery ; Eye Injuries/complications/*diagnosis/surgery ; *Eye Movements ; Humans ; Male ; Middle Aged ; Oculomotor Muscles/*injuries/physiopathology/surgery ; Ophthalmologic Surgical Procedures/*methods ; Strabismus/etiology/physiopathology/surgery ; Tendon Injuries/complications/*diagnosis/surgery

A 65-year-old man who had been experiencing diplopia in front and down gaze for 15 days visited our hospital. Hypertropia was noted in the patient's left eye, and limitation of depression was found in the adduction, primary gaze, and abduction. Brain magnetic resonance imaging showed no remarkable findings. Two weeks after the first visit, the patient complained of ptosis in the left eye. An ice test was performed and the ptosis was resolved after the test. Then, anti-acetylcholine receptor binding antibody levels were checked and found to be slightly elevated. We prescribed methylprednisolone per os 24 mg for 2 weeks, and his symptoms improved after the 2-week treatment. Five weeks after his first visit, the patient showed an ortho result in the alternate prism cover test and normal ocular movements. This may be the first case in which ocular myasthenia gravis presented as double depressor palsy, and in such cases, the possibility of ocular myasthenia gravis should be considered to rule out double depressor palsy.
Aged ; Diagnosis, Differential ; Diplopia/*diagnosis/*etiology ; Humans ; Male ; Myasthenia Gravis/*complications/*diagnosis ; Ocular Motility Disorders/diagnosis/etiology ; Strabismus/diagnosis/etiology

OBJECTIVE: To evaluate the oblique angle, diplopia and stereoacuity before and after rectus recession-suspension on posterior sclera surgery in patients with restrictive strabismus caused by thyroid associated ophthalmopathy (TAO). METHODS: Data from 18 patients (19 eyes) with restrictive strabismus caused by TAO, who underwent rectus recession-suspension on posterior sclera surgery from July 2010 to June 2013 in Xiangya Hospital, Central South University, were analyzed retrospectively. Eight patients (8 eyes) or 5 patients (5 eyes) with hypotropia were operated with inferior rectus recession or superior rectus recession. Two patients (2 eyes) with esohypertropia or 3 patients (4 eyes) with esotropia were operated with inferior rectus recession plus medial rectus recession or medial rectus recession. Two patients (1 hypotropia, 1 esotropia) underwent orbital decompression surgery before strabismus surgery. All patients were performed rectus recession-suspension on posterior sclera surgery, and the oblique angle, diplopia view and stereopsis test were examined before and after the operation. RESULTS: All patients were followed up for more than 6 months. The preoperative prism were 20(Δ)- 80(Δ) and postoperative prism were 2(Δ)-10(Δ). There was diplopia on the primary position before surgery in 16 patients. After surgery, the diplopia in 14 patients disappeared on the primary and 15° down gaze, and 2 patients had not diplopia on the primary position but residual diplopia on inferior field. Two patients had stereopsis before surgery, and the numbers of patients raised to 14 after surgery. Compared with pre-operation, changes of the above measured indexs in post-operation were significant difference (all P<0.05). CONCLUSION The rectus recession-suspension on posterior sclera surgery is effective to improve oblique angle and diplopia in restrictive strabismus caused by TAO, which can improve patient's living quality.
Decompression, Surgical ; Diplopia ; Graves Ophthalmopathy ; complications ; Humans ; Oculomotor Muscles ; surgery ; Ophthalmologic Surgical Procedures ; methods ; Retrospective Studies ; Sclera ; surgery ; Strabismus ; surgery ; Treatment Outcome ; Visual Acuity

PURPOSE: To evaluate the correlation between hypertropia and excyclotorsion in acquired superior oblique palsy (SOP). METHODS: Thirty-one patients with acquired unilateral SOP were recruited for this study. The torsional angle of each patient was assessed via one objective method (fundus photography) and two subjective methods (double Maddox rod test and major amblyoscope). The patient population was divided into two groups (concordance group, n = 19 and discordance group, n = 12) according to the correspondence between the hypertropic eye (paralytic eye) and the more extorted eye (non-fixating eye), which was evaluated by fundus photography. RESULTS: The mean value of objective torsion was 5.09degrees +/- 3.84degrees. The subjective excyclotorsion degrees were 5.18degrees +/- 4.11degrees and 3.65degrees +/- 1.93degrees as measured by double Maddox rod test and major amblyoscope, respectively. Hypertropia and the excyclotorsional angle did not differ significantly between the groups (p = 0.257). Although no correlation was found in the discordance group, the concordance group showed a significant and positive correlation between hypertropia and excyclotorsion (p = 0.011). CONCLUSIONS: Torsional deviation was not related to hypertropia. However, in the concordance patients in whom the hypertropic eye showed excyclotorsion, a significant positive correlation was found between hypertropia and excyclotorsion.
Adolescent ; Adult ; Aged ; Child ; Diagnostic Techniques, Ophthalmological ; Eye Movements ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Oculomotor Muscles/*physiopathology ; Ophthalmologic Surgical Procedures/*methods ; Ophthalmoplegia/*etiology/physiopathology/surgery ; Retrospective Studies ; Strabismus/*etiology/physiopathology/surgery ; Treatment Outcome ; Trochlear Nerve Diseases/*complications/physiopathology/surgery ; Young Adult

PURPOSE: To evaluate factors associated with the direction of horizontal deviation in the sensory strabismus of patients with unilateral organic amblyopia. METHODS: The medical charts of 53 patients who had been diagnosed with sensory strabismus between 2000 and 2009 were reviewed retrospectively. The underlying ocular disease, time of onset and the duration of vision impairment, refractive error and axial length of the fixing eye, and the direction and angle of deviation were analyzed to determine the distribution of underlying diseases and any factors relevant to determining the direction of the horizontal deviation. RESULTS: Congenital cataracts were the most common underlying disease, found in 33 patients, followed by acquired cataracts, optic nerve disorders, retinal detachment, glaucoma and lens subluxation. Among the 50 patients with horizontal strabismus, 11 had esotropia and 39 had exotropia. The incidence of esotropia was significantly higher when the fixing eye had hyperopia or emmetropia, than when the eye was myopic. Age of onset of vision deterioration and at diagnosis of sensory strabismus, and the axial length of the fixing eye had no relationship to the direction of horizontal deviation. In addition, the duration of visual impairment had no significant relationship with the direction or extent of horizontal deviation. CONCLUSIONS: The most common cause of sensory strabismus was congenital cataracts and the most frequent type of strabismus was exotropia. With respect to the direction of horizontal strabismus, esotropia occurred significantly more often when the refractive error of the fixing eye was hyperopia or emmetropia than when the fixing eye was myopic.
Adolescent ; Adult ; Amblyopia/*complications/physiopathology ; Cataract/complications/congenital/physiopathology ; Child ; Child, Preschool ; Eye Movements/*physiology ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Oculomotor Muscles/*physiopathology ; Refractive Errors ; Retrospective Studies ; Risk Factors ; Strabismus/etiology/*physiopathology ; Visual Acuity ; Young Adult

PURPOSE: The aims of this study were to examine the distribution of refractive errors and clinical characteristics of strabismus in Korean patients with Down's syndrome. METHODS: A total of 41 Korean patients with Down's syndrome were screened for strabismus and refractive errors in 2009. RESULTS: A total of 41 patients with an average age of 11.9 years (range, 2 to 36 years) were screened. Eighteen patients (43.9%) had strabismus. Ten (23.4%) of 18 patients exhibited esotropia and the others had intermittent exotropia. The most frequently detected type of esotropia was acquired non-accommodative esotropia, and that of exotropia was the basic type. Fifteen patients (36.6%) had hypermetropia and 20 (48.8%) had myopia. The patients with esotropia had refractive errors of +4.89 diopters (D, +/-3.73) and the patients with exotropia had refractive errors of -0.31 D (+/-1.78). Six of ten patients with esotropia had an accommodation weakness. Twenty one patients (63.4%) had astigmatism. Eleven (28.6%) of 21 patients had anisometropia and six (14.6%) of those had clinically significant anisometropia. CONCLUSIONS: In Korean patients with Down's syndrome, esotropia was more common than exotropia and hypermetropia more common than myopia. Especially, Down's syndrome patients with esotropia generally exhibit clinically significant hyperopic errors (>+3.00 D) and evidence of under-accommodation. Thus, hypermetropia and accommodation weakness could be possible factors in esotropia when it occurs in Down's syndrome patients. Based on the results of this study, eye examinations of Down's syndrome patients should routinely include a measure of accommodation at near distances, and bifocals should be considered for those with evidence of under-accommodation.
Adolescent ; Adult ; Child ; Child, Preschool ; Down Syndrome/*complications/epidemiology ; Female ; Humans ; Incidence ; Male ; Prevalence ; Refractive Errors/complications/*epidemiology ; Republic of Korea/epidemiology ; Retrospective Studies ; Strabismus/complications/*epidemiology ; *Vision Screening ; Young Adult

PURPOSE: To identify the long term clinical course of amblyopia and strabismus that developed secondary to a monocular corneal opacity following suspected epidemic keratoconjunctivitis (EKC) in infancy. METHODS: This was a retrospective study analyzing the medical records of seven patients, treated in our clinic, who were followed for more than five years. RESULTS: Four patients in our clinic underwent a corneal ulcer treatment following suspected EKC. Each developed a monocular corneal opacity. Three patients with a chief complaint of corneal opacity were transferred to our clinic from other clinics. These patients had documented histories of treatment for EKC in infancy. All patients were treated with early occlusion therapy, but amblyopia persisted in four patients. Furthermore, all patients had strabismus and showed a significant reduction of stereoscopic vision. CONCLUSIONS: Although infants with EKC are not always cooperative, slit lamp examination should be performed as early as possible, and appropriate medical treatment should be performed, thus reducing the development of corneal opacity. Careful follow up should be regularly performed, and the occurrence of amblyopia or strabismus should be verified at an early stage using visual acuity or ocular alignment examination. Ophthalmologic treatments, including active occlusion therapy, should also be pursued.
Adenoviridae Infections/*complications/diagnosis/epidemiology ; Amblyopia/*etiology/pathology/physiopathology ; Child ; Child, Preschool ; Corneal Opacity/*complications/pathology ; Disease Progression ; *Epidemics ; Eye Infections, Viral/*complications/diagnosis/epidemiology ; Female ; Follow-Up Studies ; Humans ; Infant ; Keratoconjunctivitis/*complications/diagnosis/epidemiology ; Male ; Prognosis ; Refraction, Ocular ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Factors ; Strabismus/*etiology/pathology/physiopathology ; Vision, Binocular ; Visual Acuity