Horizontal Gaze Palsy, Scoliosis, and Split Pons Sign in a 6-Year-Old Girl.

ABSTRACT: A 6-year-old girl presented with complaints of absent horizontal eye movements since birth. There was also associated progressive scoliosis for past 1 year. Neuroimaging revealed split pons sign, butterfly-shaped medulla, and prominent inferior olivary nuclei. The presence of congenital horizontal gaze palsy, childhood onset progressive scoliosis, and abnormal neuroimaging findings confirmed the diagnosis of horizontal gaze palsy with progressive scoliosis. This case highlights the importance of neuroimaging in a child presenting with horizontal gaze palsy and scoliosis that helped for starting early rehabilitation of the child, prevention of permanent vision loss, and parental counseling for future pregnancies.

Idiopathic Unilateral Enlargement of the Extraocular Muscles in an Infant.

A 6-month-old boy presented with a unilateral motility deficit of the right eye in all fields of gaze. Neuroimaging revealed unilateral enlargement of the medial, lateral, and inferior rectus muscles with sparing of the tendons. An evaluation for thyroid eye disease, idiopathic orbital inflammation, myositis, inflammatory and neoplastic infiltration of the muscle, vascular anomalies, and metastatic neuroblastoma was unrevealing. Biopsy of the muscle revealed normal architecture with an absence of inflammation, infiltration, or fibrosis. A review of the literature reveals the exceptionally rare nature of this finding. While the authors cannot rule out an atypical case of congenital euthyroid eye disease, this constellation of findings is not consistent with thyroid eye disease and may represent previously described cases of idiopathic enlargement of the extraocular muscles.

Postoperative outcomes for unilateral congenital trochlear nerve palsy: A retrospective cohort study.

PURPOSE: Congenital trochlear nerve palsy is the most common cause of vertical strabismus. The goal of this study was to investigate surgical outcomes after superior oblique tendon plication with or without inferior oblique recession in children and adults with unilateral congenital trochlear nerve palsy. METHODS: Data and outcomes were collected in patients with a diagnosis of unilateral congenital superior oblique palsy during a retrospective single-center study conducted at the University Hospital of Tours. A reproducible, standard ophthalmological and oculomotor examination was performed pre- and postoperatively at 1 year, including presence or absence of diplopia, vertical and horizontal deviations, and compensatory head posture. Surgical success, defined as an endpoint including absence of diplopia in primary position, absence of head tilt, and vertical deviation at distance fixation<5 prism diopters (PD), was analyzed. RESULTS: A total of fifty-seven patients (median [IQR] age of 11 years [5-42]) were analyzed. Patients experienced a significant reduction in vertical distance and near deviations (p<0.001), compensatory head tilt (p < 0.001), and diplopia after surgery (p < 0.001). Surgical success was higher in adults (17/24, 70.8%) than in children (15/33, 45.5%), although this did not reach statistical significance (p=0.0657). CONCLUSION: This study suggests that plication of the superior oblique muscle tendon, with or without recession of the inferior oblique muscle, can be effective in treating unilateral congenital trochlear nerve palsy. Further studies are necessary to compare surgical procedures and investigate their efficacy in adults compared to children in the short and long term.

Congenital Fibrosis of Extraocular Muscles: A Systematic Review and Meta-Analysis.

PURPOSE: To quantify typical disease characteristics for patients with congenital fibrosis of the extraocular muscles (CFEOM) including pre-and post-surgical ocular alignment and head positioning as well as average improvement with surgical intervention. PATIENTS AND METHODS: This investigation is a systematic review and meta-analysis. All studies detailing surgical intervention in cohorts of individuals with CFEOM were included. Ocular alignment and head positioning before and after surgery was recorded. Meta-analyses were performed to quantify these findings along with other patient characteristics across all included studies. RESULTS: The estimated average improvement in vertical alignment for patients with unilateral and bilateral CFEOM was 34.8 pd (prism diopters) and 21.27 pd, respectively. For horizontal alignment, patients with unilateral and bilateral CFEOM improved an average of 25.39 pd and 10.99 pd after surgery, respectively. There was no significant difference between the two most common surgeries used to address hypotropia and blepharoptosis in this patient population. The estimated proportion of patients with post-surgical head alignment within 5-9° was 60.64% and was 28.25% for patients with<5° of alignment. CONCLUSION: This study was able to illuminate many characteristic features of patients with CFEOM. Surgical intervention for the ocular alignment and head positioning of these patients demonstrates promising utility.

Vertical strabismus cases and their surgical outcome in Yazd, Islamic Republic of Iran.

Early diagnosis and management of strabismus is needed to avoid complications such as amblyopia. In this retrospective cohort study we reviewed the profile and surgical outcome of vertical strabismus patients attending a clinic in Yazd city in the Islamic Republic of Iran. From the medical files of 265 patients, 19.2% were found to have pure vertical deviation and 80.8% had combined horizontal and vertical strabismus. Congenital causes were recorded for 83.0% of cases and 24.9% had a family history of strabismus. Hypertropia (91.7%) was more common than hypotropia (8.3%). There was a statistically significant relationship between age at onset and vertical strabismus. Female patients had a higher rate of congenital vertical strabismus than did male patients. There was no significant association between surgery outcomes and sex or age of onset of strabismus. Early diagnosis and management in affected families and screening ofpatientswith strabismus family history is needed.

[Surgery for strabismus sursoadductorius (congenital superior oblique palsy) in childhood]. / Behandlung des Strabismus sursoadductorius (congenital superior oblique palsy) im Kindesalter.

PURPOSE: The aim of this study was to evaluate the effect of inferior oblique muscle recession (IOR) in children with pure unilateral strabismus sursoadductorius (so-called congenital superior oblique palsy, CSOP) operated before age 11 years. PATIENTS AND METHODS: A retrospective study of IOR in children with unilateral CSOP and surgery before age 11 years was undertaken. In most cases, recession and anteroposition of the anterior part of the inferior oblique tendon next to the lateral edge of the inferior rectus muscle was performed without fixation of the posterior part of the tendon. Main outcome measures were change in abnormal head tilt, change in vertical deviation, both in straight and contralateral side gaze, and evaluation of squint angles. RESULTS: Between 1997 and 2007, 36 consecutive children (aged 2 -10 years; 27 boys, 9 girls) received IOR for unilateral CSOP. The dose of IOR ranged between 6 and 12 mm. Vertical deviation in straight and contralateral gaze was reduced from median 5° (range 0 - 11°) and 12° (3 - 20°) to 0° (-2 - 8°) and 1° (-5 - 13°), respectively. Abnormal head tilt towards the contralateral shoulder was reduced from median 10° (0 - 20°) to 0° (-2,5 - 10°). Three children (8 %) received further extraocular muscle surgery within 2 years, one because of persistent hyperdeviation, and two because of consecutive hypodeviation of the operated eye. CONCLUSIONS: The results indicate that IOR with fixation of only the anterior part of the inferior oblique to the sclera is an effective treatment for strabismus sursoadductorius/CSOP in children. Undercorrection into a residual, well compensated stage is a satisfying result. Both overcorrection and elevation deficiency were rare.

A Rare Case of Congenitally Acquired Ocular Toxocariasis in A Five-Week-Old Infant.

PURPOSE: To report a case of strabismus in a five-week-old infant, likely secondary to a rare occurrence of congenitally acquired ocular toxocariasis. METHODS: Retrospective case report. RESULTS: A five-week-old male infant with left exotropia was referred to pediatric ophthalmology and to a vitreoretinal specialist. Fundoscopic examination revealed a granuloma with associated retinal folds and tractional retinal detachment typical for ocular toxocariasis. Serology revealed positivity for Toxocara antibodies, consistent with the clinical diagnosis of ocular toxocariasis. CONCLUSION: Ocular toxocariasis is typically thought to be secondary to acquired Toxocara infection secondary to fecal-oral transmission. In this case of early-onset strabismus secondary to ocular toxocariasis, it is hypothesized that this is a presentation of congenitally acquired toxocariasis.

Pregnancies after chemotherapy of trophoblastic neoplasms.

We have analyzed 88 pregnancies in 50 women who had previously been treated for gestational trophoblastic neoplasms with chemotherapeutic agents. No increase in fetal wastage, congenital abnormalities or complicated pregnancies was noted, suggesting that these drugs do not damage human oocytes in the doses and time periods used. The possibility that recessive mutations have been induced but were undetected cannot be evaluated definitively at present.

Surgical treatment in patients with double elevator palsy.

PURPOSE: To evaluate the effectiveness of surgical treatment performed in patients with double elevator palsy (DEP). METHODS: Patients diagnosed with congenital DEP between April 2003 and March 2007 were included in the study. The cases with positive traction test had inferior rectus (IR) recession followed by full tendon width muscle transposition Knapp surgery or partial tendon width transposition operation, while those without positive traction test underwent transposition procedure alone. Transposition surgery was combined with recession and resection of horizontal rectus muscles in patients with exotropia according to the amount of horizontal deviation. Eyelid surgery was applied in patients with ptosis following strabismus surgery. RESULTS: The average age of 13 patients was 14+/-32.5 years (range, 3-60 years). Five patients (38%) were female and 8 patients (62%) were male. The mean preoperative hypotropia was decreased from 29.2+/-3.5 prism diopters (PD) (range, 16-45 PD) to 2.6+/-2.8 PD (range, 0-6 PD) postoperatively. The median amount of horizontal deviation in patients with exotropia (n=4) was 30 PD (range, 25-45 PD) preoperatively; it was reduced to 2 PD (range, 0-8 PD) postoperatively. Mean follow-up period was 14.1+/-2.8 months (range, 6-31 months). Five patients (38%) underwent eyelid surgery, and all achieved cosmetically satisfactory results. CONCLUSIONS: Transposition surgery alone or combined with IR recession is an effective procedure in treatment of double elevator palsy. In patients with moderate horizontal deviations, recession and resection of horizontal rectus muscles combined with transposition provide correction of the horizontal deviation at the same time.

Congenital Ocular Neuromyotonia with Partial Third Nerve Palsy.

PURPOSE: We report the first case of congenital ocular neuromyotonia (ONM) and the results of strabismus surgery for this patient's co-existing cranial nerve (CN) III palsy. PATIENTS AND METHOD: The patient presented at 18 months with strabismus that had reportedly been present since the time of birth. On exam, she had persistent exotropia (RXT) and hypertropia (RHT) with episodes of esotropia in the right eye that could be evoked by sustained left gaze. A diagnosis of ONM with partial CN III palsy was made. T1-weighted, T2-weighted, and fluid-attenuated inversion recovery magnetic resonance imaging failed to reveal intracranial pathology. RESULTS: Gaze induced intermittent esotropia resolved with carbamazepine. Surgery was performed to improve the patient's RXT and RHT. Post-operatively, the patient's RXT had improved from 12 to 15 prism diopters (∆) at near and 20∆ at a distance to 10∆ RXT at near with no horizontal deviation at distance. Her deviation has remained stable for 13 years, as has her neurological exam and good state of health. CONCLUSION: This case demonstrates that ONM may present congenitally and adds to the body of knowledge regarding surgical outcomes on concurrent CN palsies in these patients.

Clinical evidence supporting the use of donor sclera as spacer material in complicated cases of strabismus surgery - retrospective evaluation of surgical results in 117 patients with thyroid-associated ophthalmopathy or congenital strabismus.

PURPOSE: To examine the outcome of the use of donor sclera as spacer material in complicated cases of strabismus surgery. METHODS: A retrospective cohort study on patients with complicated thyroid-associated ophthalmopathy (TAO) (n = 42) or congenital strabismus (n = 75). Patients underwent strabismus surgery during 1994-2014. The surgical results were evaluated in terms of the reduction in the angle of deviation, the need for re-operation, complications and patient satisfaction. RESULTS: The majority of the TAO patients underwent surgery for vertical strabismus (n = 25). The vertical angle of deviation in the primary position was significantly reduced from a median of 23 prism dioptres (PD) to 2 PD (n = 35, p < 0.001). The horizontal angle of deviation in primary position for TAO patients with esotropia was significantly reduced, from a median of 35 PD to 2 PD (n = 17, p < 0.001). The majority of the congenital cases had horizontal strabismus (esotropia = 29, exotropia = 27). The angle of deviation in esotropia was reduced from a median of 29 PD to 8 PD (n = 36, p < 0.001) and in exotropia from 30 PD to 10 PD (n = 34, p < 0.001). Most of the patients were satisfied with the outcome of surgery, and only 12% required re-operation within 2 years. CONCLUSION: This is the first clinical study on the use of donor sclera as spacer material in complicated cases of strabismus surgery. The surgical results were good in terms of the reduction in the angle of deviation, the need for re-operation, complications and patient satisfaction, supporting the use of donor sclera for strabismus surgery.

Surgical outcomes after unilateral horizontal rectus surgery in children with infantile esotropia for the correction of A or V pattern.

PURPOSE: The management of A or V pattern deviation associated with esotropia can be challenging since the horizontal deviation changes with position of gaze. This study aimed to assess the effect of unilateral horizontal rectus surgery for the correction of horizontal deviation associated with A or V pattern in children with non-comitant infantile esotropia. METHODS: Twenty-seven children with infantile esotropia and A-V pattern, more than 10 and 15 prism diopters respectively, were included in this retrospective observational single-center study. Horizontal rectus surgery was performed on the most deviated eye under general anesthesia. The patients were divided into two groups: A pattern and V pattern. The outcome measures were change in the amount of pattern and rate of regression after surgery. The amount of pattern was characterized by the difference in esodeviation between upgaze and downgaze. RESULTS: Horizontal deviation at distance and near fixation decreased significantly (P<0.0001). Vertical gaze esotropia disparity decreased significantly (P=0.01 and P=0.0002 for A and V patterns respectively). A pattern esotropia was reported in only 2 (7%) cases after surgery compared to 9 (33%) before surgery. The number of subjects with V pattern esotropia decreased from 18 (67%) to 3 (11%) after surgery. CONCLUSIONS: The mechanisms involved in the pathophysiology of A and V patterns may not always be related to oblique muscle dysfunction. These findings suggest that unilateral horizontal rectus surgery may be an effective procedure to correct both horizontal deviation and A-V pattern in non-comitant infantile esotropia.

Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

PURPOSE: High-resolution magnetic resonance imaging (MRI) can now directly demonstrate innervation to extraocular muscles and quantify optic nerve size. A quantitative MRI technique was developed to study the oculomotor nerve (CN3) and applied to congenital fibrosis of extraocular muscles (CFEOM) and congenital oculomotor palsy. METHODS: The subarachnoid portions of the CN3s were imaged with a 1.5-T MRI scanner and conventional head coils, acquiring heavily T(2)-weighted oblique axial planes 1-mm thick and parallel to the optic chiasm. Thirteen normal subjects, 14 with CFEOM, and 3 with congenital CN3 palsy were included. Digital image analysis was used to measure CN3 diameter, which was correlated with motility findings. RESULTS: In CFEOM, CN3 diameter was bilaterally subnormal in eight subjects, unilaterally subnormal in three subjects, and normal in three subjects. Mean +/- SD CN3 diameter in CFEOM was 1.14 +/- 0.61 mm, significantly smaller than the diameter in normal subjects, which measured 2.01 +/- 0.36 mm (P < 0.001). CN3 diameter variably correlated with clinical function. One subject with congenital CN3 palsy showed bilateral CN3 hypoplasia, but CN3 diameter was normal in two other subjects with congenital CN3 palsy. CONCLUSIONS: Unilateral or bilateral hypoplasia of CN3 is quantitatively demonstrable using MRI in many cases of CFEOM and occasionally in congenital CN3 palsy. Variations in CN3 diameter in CFEOM and congenital CN3 palsy suggest mechanistic heterogeneity of these disorders that may be clarified by further imaging and genetic studies.

Genetic basis of congenital strabismus.

Strabismus is misalignment of one eye in relation to the other, resulting in failure of the 2 eyes to simultaneously focus on the same image and loss of binocular vision. Strabismus affects 2% to 4% of the population and can result in amblyopia, which is often not discovered in time to initiate effective treatment. Thus, an understanding of the genetic underpinnings of strabismus may help identify patients at risk early enough to prevent disability and may lead to new preventive or therapeutic approaches.

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.

Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and orthoptic assessments. Twelve patients had pupillary pharmacological testing and nine had 3.0 tesla MRI of the brain, brainstem and orbits. Patients were born with severe bilateral ptosis and exotropia with almost complete bilateral absence of adduction, elevation, depression and intorsion. Variable abduction was present prior to strabismus surgery in 14 patients, and central ocular motility reflexes (smooth pursuit, saccades, vestibulo-ocular reflex and optokinetic reflex) were intact except for convergence. Pupillary light and near reflexes were not present, but irises were anatomically normal and responded to pupillary pharmacology. Neuroimaging of brain and brainstem was remarkable for the anatomical absence of cranial nerve (CN) 3 and probably CN 4 bilaterally. Therefore, the CFEOM2 phenotype and neuroimaging are both consistent with the congenital absence of CNs 3 and 4. Additional features included presence of most central ocular motility reflexes, a central lack of pupillary responsiveness of uncertain aetiology and modest phenotypic variability that does not correlate with specific PHOX2A mutations. Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes.

Surgical correction of synergistic divergence strabismus. A report of three cases.

BACKGROUND AND PURPOSE: To review and explain some of the characteristics of synergistic divergence and compare the surgical effect on each of those characteristics. METHODS OF STUDY: Three patients demonstrating findings characteristic of synergistic divergence, two bilateral and one unilateral, are reported. Surgery consisted of denervation extirpation of the lateral rectus muscle along with resection of the medial rectus muscle of the affected eye or supramaximal recession of the lateral rectus muscle and resection of the antagonist medial rectus muscle of the affected eye. RESULTS: The simultaneous abduction and the abnormal head posture responded well to surgery. The exotropia was reduced. The deficient adduction, the total absence of active abduction and the infraduction of the synkinetically abducting eye remained unchanged. CONCLUSIONS: Synergistic divergence is a severe exotropic form of Duane's Syndrome where the feature of simultaneous abduction is the most striking. To date, no surgical procedure leads to satisfactory results on all the characteristics of synergistic divergence. Although some important features can be satisfactorily improved, some others do not respond to current surgical techniques.