Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.

BACKGROUND: The TUBB3 gene has been reported to be associated with type 3 congenital fibrosis of the extraocular muscles (CFEOM). The clinical features of CFEOM3 that are linked to TUBB3 mutations are diverse, ranging from mild ptosis and limitation of extraocular movement to severe ocular motility problems and central nervous system abnormalities. MATERIALS AND METHODS: This was a single retrospective case report. RESULT: This case report describes a patient with infantile esotropia, who had a heterozygous variant in TUBB3 c.904 G > A (p.A302T) known to cause CFEOM3 and her family members, who presented with manifestations associated with CFEOM3. CONCLUSION: Given the diverse clinical features of CFEOM3, the possibility of the occurrence of CFEOM3 should be considered when there is a congenital abnormality of extraocular muscle movement and a positive family history.

Long-Term Visual Prognosis in Patients With Aquaporin-4-Immunoglobulin G-Positive Neuromyelitis Optica Spectrum Disorder.

BACKGROUND: To identify the factors associated with visual prognosis for functional and structural outcomes of optic neuritis (ON) in patients with aquaporin-4-immunoglobulin (AQP4-IgG)-positive neuromyelitis optica spectrum disorder (NMOSD). METHODS: We included the eyes that experienced at least 1 episode of ON and were followed for at least 2 years after the first attack of ON in patients with AQP4-IgG-positive NMOSD. We performed a retrospective review of clinical data, including ophthalmological examination and orbital MRI, of 34 eyes of 22 patients. Functional outcomes were measured as final visual acuity, visual field index, and mean deviation and structural outcomes as final retinal nerve fiber layer (RNFL) and ganglion cell-inner plexiform layer (GCIPL) thickness. RESULTS: The mean age at onset of the first ON was 42.7 ± 13.7, and all patients were female. The poor visual acuity was significantly associated with the worse final visual acuity and thinner RNFL and GCIPL. Older age also showed a negative correlation with RNFL thickness. The number of attacks was not statistically significant for functional and structural outcomes. The lesion involving the intracanalicular optic nerve to the chiasm on orbital MRI showed worse visual acuity and a thinner GCIPL. Rapid high-dose intravenous methylprednisolone pulse therapy within 3 days was statistically significant, with better visual acuity and more preserved GCIPL thickness. CONCLUSIONS: Our results indicate that the severity of ON rather than the number of recurrences might be critical for the visual prognosis of patients with AQP4-IgG-positive NMOSD. Rapid treatment within 3 days may improve visual outcomes, and a younger age at onset may have better visual outcomes.

The effect of lacrimal drainage abnormality on the surgical outcomes of congenital lacrimal fistula and vice versa.

PURPOSE: To evaluate the various surgical modalities of congenital lacrimal fistula and assess the mutual effect of lacrimal fistula and lacrimal drainage abnormality on the individual surgical outcomes. METHODS: In this retrospective cohort and case-control study, 74 eyes from 63 patients with lacrimal fistula who underwent surgical management between 2000 and 2015 at three medical centers were enrolled. The data collected included sex, age, preoperative symptoms, presence of concurrent lacrimal drainage abnormality, surgical methods, and surgical outcomes. The main outcome measures were treatment outcomes based on lacrimal drainage patency and symptom improvement, surgical outcome of fistulectomy according to the presence of lacrimal drainage abnormality, and surgical outcome of lacrimal drainage abnormality according to the presence of fistula. RESULTS: The mean age at the time of surgery was 9.2 (SD, ±8.8) years and the mean follow-up duration was 14.4 (SD, ±19.5) months. All eyes (37/37) with fistula without lacrimal drainage abnormality demonstrated surgical success after simple fistulectomy. Patients with concurrent lacrimal drainage abnormalities showed more frequent surgical failure than those with fistula alone (p = 0.009). However, the presence of fistula did not affect the outcomes of surgery for lacrimal drainage abnormality (p = 0.179). CONCLUSION: Simple fistulectomy is sufficient for sole asymptomatic or pauci-symptomatic lacrimal fistula. Symptomatic fistula as well as those accompanied with lacrimal drainage abnormality underwent fistulectomy and lacrimal drainage system surgery. Patients with accompanying lacrimal drainage system abnormalities showed less favorable outcomes. Meticulous preoperative examination of the lacrimal drainage system is critical for surgical planning and prognosis prediction.

Investigation of transient eye closure evoked with bright light in the patients with intermittent exotropia.

BACKGROUND: This study aimed to present a simple method for evaluating transient eye closure (TEC) evoked by bright light and find the agreement between TEC and photosensitivity. We also assessed the associated factors with TEC in the patients with intermittent exotropia (IXT). METHODS: In this retrospective study, IXT patients were exposed to different brightness: darkness, low-intensity white light, and high-intensity white light using a near-infrared camera vision monitor system (Mon CV3, Metrovision, France). TEC was considered to be present if the subject closed his or her eyes immediately, and for more than half of the scotopic lid fissure distance in response to the high-intensity or low-intensity photopic stimulus of light, compared with lid fissure distance in the scotopic phase. We assessed the presence of photosensitivity using a questionnaire and evaluated the agreement between TEC and photosensitivity. We also investigated the sensory fusion, motor fusion, and pupil dynamic components for the existence of TEC in IXT patients. RESULTS: Sixty-one patients with IXT were included. With the new method to evaluate TEC under different light intensities, 27 (44.3%) of the 61 IXT patients showed TEC, and 34 (55.7%) did not demonstrate TEC. TEC under high-intensity white light had a strong correlation with self-reporting photosensitivity (r = 0.77). The smaller angle of deviation at near was associated with the presence of TEC, with statistical significance (p = 0.04). Normal sensory status at a distance was significantly associated with TEC (p <  0.01). Multivariate analysis using multiple logistic regression analysis showed that normal sensory status was significantly associated with TEC (p = 0.02). CONCLUSIONS: The test using a near-infrared camera vision monitor system was a simple and objective tool in identifying TEC evoked by bright light. The presence of TEC strongly correlated with self-reporting photosensitivity in patients with IXT. However, TEC may be an independent phenomenon with motor alignment, stereopsis, and pupil reflex pathway in patients with IXT.

Characteristics of pupil palsy in miller-fisher syndrome: case reports and review of the literature.

Pupil palsy has been a frequent finding in Miller Fisher syndrome (MFS), but its clinical characteristics have not been clearly defined. The basis for differential diagnosis with other diseases with pupil palsy has also remained vague. We report cases of four MFS patients with bilateral pupil palsy and specify pupil characteristics of light-near dissociation (LND), cholinergic super-sensitivity, vermiform movements, and prognosis. We conducted a literature review to compare with our cases and investigate common findings of pupil palsy in MFS patients. We suggest that the acute generalized pupil palsy without vermiform movements can serve as a key finding for the diagnosis of pupil palsy associated with MFS. However, the presence of LND and cholinergic super-sensitivity was not distinctive clinical findings in MFS patients who had pupil palsy and did not prove useful for differential diagnosis. The prognosis of pupil palsy in MFS patients was good in our 4 cases and the literature review.

Effect of prism adaptation in patients with partially accommodative esotropia: clinical findings and surgical outcomes.

PURPOSE: To assess the effects of prism adaptation on the surgical outcomes of individuals with partially accommodative esotropia (PAET). METHODS: The medical records of 51 patients with PAET who were managed surgically at single referral center were retrospectively reviewed. Patients were divided into two groups according to prism adaptation. Data about sex, age, initial angle of deviation, final angle of deviation, stereoacuity, surgical dosage, and follow-up periods were collected. The main outcome of this study was motor outcomes at 12 months. RESULTS: Eighteen patients had a history of prism adaptation (PA group) and 33 did not (augmented surgery group, AS group). One year after surgery, 12 (66.7%) patients in the PA group and 21 (63.6%) in the AS group achieved an angle of deviation less than 5 PD. The surgical success rate in both groups did not significantly differ (p = 1). After the first prism adaptation test, six patients had an angle of deviation similar to the previous angle; however, 12 patients had larger angle, and consequently required additional prism (prism builder). Two (33.3%) patients who were prism non-builders had deviation less than 5 PD during the final visit. However, among the prism builders, four (57.1%) and five (100%) patients who had prism added once and more than once, respectively, had less than 5 PD deviation during the final visit (p = 0.03). CONCLUSION: No significant differences were observed in terms of surgical outcomes between both groups. Nonetheless, in PA group, prism builders have better surgical outcomes than non-builders.

Pediatric Miller Fisher Syndrome; Characteristic Presentation and Comparison with Adult Miller Fisher Syndrome.

BACKGROUND: We aimed to investigate the characteristic presentation of Miller Fisher syndrome (MFS) in pediatrics and compare it with that in adults. METHODS: We performed a retrospective review of medical records, laboratory findings, and disease course of pediatric MFS. The data were compared with those of adult MFS, and literature review was done. Unpaired and paired comparisons between groups were made using Wilcoxon rank-sum and signed-rank tests, respectively. RESULTS: Median age for pediatric MFS was 9.8 ± 6.5 years. There were 5 (45.5%) male and 6 (54.5%) female patients. All patients had preceding infection. Two patients (22.2%) had tested positive for anti-GQ1b antibody. Ten patients (90.1%) were treated with intravenous immunoglobulin, and 2 (18.2%) also received intravenous methylprednisolone. Within one month, 8 (72.7%) patients showed recovery, and all 11 (100%) recovered fully within 3 months. Further, the pediatric group had higher frequency of unilateral involvement of ophthalmoplegia, ataxia, and autonomic symptoms but lower antiganglioside antibody positivity and manifestations of areflexia than the adult group. CONCLUSIONS: Neuro-ophthalmic manifestations and disease course of pediatric MFS were similar to those of adult MFS as stated in the literature. However, the presence of autonomic symptoms was higher and anti-GQ1b antibody positivity was lower in pediatric MFS than in adult MFS.

Breath Acetone Measurement-Based Prediction of Exercise-Induced Energy and Substrate Expenditure.

The purpose of our study was to validate a newly developed breath acetone (BrAce) analyzer, and to explore if BrAce could predict aerobic exercise-related substrate use. Six healthy men ran on a treadmill at 70% of maximal oxygen consumption (VO2max) for 1 h after two days of a low-carbohydrate diet. BrAce and blood ketone (acetoacetate (ACAC), beta-hydroxybutyrate (BOHB)) levels were measured at baseline and at different time points of post-exercise. BrAce values were validated against blood ketones and respiratory exchange ratio (RER). Our results showed that BrAce was moderately correlated with BOHB (r = 0.68, p < 0.01), ACAC (r = 0.37, p < 0.01) and blood ketone (r = 0.60, p < 0.01), suggesting that BrAce reflect blood ketone levels, which increase when fat is oxidized. Furthermore, BrAce also negatively correlated with RER (r = 0.67, p < 0.01). In our multiple regression analyses, we found that when BMI and VO2max were added to the prediction model in addition to BrAce, R2 values increased up to 0.972 at rest and 0.917 at 1 h after exercise. In conclusion, BrAce level measurements of our BrAce analyzer reflect blood ketone levels and the device could potentially predict fat oxidation.

Comparison between optic neuritis associated with antibody against myelin oligodendrocyte glycoprotein and presumed idiopathic optic perineuritis.

BACKGROUND: The aim of this study was to determine important clinical and radiological features that aid in distinguishing presumed idiopathic optic perineuritis (OPN) from optic neuritis (ON) associated with antibody against myelin oligodendrocyte glycoprotein (MOG-Ab). METHODS: This retrospective, case-control study recruited patients with MOG-Ab-associated ON from 2011 through 2018 and idiopathic OPN from 2009 through 2011. The presence of MOG-Ab was not investigated in idiopathic OPN, because MOG-Ab testing was not available until 2011. The clinical and radiological features and the disease course were compared between the two patient groups. RESULTS: A total of 48 patients with MOG-Ab-associated ON were identified. These included 15 patients showing optic nerve sheath enhancement (ONSE) and 33 with only optic nerve enhancement. Ocular pain with ocular movement and optic disc swelling were more common in patients with ONSE, who also exhibited a poorer initial visual acuity than did those without ONSE. However, the response to steroid treatment, incidence of relapse after steroid treatment, and visual outcome at the last visit were similar between subgroups. The clinical and radiological features and treatment outcome were similar between these patients with OPN and patients with MOG-Ab-associated ON with ONSE. On the other hand, the clinical features of MOG-Ab-associated ON without ONSE differed from those of idiopathic OPN. CONCLUSION: Our findings showed a substantial proportion of ONSE in patients with MOG-Ab-associated ON. In view of the similarities between these patients and patients with OPN, MOG-Ab testing should be performed in all patients with idiopathic OPN.