Intraocular pressure changes at different gaze positions after superior rectus muscle-lateral rectus muscle loop myopexy in highly myopic strabismus.

PURPOSE: To evaluate changes in intraocular pressure (IOP) at different gaze positions before and after superior rectus muscle-lateral rectus muscle (SR-LR) loop myopexy in highly myopic strabismus (HMS). STUDY DESIGN: Nonrandomized clinical, prospective, interventional trial. METHODS: Fourteen patients with HMS (18 eyes) who underwent SR-LR loop myopexy were divided into 3 groups: < 100 prism diopters (PD) (mild esotropia [ET] group), > 100 PD (large ET group), and > 100 PD, and simultaneous recession of the medial rectus (MR) muscle was performed (large ET + MR group). Intraocular pressure was measured preoperatively and postoperatively at the primary, abduction, and adduction positions in each group. RESULTS: Intraocular pressure did not change after surgery in the mild ET group. Intraocular pressure significantly decreased in the abduction position (from 20.0 ± 2.1 to 16.0 ± 1.9 mmHg, P = 0.043) in the large ET group and in the abduction (from 22.2 ± 5.9 to 15.6 ± 4.3 mmHg, P = 0.048) and primary positions (from 15.8 ± 5.0 to 10.2 ± 2.8 mmHg, P = 0.043) in the large ET + MR group. The preoperative significant differences in IOP between the abduction and adduction positions in the large ET group (7.4 ± 3.4 mmHg) and the large ET + MR group (10.0 ± 5.5 mmHg) disappeared postoperatively (3.2 ± 2.8 mmHg and 3.6 ± 1.7 mmHg, respectively). The differences in IOP between abduction and adduction were similar in all the groups. CONCLUSION: SR-LR loop myopexy decreased IOP in patients with HMS in the abduction and primary positions.

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.

BACKGROUND: Axial spondylometaphyseal dysplasia(axial SMD) is associated with early-onset retinal dystrophy and various skeletal dysplasias of varying severity. NEK1 is the causative gene for short rib polydactyly syndrome and axial SMD. Here, we report a case of siblings with juvenile retinitis pigmentosa (RP) and NEK1 variants not associated with systemic disorders. MATERIALS AND METHODS: The patients were a 7-year-old-girl and a 9-year-old boy with RP, who were followed for 9 years. Whole exome sequencing (WES) was performed on the siblings and their parents, who were not consanguineous. RESULTS: The corrected visual acuity of the girl and the boy at first visit was binocular 20/63 and 20/100 OD and 20/63 OS, respectively. The siblings had narrowing of retinal blood vessels and retinal pigment epithelium atrophy in the fundus and showed an extinguished pattern in electroretinogram. On optical coherence tomography, there was a mottled ellipsoid band with progressive loss in the outer macular, the edges of which corresponded to the ring of hyperautofluorescence on fundus autofluorescence imaging. The siblings showed progressive visual field constriction. Radiological examination did not reveal any skeletal abnormalities. We identified two rare heterozygous NEK1 variants in the patients: c.240 G>A; p.(M80I) and c.634_639dup;p.(V212_L213dup). Heterozygous variants were recognized in the father and mother, respectively. According to the guidelines of the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic. CONCLUSION: This is the first report of RP patients with NEK1 variants not associated with skeletal abnormalities.

Intraocular pressure at different gaze positions in patients with highly myopic strabismus.

PURPOSE: To evaluate intraocular pressure (IOP) at different gaze positions in patients with highly myopic strabismus (HMS). STUDY DESIGN: Nonrandomized, prospective, observational study. METHODS: This study included 18 eyes of 14 patients with HMS and 51 eyes of 51 age-matched controls without strabismus; these were further divided into two groups based on refractive errors: > -6.00 diopter (D) (n = 22 eyes) and ≤ -6.00 D (n = 29 eyes). IOP was measured in primary and side gazes and compared within and among groups. The relationships between IOPs and axial length, angle of globe dislocation measured on magnetic resonance imaging, strabismus angle, and degree of abduction deficit were studied. RESULTS: The HMS group showed higher IOP in abduction (19.3 ± 4.9 mmHg) than in the primary (12.5 ± 4.3 mmHg) and adducting positions (13.0 ± 3.3 mmHg), (p < 0.001). The IOP in the adducting position in the HMS group (13.0 ± 3.3 mmHg) was lower than in the control groups both with (17.6 ± 3.5 mmHg) and without (16.9 ± 4.1 mmHg) high myopia, ; (p < 0.001 and = 0.003). The difference in IOP between abduction and adduction was significantly larger in the HMS group (6.4 ± 4.6 mmHg) compared to others (p < 0.001) and positively correlated with the strabismus angle and the angle of globe dislocation and negatively with abduction deficit. CONCLUSION: The IOP of patients with HMS changes dramatically on side gazes, therefore, care should be taken while measuring IOP.

Exophthalmos associated with chronic progressive external ophthalmoplegia.

PURPOSE: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused on the incidence of exophthalmos in patients with CPEO. STUDY DESIGN: Retrospective observational case series METHODS: We reviewed the clinical charts of patients who received a diagnosis of CPEO sometime during the period between January 2010 and December 2018. CPEO was diagnosed on the basis of detection of a deletion of mitochondrial DNA (mtDNA) from saliva, buccal mucosa, or extraocular muscle specimens obtained during strabismus surgery. Horizontal MRI/CT images or Hertel ophthalmometry was used in determining exophthalmos. RESULTS: Seven patients (4 males) were identified. The mean age at diagnosis was 32.6 years (range 13-53 years). mtDNA deletion mutations were detected in the buccal mucous membrane DNA in 5 patients and in the saliva and extraocular muscle DNA in 2 patients. MRI/CT was recorded in 6 patients, four of whom showed exophthalmos (cases 1-4), and case 5 was determined as exophthalmos on the basis of a Hertel ophthalmometer reading. Exophthalmos was bilateral in 4 of the patients (cases 1, 2, 4, and 5) and unilateral in 1 patient (case 3). Exophthalmos was the chief concern of 2 of the patients; however, it was not clinically significant in the other patients. CONCLUSIONS: Although exophthalmos may not be recognized by either the patient or the clinician, it may be one of the common features of CPEO. A large multiethnic study should be performed.

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.

PURPOSE: Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to clarify the clinical picture of retinal dystrophies caused by UPD. METHODS: WES analysis was performed for two patients and their parents, who were not consanguineous. Functional analysis was performed in cases suspected of congenital disorders of glycosylation (CDG). We obtained clinical case data and reviewed the literature. RESULTS: In case 1, a novel c.57G>C, p.(Trp19Cys) variant in SRD5A3 was detected homozygously. Genetic analysis suggested a maternal UPD on chromosome 4, and functional analysis confirmed CDG. Clinical findings showed early-onset retinal dystrophy, intellectual disability, and epilepsy. In case 2, an Alu insertion (c.4052_4053ins328, p.[Tyr1352Alafs]) in RP1 was detected homozygously. Maternal UPD on chromosome 8 was suspected. The clinical picture was consistent with RP1-related retinitis pigmentosa. Although the clinical features of retinal dystrophy by UPD may vary, most cases present with childhood onset. CONCLUSIONS: There have been limited reports of retinal dystrophy caused by UPD, suggesting that it is rare. Genetic counseling may be encouraged in pediatric cases of retinal dystrophy.

Medial Rectus Muscle Resection Versus Plication: A Comparison of Conjunctival-Scleral Thickness Measured by AS-OCT.

PURPOSE: To compare conjunctival-scleral thickness measured with anterior segment optical coherence tomography before and after medial rectus muscle resection and plication for exotropia. METHODS: In this prospective observational study, patients with exotropia aged 5 years and older who underwent medial rectus muscle resection or plication through limbal incision of the conjunctiva between April 2016 and June 2018 were enrolled. Conjunctivalscleral thickness was measured with anterior segment optical coherence tomography before and 3 and 6 months after surgery at 1.5 mm (limbus), 4 mm (insertion), and 5.5 mm (tendon) posterior to the scleral spur. One examiner made measurements twice blinded for the initial data. Conjunctival-scleral thickness was compared between groups using the Mann-Whitney U test. RESULTS: Twenty participants were divided into two groups: resection (n = 11) and plication (n = 9). The respective conjunctival-scleral thicknesses before and 3 and 6 months after surgery in the resection group were as follows: 0.76, 0.90, and 0.86 mm at the limbus; 0.86, 1.18, and 1.12 mm at the insertion; and 1.04, 1.41, and 1.33 mm at the tendon. Corresponding values in the plication group were as follows: 0.74, 0.87, and 0.81 mm at the limbus; 0.84, 1.16, and 1.08 mm at the insertion; and 1.00, 1.39, and 1.27 mm at the tendon. No between-group differences were observed at any location or time. CONCLUSIONS: No differences in conjunctival-scleral thickness were observed between the resection and plication groups before surgery or at 3 months and 6 months postoperatively. [J Pediatr Ophthalmol Strabismus. 2022;59(4):274-278.].

Effects of the Gaze Fixation Position on AS-OCT Measurements of the Limbus and Extraocular Muscle Insertion Site Distance.

PURPOSE: To investigate the effect of the gaze fixation position on measurement of the limbus and extraocular muscle (EOM) insertion site distance using anterior segment optical coherence tomography (AS-OCT). METHODS: Patients undergoing horizontal EOM surgeries were enrolled in this prospective experimental study. The distance between the angle recess and the muscle insertion site was measured using AS-OCT while patients fixed their gaze laterally or medially at inner or outer gaze fixation. The distance between the limbus and muscle insertion was intraoperatively measured using calipers. RESULTS: A total of 46 lateral rectus muscles and 36 medial rectus muscles of 44 patients were evaluated. Significant differences were observed between intra-operative measurements (6.3 ± 0.7 mm) and AS-OCT measurements (5.8 ± 0.7 mm) for the lateral rectus muscle at inner gaze fixation (P = .0017) and medial rectus muscle at outer gaze fixation (P = .0003); no difference was observed when the lateral rectus (6.4 ± 0.5 mm) and medial rectus (4.9 ± 0.6 mm) muscles were measured at outer and inner gaze fixation, respectively. Bland-Altman plots showed better consistency at outer gaze fixation than at inner gaze fixation for the lateral rectus muscle; the opposite was observed for the medial rectus muscle. More than 80% of the AS-OCT measurements were within 1 mm of the intraoperative measurements at outer gaze fixation for the lateral rectus muscle and inner gaze fixation for the medial rectus muscle. CONCLUSIONS: Gaze fixation at outer gaze fixation for the lateral rectus muscle and inner gaze fixation for the medial rectus muscle was an appropriate technique to assess limbus and EOM insertion using AS-OCT. [J Pediatr Ophthalmol Strabismus. 2021;58(1):28-33.].

Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.

PURPOSE: To report the diagnosis of three childhood patients with blue-cone monochromatism (BCM) using S-cone electroretinograms (ERG) recorded with RETeval® Complete. STUDY DESIGN: Prospective clinical study. METHODS: We examined three boys initially suspected of having rod monochromatism. S-cone ERG was performed with red background and blue flashed light stimulation using two different intensities: 0.25 cd × s/m2 and 1 cd × s/m2. RESULTS: Case 1 was a 12-year-old boy with a visual acuity of 0.1 OU. Case 2 was an 8-year-old boy with a visual acuity of 0.3 OD and 0.2 OS. Both cases showed a myopic fundus and nystagmus without any other ocular abnormalities. Case 3 was a 6-year-old boy with a visual acuity of 0.3 OD and 0.4 OS. He also showed myopic fundus changes, but nystagmus was not observed. Rod and maximal responses recorded with RETeval® were likely to be within normal range; however, cone responses were absent in all cases. S-cone ERGs showed positive responses at 40 ms with 0.25 cd × s/m2 intensity in Case 2, and at approximately 30-40 ms with 1.0 cd × s/m2 intensity in all three cases. These ERG findings led to a diagnosis of BCM. CONCLUSIONS: S-cone ERG of RETeval® was helpful in diagnosing with minimal invasion BCM in childhood patients.

Changes in conjunctival-scleral thickness after strabismus surgery measured with anterior segment optical coherence tomography.

PURPOSE: To evaluate changes in conjunctival-scleral thickness following strabismus surgery with anterior segment optical coherence tomography (AS-OCT). STUDY DESIGN: Prospective, observational, consecutive case series. METHODS: Distances between the conjunctival epithelium and inner scleral wall were measured with AS-OCT before and 3-5 months after strabismus surgery. The measurements were performed at 1.5 mm (limbus), 7.0 mm (insertion), and 8.0 mm (tendon) posterior to the scleral spur on the lateral rectus muscle (LR); and 1.5 mm (limbus), 4.0 mm (insertion), and 5.5 mm (tendon) posterior to the scleral spur on the medial rectus muscle (MR). Thirty-three extraocular muscles (20 LRs and 13 MRs) from 23 subjects were studied. RESULTS: Thicknesses were significantly less at the insertion (0.95-0.78 mm; p < 0.001) and tendon (0.99-0.78 mm; p < 0.001) after LR recession and at the tendon (1.21-0.92 mm; p = 0.02) after MR recession. Thicknesses were significantly greater at the insertion (0.82-1.07 mm; p = 0.01) and tendon (0.95-1.28 mm; p = 0.01) after MR resection or plication and at the limbus, insertion, and tendon (0.75-0.90 mm, 0.94-1.19 mm, 1.03-1.28 mm, respectively; all p = 0.04) after LR resection or plication. CONCLUSION: Conjunctival-scleral thicknesses showed various changes after recession and resection or plication. These findings may help detect previous surgical operations when conjunctival scarring and ciliary vessel changes are unclear.

Reduced anterior chamber contamination by frequent surface irrigation with diluted iodine solutions during cataract surgery.

PURPOSE: To verify that ocular surface irrigation with 0.025% povidone-iodine (PI) or 0.0025% polyvinyl alcohol-iodine (PAI) during cataract surgery minimizes bacterial contamination of the anterior chamber. METHODS: The study was a prospective, interventional case series. First, the bactericidal effect of PI or PAI against Staphylococcus aureus was evaluated in vitro. Next, in 400 eyes undergoing cataract surgery, the ocular surface was irrigated every 20 seconds during surgery with balanced salt solution (BSS; 200 eyes) or BSS containing 0.025% PI (100 eyes) or 0.0025% PAI (100 eyes). At the completion of surgery, anterior chamber fluid was cultured bacteriologically. Visual acuity (VA) and corneal endothelial cell density were measured before and 7 days after surgery. RESULTS: A marked bactericidal effect was observed when S. aureus was directly exposed for 15 seconds to 0.01% PI or 0.001% PAI diluted in BSS. When the two solutions were stored at room temperature, bactericidal effect did not attenuate after 60 min. The bacterial detection rate at the completion of surgery was significantly reduced in 0.025% PI (0%, 0/100 eyes) or 0.0025% PAI group (0%, 0/100 eyes) compared to BSS group (5%, 10/200 eyes) (p = 0.0340). No differences in postoperative visual acuity and postoperative corneal endothelial cell density were observed between three groups. CONCLUSION: In cataract surgery, irrigation every 20 seconds of the operative field with 0.025% PI or 0.0025% PAI, both of which contain 0.0025% available iodine concentration, achieved a very low bacterial contamination rate in the anterior chamber.

Frequency, source, and prevention of cotton fibers in the anterior chamber during cataract surgery.

PURPOSE: To prospectively evaluate the frequency of fibers in the anterior chamber during and after cataract surgery, their source, and preventive measures. SETTING: Department of Ophthalmology, Setagaya-Shimoda Hospital, Tokyo, Japan. METHODS: Slitlamp biomicroscopy was used to examine 422 eyes after cataract surgery for frequency of fibers in the anterior chamber. In another 78 eyes having cataract surgery, fibers in the anterior chamber were removed and compared with fibrous materials used during surgery using microscopic and Raman spectrometric analyses. Dust-generation tests were conducted on the fibrous materials used in surgery. In 337 eyes having cataract surgery, highly dust-generating materials were excluded during surgery and the frequency of fibers in the anterior chamber was determined. RESULTS: After surgery, fibers were detected in the anterior chamber in 7 (1.7%) of 422 eyes. No inflammation was observed during a 1-year follow-up. During surgery, fibers suspended in the anterior chamber were observed in 5 (6.4%) of 78 eyes. Microscopic and Raman spectrometric analyses showed that the fibers were identical to the cotton fibers in cotton balls and gauze. Cotton balls had the highest dust-generation rate of fibrous materials used intraoperatively. Excluding cotton balls significantly reduced the frequency of fibers to 5 (1.5%) of 337 eyes (P = .0239). CONCLUSIONS: During routine cataract surgery, fibers were introduced into the anterior chamber in 6.4% of cases. Of the fibrous materials used in surgery, cotton balls generated the most fibers. Eliminating cotton balls alone significantly reduced the frequency of fibers in the anterior chamber to 1.5%.

Isotopomeric characterization of N2O produced, consumed, and emitted by automobiles.

Fossil fuel combustion is the second largest anthropogenic source of nitrous oxide (N2O) after agriculture. The estimated global N2O flux from combustion sources, as well as from other sources, still has a large uncertainty. Herein, we characterize automobile sources using N2O isotopomer ratios (nitrogen and oxygen isotope ratios and intramolecular site preference of 15N, SP) to assess their contributions to total global sources and to deconvolute complex production/consumption processes during combustion and subsequent catalytic treatments of exhaust. Car exhaust gases were sampled under running and idling state, and N2O isotopomer ratios were measured by mass spectrometry. The N2O directly emitted from an engine of a vehicle running at constant velocity had almost constant isotopomer ratios (delta15Nbulk = -28.7 +/- 1.2 per thousand, delta18O = 28.6 +/- 3.3 per thousand, and SP = 4.2 +/- 0.8 per thousand) irrespective of the velocity. After passing through catalytic converters, the isotopomer ratios showed an increase which varied with the temperature and the aging of the catalysts. The increase suggests that both production and consumption of N2O occur on the catalyst and that their rates can be comparable. It was noticed that in the idling state, the N2O emitted from a brand new car has higher isotopomer ratios than that from used cars, which indicate that technical improvements in catalytic converters can reduce the N2O from mobile combustion sources. On average, the isotopomeric signatures of N2O finally emitted from automobiles are not sensitive to running/idling states or to aging of the catalysts. Characteristic average isotopomer ratios of N2O from automobile sources are estimated at -4.9 +/- 8.2 per thousand, 43.5 +/- 13.9 per thousand, and 12.2 +/- 9.1 per thousand for delta15Nbulk, delta18O, and SP, respectively.