Ocular motility disorders following coronavirus disease-19 vaccination.

PURPOSE: To describe clinical manifestations and short-term prognosis of ocular motility disorders following coronavirus disease-2019 (COVID-19) vaccination. METHODS: Ocular motility disorders were diagnosed by clinical assessment, high-resolution magnetic resonance imaging, and laboratory testing. Clinical manifestations, short-term prognosis, and rate of complete recovery were analyzed. RESULTS: Sixty-three patients (37 males, 26 females) with a mean age of 61.6 ± 13.3 years (range, 22-81 years) were included in this study. Among 61 applicable patients with sufficient information regarding medical histories, 38 (62.3%) had one or more significant underlying past medical histories including vasculopathic risk factors. The interval between initial symptoms and vaccination was 8.6 ± 8.2 (range, 0-28) days. Forty-two (66.7%), 14 (22.2%), and 7 (11.1%) patients developed symptoms after the first, second, and third vaccinations, respectively. One case of internuclear ophthalmoplegia, 52 cases of cranial nerve palsy, two cases of myasthenia gravis, six cases of orbital diseases (such as myositis, thyroid eye disease, and IgG-related orbital myopathy), and two cases of comitant vertical strabismus with acute onset diplopia were found. Among 42 patients with follow-up data (duration: 62.1 ± 40.3 days), complete improvement, partial improvement, no improvement, and exacerbation were shown in 20, 15, 3, and 4 patients, respectively. CONCLUSION: This study provided various clinical features of ocular motility disorders following COVID-19 vaccination. The majority of cases had a mild clinical course while some cases showed a progressive nature. Close follow-up and further studies are needed to elucidate the underlying mechanisms and long-term prognosis.

Non-Arteritic Ischemic Optic Neuropathy Following COVID-19 Vaccination in Korea: A Case Series.

BACKGROUND: To report the clinical manifestations of non-arteritic anterior ischemic optic neuropathy (NAION) cases after coronavirus disease 2019 (COVID-19) vaccination in Korea. METHODS: This multicenter retrospective study included patients diagnosed with NAION within 42 days of COVID-19 vaccination. We collected data on vaccinations, demographic features, presence of vascular risk factors, ocular findings, and visual outcomes of patients with NAION. RESULTS: The study included 16 eyes of 14 patients (6 men, 8 women) with a mean age of 63.5 ± 9.1 (range, 43-77) years. The most common underlying disease was hypertension, accounting for 28.6% of patients with NAION. Seven patients (50.0%) had no vascular risk factors for NAION. The mean time from vaccination to onset was 13.8 ± 14.2 (range, 1-41) days. All 16 eyes had disc swelling at initial presentation, and 3 of them (18.8%) had peripapillary intraretinal and/or subretinal fluid with severe disc swelling. Peripapillary hemorrhage was found in 50% of the patients, and one (6.3%) patient had peripapillary cotton-wool spots. In eight fellow eyes for which we were able to review the fundus photographs, the horizontal cup/disc ratio was less than 0.25 in four eyes (50.0%). The mean visual acuity was logMAR 0.6 ± 0.7 at the initial presentation and logMAR 0.7 ± 0.8 at the final visit. CONCLUSION: Only 64% of patients with NAION after COVID-19 vaccination have known vascular and ocular risk factors relevant to ischemic optic neuropathy. This suggests that COVID-19 vaccination may increase the risk of NAION. However, overall clinical features and visual outcomes of the NAION patients after COVID-19 vaccination were similar to those of typical NAION.

Current usage of electrophysiological tests in a secondary referral hospital in Korea.

PURPOSE: To investigate the current status of electrophysiological test use in ophthalmology. METHODS: We analyzed 1057 electrophysiological tests conducted at Kim's Eye Hospital from January 1 to December 31, 2018. The included tests were electroretinogram (full-field, multifocal, and pattern ERG), electrooculogram (EOG), and visual evoked potential (pattern and flash VEP). To investigate the distribution of use of subspecialties, it was divided by subspecialties (retina, glaucoma, oculoplastic surgery, pediatric ophthalmology, neuro-ophthalmology, cornea, and external diseases). RESULTS: The patients were aged 50.6 years on average and included 624 men and 433 women. Among the electrophysiological tests, VEP was the most common, with 567 cases (53.6%), followed by ERG with 311 cases (29.4%) and EOG with 98 cases (9.3%). Regarding the purpose of use, the objective of visual function evaluation was the highest at 56.3%, followed by the differential diagnosis of unknown causes (33.0%) and the confirmation of diagnoses (10.7%). Both VEP and ERG were used the most for visual function evaluation, and mfERG was most used for differential diagnosis of unknown etiology. Electrophysiological tests were most often used in the retina department, but VEPs were used in various fields such as neuro-ophthalmology, glaucoma, and oculoplastics. CONCLUSION: Electrophysiological tests are used to objectively evaluate visual function or discriminate diseases of unknown causes and are used in various departments. Electrophysiology testing is expected to be an additional test to assess visual function.

Non-adjustable surgery for acute acquired comitant esotropia under general anesthesia.

PURPOSE: To investigate the surgical results of the non-adjustable suture technique under general anesthesia for the correction of acute acquired comitant esotropia. STUDY DESIGN: Retrospective case study. METHODS: Patients with acute acquired comitant esotropia who underwent corrective surgery from September 2008 to June 2018 were included. Surgical treatment was conducted based on the measured maximum angle after occlusion for at least 1 h; all surgeries were performed using the non-adjustable suture technique under general anesthesia. Motor success was categorized into three groups: good, ortho; fair, 2 to 8 prism diopters (PD); and poor, over 8 PD. Sensory success was divided into two groups: good (no diplopia with binocular vision) and poor (no stereopsis with diplopia). RESULTS: 40 patients (21 male and 19 female, 28.78 ± 15.32 years old) were included. Preoperative esodeviation was 28.0 ± 12.8 PD. Mean refractive error was - 2.5 ± 2.5 D (spherical equivalent). After the occlusion of one eye, 14 patients (35%) showed an esodeviation increase of more than 5 PD. There were 70% good, 25% fair, and 5% poor outcomes regarding motor success. 96% of the patients demonstrated good sensory success. CONCLUSION: The non-adjustable correction based on the maximum angle after 1 h had a relatively excellent motor and sensory success rate.

New Insight: Preperimetric Homonymous Hemianopia.

A 29-year-old man was referred to our institution for a visual function evaluation 14 months after a traffic accident. His best-corrected visual acuity was 1.0 in both eyes. Brain magnetic resonance imaging revealed multifocal encephalomalacic changes in the left frontal and left temporal cortical and subcortical regions. Focal encephalomalacic changes in the left basal ganglia were observed in association with passive dilation of the left lateral ventricle, due to the presence of old haemorrhage. A non-specific scattered scotoma was found in the left eye. Spectral-domain optical coherence tomography (SD-OCT) was performed and peripapillary retinal nerve fibre layer (RNFL) thickness was reduced in the superotemporal and inferotemporal quadrants of the ipsilateral eye and the temporal and superonasal quadrants in the contralateral eye. SD-OCT revealed retinal ganglion cell degeneration extending from the nasal retina to the fovea in the right eye and from the temporal retina to the fovea in the left eye. In this patient, retrochiasmal defects resulted in RNFL defects corresponding to homonymous hemianopia without a visual field defect. Therefore, SD-OCT can be used to rule out a preperimetric homonymous hemianopia. This information would help to confirm the existence of an optic tract lesion before visual field defects.

Korean version of the MNREAD acuity chart.

To investigate the efficacy of the Korean version of the Minnesota low vision reading chart. A Korean version consisting of 38 items was prepared based on the MNREAD acuity chart developed by the University of Minnesota. A linguist composed the representative sentences, each containing nine words from second and third grade levels of elementary school. Reading ability was measured for 20-35-year-old subjects with normal visual acuity (corrected visual acuity of logMAR 0.0 or better). The maximum reading speed (words per minute [wpm]) for healthy participants, reading acuity (smallest detectable font size), and critical print size (smallest font size without reduction of reading speed) were analyzed. The average age of the subjects was 28.3 ± 2.6 years (male:female ratio, 4:16). The average reading time for 38 sentences was 3.66 ± 0.69 s, with no differences in the average maximum reading speed between sentences (p = 0.836). The maximum reading speed was 174.2 ± 29.3 and 175.4 ± 27.8 in the right and left eye, respectively. Reading acuity was measured as logMAR 0.0 or better in 80% of the cases. All subjects showed a critical print size of 0.2 logMAR or better. The overall reading ability can be measured using the Korean version of the MNREAD acuity chart, thereby making it useful in measuring the reading ability of those with Korean as their native language.

Effect of Bergmeister papilla on disc parameters in spectral domain optical coherence tomography.

OBJECTIVES: To investigate the morphological characteristics of Bergmeister papilla (BMP), a persistent hyaloid remnant tissue, and its effects on the measurements and repeatability of spectral-domain optical coherence tomography (OCT). SUBJECTS/METHODS: The subjects of this prospective cross-sectional study including 83 patients with BMP and 76 unaffected individuals, all had open-angle structures. Images, including a 5-line raster and three consecutive optic disc cube scans centred on the optic disc, were acquired using the Cirrus high-definition OCT. BMP's structural characteristics were classified based on the raster scan images, and repeatability of acquiring optic nerve head and retinal nerve fibre layer parameters acquisition was analysed by calculating the test-retest standard deviation (Sw), coefficient of variance (CV), and intraclass correlation coefficient. RESULTS: BMPs (n = 83) were categorised into lifting edge (LE) type (63.9%, n = 53), which partially covers the edge of the optic nerve head, and covering disc (CD) type (36.1%, n = 30), which completely covers the cupping area like a cap. The average cup-to-disc ratio (0.58 ± 0.21), vertical cup-to-disc ratio (0.55 ± 0.21), and cup volume (0.22 ± 0.22) of the CD type were lower than those of the LE type (0.66 ± 0.13, 0.64 ± 0.13, and 0.4 ± 0.27, respectively; all P < 0.05). Tolerability indices for repeatability of cup volume (Sw = 0.40 and CV = 0.36) and inferonasal (4 o'clock) retinal nerve fibre layer (Sw = 0.27 and CV = 0.25) in LE-type BMPs exceeded the cut-off value (0.22) and demonstrated stronger correlation with BMP location than that of the controls. CONCLUSION: Caution should be exercised when interpreting OCT findings in eyes with BMP, as BMP can introduce a pitfall in OCT imaging.

Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy.

INTRODUCTION: To report spectral domain optical coherence (OCT) tomography findings in a case of bilateral peripheral cone dystrophy. CASE REPORT: A 21-year-old man complained of blurred visual fields on the lateral sides of both eyes. The patient's best-corrected visual acuity was 20/20 in both eyes. Fundus examination revealed mild temporal pallor, while fluorescein angiography did not show any abnormalities. Humphrey's visual field revealed a C-shaped scotoma. Photopic electroretinogram (ERG) and 30-Hz flicker revealed decreased cone function; however, scotopic ERG noted a normal response. Multifocal ERG revealed a relatively well-preserved macular area but with reduced amplitude in the peripheral areas of both eyes. On OCT, the photoreceptor inner and outer segment junction and retinal pigment epithelium (RPE) layers were well preserved in both eyes, except for a slight decrease in outer layer thickness. Moreover, on the macular thickness map obtained from Cirrus HD-OCT, a reduction in internal limiting membrane-RPE thickness that correlated well with visual field defects was revealed in both eyes. On the retinal nerve fiber layer (RNFL) thickness map obtained from Cirrus HD-OCT, the superior quadrant showed decreased RNFL thickness; however, thickness in the temporal quadrant corresponded with thickness in the macular area and was normal in both eyes. DISCUSSION: The OCT of a patient with peripheral cone dystrophy revealed decreased thickness of the macula with well-preserved retinal structures, which may be one of the distinctive features of this condition.

Biometry and spectral domain optical coherence tomography parameters in children with large cupping.

PURPOSE: The purpose of this study is to investigate optic nerve head using spectral domain optical coherence tomography (SD-OCT) in children with large cupping. METHODS: 111 eyes (4-10 years) were divided into three groups according to the cup to disc ratio: group 1, ≤0.3; group 2, 0.4-0.6; and group 3, ≥0.7. The rim area, disc area, average cup to disc ratio, vertical cup to disc ratio, and cup volume were investigated using SD-OCT (Cirrus HD-OCT, Carl Zeiss, Jena, Germany), and the axial length and anterior chamber depth (ACD) were measured by IOL master (IOL master 500, Carl Zeiss, Jena, Germany). Next, we compared ocular biometry and SD-OCT between the three groups. RESULTS: The mean age of group 1 was 6.48 ± 1.42 years, 7.00 ± 1.75 years in group 2, and 6.63 ± 1.82 years in group 3 (p = 0.370). A significant difference was seen in the spherical equivalent between the groups (p = 0.001). Group 2 had the most myopic refractive errors. As the cup to disc ratio increases, disc area, average cup to disc ratio, vertical cup to disc ratio, and cup volume increase significantly. When the results of ocular biometry and SD-OCT are adjusted for axial length, only disc area showed a significant correlation with cup to disc ratio (ACD: p = 0.473, rim area: p = 0.639, disc area: p = 0.005, and cup volume: p = 0.325). CONCLUSION: Axial length is the key factor determining disc size, which in turn is important for determining cup to disc ratio. Normal children with large cupping should be examined for axial length, myopic refractive errors, and disc size.

Psychosocial distress of part-time occlusion in children with intermittent exotropia.

PURPOSE: To evaluate the psychosocial distress of part-time occlusion therapy in intermittent exotropia. METHODS: A total of 25 children (15 males and 10 females, aged 3 to 7 years, mean age 4.7 years) with intermittent exotropia were enrolled. Behavioral and psychosocial problems were assessed by the Korean Child Behavior Checklist (K-CBCL), which consists of eight categories of withdrawal, somatic problems, depression/anxiety, social problems, thought problems, attention problems, delinquent behavior, and aggressive behavior, and the Amblyopia Treatment Index (ATI). The ATI was designed to evaluate the three factors of compliance, adverse effect, and social stigma. The Parenting Stress Index (PSI) is a parent self-report designed to identify potentially dysfunctional parent-child systems. The K-CBCL was obtained before and after occlusion therapy, and the ATI and PSI were taken from parents only after occlusion therapy. We evaluated the change on the K-CBCL and the correlation between the K-CBCL and ATI. RESULTS: The attention problem assessed by the K-CBCL significantly decreased after occlusion therapy. On the ATI, the social stigma was relatively lower than compliance and adverse effect factors (Likert scale 2.64, 3.11, and 3.11, respectively). The somatic problem assessed by the K-CBCL and compliance on the ATI were significantly correlated (p = 0.014). There was no significant change in percentile scores of each subscale (parental dominant scale and child dominant scale) of the PSI. Total stress index before and after occlusion therapy was 97.16 ± 8.38 and 97.00 ± 8.16 respectively (p = 0.382). CONCLUSIONS: Occlusion therapy may influence the psychosocial impact on intermittent exotropia patients. Part-time occlusion significantly decreased the attention problem in children with intermittent strabismus. Children with a high somatic problem score on the KCBCL showed poor compliance to the part-time occlusion.

Clinical characteristics depending on magnetic resonance imaging patterns in idiopathic isolated optic neuritis.

To investigate differences in clinical features based on magnetic resonance imaging (MRI) in idiopathic isolated optic neuritis patients. We retrospectively analyzed 68 eyes of 59 patients diagnosed with optic neuritis and showed inflammatory findings indicative of optic neuritis on MRI. We investigated clinical features, such as the presence of accompanying pain, visual acuity, and optic disc swelling. Optic disc swelling was classified as normal, mild, or severe. The MRI results were divided into intraorbital, intracanalicular, and whole optic nerve according to the lesion, and these were compared and analyzed with clinical features. The study included 29 men and 30 women, with a mean age of 42.6 ± 16.6 years. Among 59 patients, 48 (81.4%) complained of pain. Optic disc swelling was not observed in 48.5% of patients (33 eyes). Inflammatory changes were the most common in the intraorbital region (33 eyes), intracanalicular region (20 eyes), and the entire optic nerve (15 eyes). There was no statistical difference in the pain pattern according to the location of the lesion (p = .677), but when inflammation was present in the entire optic nerve, optic disc swelling was severe (p = .023). The initial and final visual acuity did not significantly correlate with the MRI pattern, presence of pain, or optic disc swelling (p = .156, p = .714, and p = .436). The MRI contrast enhancement pattern was associated with optic disc swelling but was not associated with pain or initial visual acuity. It should be noted that it is insufficient to judge the clinical features of optic neuritis based on MRI findings.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available in clinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especially Asian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severe nyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other genetic mutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal in early childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy, which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinal dystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy product for the treatment of RPE65-related retinal dystrophy.

Effect of fibrin glue as an adjuvant to hang-back surgery.

BACKGROUND: The hang-back surgery is a useful technique in the field of strabismus surgery. The aim of this study is to determine the stabilizing effects of fibrin glue as an adjuvant to hang-back surgery. MATERIALS AND METHODS: Four (4)-mm hang-back recessions of the superior rectus muscle was performed in 32 eyes of 16 rabbits. Only in the left eye of the 16 rabbits, fibrin glue was applied between the recessed muscle bed and the sclera at the end of hang-back surgery (fibrin glue group). After 6 weeks, we compared the stability of the recessed rectus muscle between the fibrin glue group and the control group by evaluating the displacement of the muscle. RESULTS: The frequency of stable insertion of the recessed muscle at the intended site was greater in the fibrin glue group (9 eyes) compared to the control group (3 eyes) (p=0.028). In the control group, 5 eyes showed anterior displacement and 8 eyes showed posterior displacement and in the fibrin glue group, 1 eye showed anterior displacement, and 6 eyes showed posterior displacement. Anterior displacement was more common in the control group (6.3% Vs 31.3%). The control group and the fibrin glue group showed similar histological findings on microscopic examination. CONCLUSIONS: Fibrin glue is effective in stabilizing the new rectus muscle insertion and decreasing the displacement in the hang-back surgery.

Surgical Outcomes of Nonadjustable Modified Harada-Ito Surgery.

PURPOSE: This study aimed to investigate the surgical outcomes of nonadjustable Harada-Ito surgery under general anesthesia. METHODS: Twenty-two patients who underwent nonadjustable modified Harada-Ito surgery under general anesthesia were reviewed retrospectively. Among them, 21 out of the 22 patients who were followed up for 6 months after surgery were included in this study. Subjective cyclotorsion (double Maddox rod test) and objective cyclotorsions (fundus photography) were measured. Success of the surgery was defined as follows: success (the patients do not acknowledge diplopia at any direction), partial (the patients feel diplopia at a specific direction, but they do not feel discomfort in routine life), and fail (the patients feel diplopia in primary gaze, hence requiring a thorough investigation). RESULTS: The mean age of the patients (18 male and 3 female) was 56.5 years (range, 40-77 years). Based on the alternate prism cover test, the patients had 4.2 ± 3.0 prism diopters of vertical deviation. The corrected amounts of cyclotorsion based on the double Maddox rod test and fundus photography were 14.8° ± 7.5° and 9.8° ± 7.9°, respectively, and were significantly different between the two methods (p = 0.006). After the surgery, 20 out of the 21 patients (95.2%) completely recovered from diplopia in the primary gaze. However, among the 20 patients, seven complained of diplopia in the secondary gaze (down gaze, four patients; head tilt gaze, three patients). The success group had a smaller preoperative subjective excyclotorsion than the partial and fail groups (12.6° ± 2.5° and 21.0° ± 8.9°, respectively; p = 0.046). CONCLUSIONS: Nonadjustable modified Harada-Ito surgery under general anesthesia has favorable success rate, and preoperative subjective excyclotorsion can be a prognostic factor in patients with bilateral superior oblique palsy.

Effect of refractive error type in the amblyopic eyes on factors for treatment success in anisometropic amblyopia.

To investigate the factors for treatment success in anisometropic amblyopia according to the spherical equivalent (SE) type of amblyopic eyes. Medical records of 397 children with anisometropic amblyopia aged 3 to 12 years who presented in a secondary referral eye hospital during 2010 ~ 2016 were retrospectively reviewed. Anisometropia was defined as ≥ 1 diopter (D) difference in SE, or ≥ 1.5 D difference of cylindrical error between the eyes. According to the SE of amblyopic eyes, patients were categorized into hyperopia (SE ≥ 1D), emmetropia (- 1 < SE < + 1) and myopia (SE ≤ - 1D) groups. Treatment success was defined as achieving interocular logMAR visual acuity difference < 0.2. Multivariate logistic regression was used to analyze the factors for treatment success. Significant factors for the amblyopia treatment success in hyperopia group (n = 270) were younger age [adjusted odds ratio (aOR) (95% confidence interval, CI) = 0.529 (0.353, 0.792)], better BCVA in amblyopic eyes at presentation [aOR (95% CI) 0.004 (0, 0.096)], longer follow-up period [aOR (95%CI) = 1.098 (1.036, 1.162)], and no previous amblyopia treatment history [aOR (95% CI) 0.059 (0.010, 0.364)]. In myopia group (n = 68), younger age [aOR (95% CI) 0.440 (0.208, 0.928)] and better BCVA in amblyopic eyes [aOR (95% CI) 0.034 (0.003, 0.469)] were associated with higher odds of treatment success. There was no significant factor for treatment success in emmetropia group (n = 59) in this population. The refractive error type of amblyopic eyes at presentation affects the factors for treatment success in anisometropic amblyopia.

Retinal Ganglion Cells-Diversity of Cell Types and Clinical Relevance.

Retinal ganglion cells (RGCs) are the bridging neurons that connect the retinal input to the visual processing centres within the central nervous system. There is a remarkable diversity of RGCs and the various subtypes have unique morphological features, distinct functions, and characteristic pathways linking the inner retina to the relevant brain areas. A number of psychophysical and electrophysiological tests have been refined to investigate this large and varied population of RGCs. Technological advances, such as high-resolution optical coherence tomography imaging, have provided additional tools to define the pattern of RGC involvement and the chronological sequence of events in both inherited and acquired optic neuropathies. The mechanistic insights gained from these studies, in particular the selective vulnerability and relative resilience of particular RGC subtypes, are of fundamental importance as they are directly relevant to the development of targeted therapies for these invariably progressive blinding diseases. This review provides a comprehensive description of the various types of RGCs, the developments in proposed methods of classification, and the current gaps in our knowledge of how these RGCs are differentially affected depending on the underlying aetiology. The synthesis of the current body of knowledge on the diversity of RGCs and the pathways that are potentially amenable to therapeutic modulation will hopefully lead to much needed effective treatments for patients with optic neuropathies.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular mechanisms contributing to visual impairment are still poorly characterized. We conducted a deep phenotyping study on a cohort of 22 individuals carrying pathogenic NR2F1 variants to document the neurodevelopmental and ophthalmological manifestations, in particular the structural and functional changes within the retina and the optic nerve, which have not been detailed previously. The visual impairment became apparent in early childhood with small and/or tilted hypoplastic optic nerves observed in 10 cases. High-resolution optical coherence tomography imaging confirmed significant loss of retinal ganglion cells with thinning of the ganglion cell layer, consistent with electrophysiological evidence of retinal ganglion cells dysfunction. Interestingly, for those individuals with available longitudinal ophthalmological data, there was no significant deterioration in visual function during the period of follow-up. Diffusion tensor imaging tractography studies showed defective connections and disorganization of the extracortical visual pathways. To further investigate how pathogenic NR2F1 variants impact on retinal and optic nerve development, we took advantage of an Nr2f1 mutant mouse disease model. Abnormal retinogenesis in early stages of development was observed in Nr2f1 mutant mice with decreased retinal ganglion cell density and disruption of retinal ganglion cell axonal guidance from the neural retina into the optic stalk, accounting for the development of optic nerve hypoplasia. The mutant mice showed significantly reduced visual acuity based on electrophysiological parameters with marked conduction delay and decreased amplitude of the recordings in the superficial layers of the visual cortex. The clinical observations in our study cohort, supported by the mouse data, suggest an early neurodevelopmental origin for the retinal and optic nerve head defects caused by NR2F1 pathogenic variants, resulting in congenital vision loss that seems to be non-progressive. We propose NR2F1 as a major gene that orchestrates early retinal and optic nerve head development, playing a key role in the maturation of the visual system.

Comparison study of the axial length measured using the new swept-source optical coherence tomography ANTERION and the partial coherence interferometry IOL Master.

PURPOSE: To compare a biometer using swept-source optical coherence tomography (SS-OCT) with a partial coherence interferometry (PCI)-based biometer in measurements of two ocular biometry parameters, i.e., the axial length and anterior cornea curvature. METHODS: We compared the two biometers SS-OCT (ANTERION, Heidelberg Engineering Inc., Heidelberg, Germany) and PCI (IOL Master, Carl Zeiss Meditec, Jena, Germany) in terms of the axial length (AL) and corneal curvature (K) measurements of 175 eyes. Paired t-tests were used to compare the two biometers. Agreement between the biometers was evaluated using the Bland-Altman method. RESULTS: The mean age was 36.0 ± 25.6 years (range: 5 to 85 years). The mean axial length was 24.42 ± 0.13 mm for SS-OCT and 24.45 ± 0.14 mm for PCI. The mean corneal curvature was significantly different between the two biometry in flat K (K1) but not in steep K (K2). The limit of agreement was -0.15 to 0.21 in the axial length, -1.18 to 0.83 in K1, and -1.06 to 0.95 in K2. All above ocular biometric measurements between SS-OCT and PCI correlated significantly (Pearson's correlation, p<0.001). CONCLUSIONS: The axial length measured using SS-OCT is useful in clinical practice. It shows a good correlation and agreement with that measured using PCI. However, the axial length and corneal curvature measured using SS-OCT cannot be used interchangeably with that measured using PCI in clinical practice.