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Infantile nystagmus syndrome (INS) consists of involuntary oscillation of the eyes, that usually develop within the first months of life. INS can be idiopathic or associated with albinism, retinal ...

We report the case of a 12-year-old girl, who presented with floaters and a white-to-cream peripheral retinal mass in her left eye. No intrinsic calcifications in B-scan ultrasonography and CT scan of the orbits were present and MRI showed a homogenously enhancing peripheral retinal mass with restricted diffusion. Due to close contact with puppies, the patient was initially treated for ocular toxocariasis. However, one month later she developed anterior chamber seeding and anterior chamber tap showed group E retinoblastoma (RB). This case underlines that RB may occur in older ages with atypical manifestations, such as uveitis and absence of calcifications.

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetically confirmed ACHM patients, 385 (36.3%) of these carrying "likely disease-causing" variants in CNGA3. Compiling our own genetic data with those reported in the literature and in public databases, we further extend the CNGA3 variant spectrum to a total of 316 variants, 244 of which we interpreted as "likely disease-causing" according to ACMG/AMP criteria. We report 48 novel "likely disease-causing" variants, 24 of which are missense substitutions underlining the predominant role of this mutation class in the CNGA3 variant spectrum. In addition, we provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to further advance the pathogenicity assessment of the identified variants.

Significant inter-individual variation in terms of susceptibility to several stress-related disorders, such as myocardial infarction and Alzheimer’s disease, and therapeutic response has been observed among healthy subjects. The molecular features responsible for this phenomenon have not been fully elucidated. Proteomics, in association with bioinformatics analysis, offer a comprehensive description of molecular phenotypes with clear links to human disease pathophysiology. The aim of this study was to conduct a comparative plasma proteomics analysis of glucocorticoid resistant and glucocorticoid sensitive healthy subjects and provide clues of the underlying physiological differences. For this purpose, 101 healthy volunteers were given a very low dose (0.25 mg) of dexamethasone at midnight, and were stratified into the 10% most glucocorticoid sensitive (S) (n = 11) and 10% most glucocorticoid resistant (R) (n = 11) according to the 08:00 h serum cortisol concentrations determined the following morning. One month following the very-low dose dexamethasone suppression test, DNA and plasma samples were collected from the 22 selected individuals. Sequencing analysis did not reveal any genetic defects in the human glucocorticoid receptor (NR3C1) gene. To investigate the proteomic profile of plasma samples, we used Liquid Chromatography-Mass Spectrometry (LC-MS/MS) and found 110 up-regulated and 66 down-regulated proteins in the S compared to the R group. The majority of the up-regulated proteins in the S group were implicated in platelet activation. To predict response to cortisol prior to administration, a random forest classifier was developed by using the proteomics data in order to distinguish S from R individuals. Apolipoprotein A4 (APOA4) and gelsolin (GSN) were the most important variables in the classification, and warrant further investigation. Our results indicate that a proteomics signature may differentiate the S from the R healthy subjects, and may be useful in clinical practice. In addition, it may provide clues of the underlying molecular mechanisms of the chronic stress-related diseases, including myocardial infarction and Alzheimer’s disease.

Purpose: To determine the efficacy of scleral buckling in eyes with stage 4A and 4B retinopathy of prematurity (ROP).Methods: Seven eyes of five premature infants underwent scleral buckling for stage 4 ROP in zone II. Five eyes had stage 4A ROP, and two eyes had stage 4B ROP. Six eyes had previous diode laser photocoagulation, and one eye had received an intravitreal ranibizumab injection. Scleral buckling was the procedure of choice due to lack of access to specialized pediatric vitrectomy instrumentation. Average age at surgery was 3.4 months. Postoperative anatomic retinal status, visual acuity outcome and refractive error were assessed. Results: The scleral buckle was removed on average 8 months after surgery. Retinal reattachment was achieved in all seven eyes. At final follow-up one eye had macular ectopia and disc dragging, one eye had a macular traction fold and two eyes had optic disc pallor. Average myopic error after buckle removal was -7.5 D.Conclusion: Scleral buckling can be performed safely and effectively in 4A and 4B stage ROP in critically-ill infants, when access to specialized pediatric vitrectomy instrumentation is limited. This surgical technique may provide adequate relief of vitreoretinal traction with improved visual potential.

Στόχος της διδακτορικής διατριβής υπήρξε η αναλυτική και λεπτομερής συγκριτική επισκόπηση του άρθρου 72 του ΚΠολΔ και του άρθρου 2900 του Codice Civile και η εξαγωγή χρήσιμων συμπερασμάτων από την ευρύτερη εφαρμογή του θεσμού στο ιταλικό δίκαιο, με αναζήτηση των σημείων εκείνων που η θεωρητική επεξεργασία και η Νομολογιακή εφαρμογή του ιταλικού θεσμού θα μπορούσε να αποτελέσει θετική επιρροή του δικαίου της γειτονικής χώρας στο ημέτερο, με επωφελείς συνέπειες στην πρακτική εφαρμογή του θεσμού στην Ελλάδα- που είναι ομολογουμένως περιορισμένη. Έγινε εκτενής αναζήτηση πιο περιορισμένη στην γαλλική και μεταφράστηκε στην ελληνική γλώσσα το σύνολο των ιταλικών πηγών. Ο θεσμός της πλαγιαστικής αγωγής, θεσμός μεταφυτευθείς τόσο στην ελληνική, όσο και στην ιταλική έννομη τάξη από το γαλλικό δίκαιο, αποσκοπεί στην πληρέστερη προστασία του δανειστή. Στο ιταλικό δίκαιο πρόβλεψη περί «πλαγιαστικής» αγωγής υπάρχει στο άρθρο 2900 του Αστικού Κώδικα.. Βάση και δικαιολογητικός λόγος της θέσπισής της από τον Νομοθέτη είναι η αρχή της περιουσιακής ευθύνης του οφειλέτη, που προβλέπεται στο άρθρο 2740 CC. Κατά κρατούσα γνώμη στη θεωρία και τη Νομολογία, η καθ’ υποκατάσταση αγωγή επιτελεί λειτουργία κυρίως εξασφαλιστική και συντηρητική. Κατά κρατούσα σήμερα γνώμη στην Ιταλική θεωρία και Νομολογία ο ασκών την καθ’ υποκατάσταση αγωγή, είναι από δικονομικής απόψεως δικονομικώς υποκαθιστών. Ο οφειλέτης πρέπει να κλητευθεί στην δίκη όπου ο δανειστής ασκεί τα δικαιώματά αυτού, χωρίς η «προσεπίκληση» αυτή να σημαίνει άσκηση μιας αυτόνομης αγωγής εναντίον του. Οι επιμέρους προϋποθέσεις που πρέπει σωρευτικά να συντρέχουν για την άσκηση της αγωγής είναι η ιδιότητα του δανειστή και η απόδειξη της ύπαρξης μιας αξίωσης περιουσιακού χαρακτήρα κατά του οφειλέτη (δικαιώματα και αγωγές με περιουσιακό χαρακτήρα είναι εκείνα που έχουν ουσία οικονομικά αποτιμήσιμη), να μην πρόκειται για δικαίωμα που από τη φύση του ή δυνάμει διάταξης ικανό να ασκηθεί μόνο από το δικαιούχο του, η αδράνεια του οφειλέτη, ο κίνδυνος επέλευσης ζημίας στα συμφέροντά του δανειστή από την αδράνεια αυτή (παρών και συγκεκριμένος) και ο αιτιώδης σύνδεσμος μεταξύ της αδρανούς συμπεριφοράς του οφειλέτη και του κινδύνου που επίκειται για τα συμφέροντα του δανειστή. Τα αποτελέσματα των πράξεων που πραγματοποιεί καθ’ υποκατάσταση ο δανειστής επέρχονται άμεσα και αποκλειστικά στην περιουσία του οφειλέτη, ενώ η ευθύνη του δανειστή για την παραβίαση του καθήκοντος επιμέλειας δεν είναι δυνατόν να αποκλειστείΟ θεσμός της πλαγιαστικής αγωγής εμφανίζει σοβαρά μειονεκτήματα, κυρίως αναγόμενα στις αναγκαίες δαπάνες και τον απαιτούμενο χρόνο για τις δικαστικές ενέργειες. Παρά την ιστορική καταγωγή του θεσμού της πλαγιαστικής αγωγής από το γαλλικό δίκαιο, ορισμένες πτυχές της καθ΄υποκατάσταση αγωγής του ιταλικού δικαίου, κρίνονται περισσότερο επιτυχημένες στην πράξη και θα μπορούσαν να δώσουν λύσεις στα δυσχερή από θεωρητικής και πρακτικής απόψεως προβλήματα του θεσμού και να συντελέσουν στην πρόσδωση σε αυτόν στοιχείων ευελιξίας και προσαρμοστικότητας στις χιλιάδες εκφάνσεις αξιώσεων και δικαιωμάτων που μπορεί να δημιουργήσει η ιδιωτική αυτονομία.

Introduction: Diabetic macular edema (DME), wet age-related macular degeneration (AMD) and macular edema due to central retinal vein occlusion (CRVO) are leading causes of vision loss, currently managed with anti-vascular endothelial growth factor injections (anti-VEGF). Aim of this study was to calculate QALYs in patients with DME, AMD and CRVO treated with anti-VEGF agents (QALYs+) in a Greek tertiary hospital setting and compare them to theoretical QALYs that the patients would have without treatment (QALYs-). Material and Methods: The study included 143 treatment-naive patients with macular edema due to DM (n=57), AMD (n=79) and CRVO (n=7), who received anti-VEGF injections as monotherapy according to the Treat-and-Extend (T&E) protocol. The anti-VEGF agents were ranibizumab and aflibercept in equivalent fractions. QALYs where calculated by the formula QALY = Utility Value * Time, where “time” refers to the follow-up period of the study. For QALYs-, we assumed that visual acuity remained unchanged during this period.Results: Mean follow-up time was 1+1.3 years in the DME group, 1.3 + 1.2 years in the AMD group and 0.5 +1 years in the CRVO group. For patients with DME, QALYs- were 0.75, and QALYs+ were 0.78 (QALY difference +0.033, p=0.439). For patients with AMD, QALYs- were 0.95 and QALYs+ were also 0.95 (QALY difference 0, p=0.45). QALYs- of patients with CRVO were 0.77, and QALYs+ were 0.80 (QALY difference +0.032, p=0.09).Discussion/Conclusion: QALYs+ were identical to QALYs- in patients with AMD and QALYs+ were minimally higher than QALYs- in patients with DME and CRVO in this specific Greek setting for a time horizon between 0.5 and 1.3 years. Possible explanations are the short time horizon used in this analysis and the inclusion of data from the better-seeing eye (BSE).

Neovascular age-related macular degeneration (nAMD), diabetic macular oedema (DME), and macular oedema due to central retinal vein occlusion (CRVO) are leading causes of vision loss, currently managed with anti-vascular endothelial growth factor injections (anti-VEGF). The aim of this study was to calculate QALYs in patients with nAMD, DME, and CRVO treated with anti-VEGF agents (QALYsThe study included 143 treatment-naive patients with macular oedema due to nAMD (n = 79), DME (n = 57), and CRVO (n = 7), who received anti-VEGF injections as monotherapy according to the Treat-and-Extend (TE) protocol. The anti-VEGF agents were ranibizumab and aflibercept in equivalent fractions. QALYs where calculated by the formula QALY = Utility Value × Time, where "Time" refers to the follow-up period of the study. For QALYsMean follow-up time was 1.3 ± 1.2 years in the nAMD group, 1 ± 1.3 years in the DME group, and 0.5 ± 1 years in the CRVO group. There was no statistically significant difference between QALYsPossible explanations for the lack of significant difference between QALYs - and QALYs + in nAMD, DME, and CRVO groups, may be the short time horizon used in this analysis, the inclusion of data from the better-seeing eye (BSE) and the specific socio-economic, geographical and health care characteristics of this rural Greek area.

Thermal microcautery is a novel minimally invasive intervention for migraine. We present a case series of twenty-one patients who underwent this technique. Nineteen patients reported improvement in migraine management. Of these four patients went on to complete remission and a further eleven patients reported over 50% improvement. In addition, the majority of patients noted reductions in intensity and duration of headache with a better response to medication. The efficacy of thermal microcautery generates a new hypothesis that attempts to explain how a neuromodulation technique may be helpful in the management of migraine.

Blepharospasm (BSP) is a sub-phenotype of focal dystonia. A few genetic risk factors are considered to be implicated in the risk of developing BSP. There is recent evidence, based on results from GWAS and meta-analyses, to suggest that arylsulfatase G (ARSG), and more specifically rs11655081, is implicated in focal dystonia. The aim of the present study was to evaluate the effect of rs11655081 ARSG on BSP. A Greek cohort, which consisted of 206 BSP patients and an equal number of healthy controls, was genotyped for rs11655081. Only a marginal trend for the association between rs11655081 and the risk of BSP was found in the over-dominant model of inheritance [odds ratio, OR (95% confidence interval, CI): 0.64 (0.38-1.07), p = 0.088]. It is rather unlikely that rs11655081 across ARSG is a major genetic risk contributor for BSP.

This prospective study investigates longitudinal changes in retinal structure in patients with achromatopsia (ACHM) using optical coherence tomography (OCT).Seventeen patients (five adults, 12 children) with genetically confirmed CNGA3- or CNGB3-associated ACHM underwent ocular examination and OCT over a follow-up period of between 2 and 9.33 years (mean = 5.7 years). Foveal tomograms were qualitatively graded and were segmented for quantitative analysis: central macular thickness (CMt), outer nuclear layer thickness (ONLt), and size of the foveal hyporeflective zone (vertical HRZ thickness: HRZt and horizontal HRZ width: HRZw) were measured. Data were analyzed using linear mixed regression models. Both age and visit were included into the models, to explore the possibility that the rate of disease progression depends on patient age.Fifteen of 17 patients (88%) showed longitudinal changes in retinal structure over the follow-up period. The most common patterns of progression was development of ellipsoid zone (EZ) disruption and HRZ. There was a significant increase in HRZt (P = 0.01) and HRZw (P = 0.001) between visits and no significant change in CMt and ONLt. Retinal parameters showed no difference in changes by genetic mutation (CNGA3 (n = 11), CNGB3 (n = 6)).This study demonstrates clear longitudinal changes in foveal structure mainly in children, but also in adults with ACHM, over a long follow-up period. The longitudinal foveal changes suggest that treatment at an earlier age should be favored.

Introduction: Super mini-percutaneous nephrolithotomy (PCNL) (SMP) has been described to be used for stones up to 2.5 cm in size, but is especially practical for stones unsuitable for extracorporea...

Introduction Aim of this study is to present the acute and long-term swept-source optical coherence tomography angiography findings in pediatric commotio retinae. Materials and methods Two children presented with reduced visual acuity and Berlin edema after blunt trauma. Results Swept-source optical coherence tomography revealed hyperreflectivity of the retinal nerve fiber layer and disruption of the ellipsoid zone and the retinal pigment epithelium. Swept-source optical coherence tomography angiography showed enlarged superficial foveal avascular zone in both cases. In the more severe case, there was enlargement of both superficial and deep foveal avascular zone, and reduction of the superficial vascular plexus density. Conclusion The present findings suggest that pediatric commotio retinae may be associated with retinal vascular changes, that is, foveal avascular zone enlargement and decreased vessel density. The extent of the microvascular alterations is possibly related to trauma severity.

AIM: To report the clinical characteristics and diagnostic procedures used in patients with spasm of the near reflex (SNR), in order to present common investigation strategies and diagnostic pitfalls. METHODS: Retrospective case series of twenty-two patients, mainly children, with SNR or accommodation spasm (AS). AS was diagnosed on the basis of blurred vision and a difference of >2 dioptres between manifest and cycloplegic retinoscopy. If esotropia and miosis were present, the patients were diagnosed with SNR. All patients underwent visual acuity testing, orthoptic evaluation, assessment of refraction before and after cycloplegia, and dilated fundoscopy. Additional diagnostic investigations, such as neuroimaging, lumbar puncture (LP), electrophysiology and blood tests, were also recorded. Screen use among children was assessed in hours per day. RESULTS: There were 19 female and 3 male patients (age range 7-33y, median=10y). Seventeen patients had AS and 5 patients had SNR, with episodic blurry vision and headaches being the most common symptoms. Brain neuroimaging was performed in six patients (27%), although only one had a history of brain trauma. Two of those patients underwent visual evoked potentials and three also underwent LP and received intravenous steroid therapy. The majority of patients (90%) reported prolonged daily screen time (>2h/d), and in 55% of cases there were concurrent social problems or psychological triggers. Treatment consisted of careful explanation of the condition, atropine 1% eye drops and full cycloplegic correction by means of bifocal glasses. CONCLUSION: The diagnosis of SNR and AS may be challenging, because symptoms are usually intermittent and nonspecific, and a large number of patients are often subjected to redundant and potentially time-consuming examinations and treatment, that may exaggerate the underlying psychological disorder. Hence, detailed clinical testing and assessment of psychosocial profile is necessary, in order to avoid unnecessary investigations. Neuroimaging should be performed only in selected cases. Finally, due to prolonged screen use SNR and AS may become more frequent in the future.

Normal foveal development begins in utero at midgestation with centrifugal displacement of inner retinal layers (IRLs) from the location of the incipient fovea. The outer retinal changes such as increase in cone cell bodies, cone elongation and packing mainly occur after birth and continue until 13 years of age. The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed foveal pit, extrusion of IRLs, thickened outer nuclear layer and long outer segments. Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with or without anterior segment dysgenesis without albinism (FHONDA) and optic nerve hypoplasia. In achromatopsia, there is disruption of the outer retinal layers with atypical FH. Similarly, in retinal dystrophies, there is abnormal lamination of the IRLs sometimes with persistent IRLs. Morphology of FH provides clues to diagnoses, and grading correlates to visual acuity. The outer segment thickness is a surrogate marker for cone density and in foveal hypoplasia this correlates strongly with visual acuity. In preverbal children grading FH can help predict future visual acuity.

A 12-year old girl presented with a 3-week history of floaters and blurry vision in her left eye (LE). The patient reported mild fever, loss of weight (2 kg) and contact with puppies. Visual acuity was 20/20 in her right eye (RE) and 20/30 in her LE. In the LE, there was anterior uveitis, vitritis and a white-to-cream peripheral retinal mass with intravitreal exudates (figure 1A). No calcifications in B-scan ultrasonography were found (figure 1B). MRI showed a …

ObjectiveTo investigate the morphology of the retina and optic nerve (ON) in microcephaly.MethodsThis was a prospective case-control study including 27 patients with microcephaly and 27 healthy controls. All participants underwent ophthalmologic examination and handheld optical coherence tomography (OCT) of the macula and ON head. The thickness of individual retinal layers was quantified at the foveal center and the parafovea (1,000 μm nasal and temporal to the fovea). For the ON head, disc diameter, cup diameter, cup-to-disc ratio, cup depth, horizontal rim diameter, rim area, peripapillary retinal thickness, and retinal nerve fiber layer thickness were measured.ResultsSeventy-eight percent of patients had ophthalmologic abnormalities, mainly nystagmus (56%) and strabismus (52%). OCT abnormalities were found in 85% of patients. OCT revealed disruption of the ellipsoid zone, persistent inner retinal layers, and irregular foveal pits. Parafoveal retinal thickness was significantly reduced in patients with microcephaly compared to controls, nasally (307 ± 44 vs 342 ± 19 μm, p = 0.001) and temporally (279 ± 56 vs 325 ± 16 μm, p < 0.001). There was thinning of the ganglion cell layer and the inner segments of the photoreceptors in microcephaly. Total peripapillary retinal thickness was smaller in patients with microcephaly compared to controls for both temporal (275 vs 318 μm, p < 0.001) and nasal sides (239 vs 268 μm, p = 0.013).ConclusionsRetinal and ON anomalies in microcephaly likely reflect retinal cell reduction and lamination alteration due to impaired neurogenic mitosis. OCT allows diagnosis and quantification of retinal and ON changes in microcephaly even if they are not detected on ophthalmoscopy.

Cerebral venous sinus thrombosis is a relatively rare type of stroke which can be complicated by intracerebral haemorrhage resulting often in poor prognosis. Antiphospholipid syndrome and systemic lupus erythematosus both have been associated with cerebral venous sinus thrombosis. Furthermore, a few cases combining heparin-induced thrombocytopenia with cerebral venous sinus thrombosis have been described in the literature. We present a 57-year-old female patient who was admitted reporting confusion and fever for 4 days. She was immobilized due to a thoracic vertebral fracture and received enoxaparin as a prophylaxis for deep venous thrombosis. A computed tomography scan demonstrated extensive cerebral venous sinus thrombosis and two ipsilateral haemorrhagic infarcts. Moreover, the patient was serum-positive for heparininduced thrombocytopenia antibodies and had persistent fever. A thorough immunological and serological investigation turned out consistent with antiphospholipid syndrome with possible systemic lupus erythematosus. The patient was treated accordingly and was finally discharged one month later, afebrile, with mild neurological deficits.

Subperiosteal orbital hemorrhage in the postpartum period has been rarely reported. The authors herein present a female patient who developed acute-onset vertical diplopia, proptosis, mild retro-orbital pain, and restriction of upgaze immediately after labor. Neuroimaging revealed a subperiosteal hematoma along the right orbital roof. Diplopia, motility limitation, and retro-orbital pain gradually resolved in the following weeks. Subperiosteal orbital hematomas are a rare complication of labor, with only 12 cases reported so far. They result from straining during labor, which increases central and orbital venous pressure by means of the Valsalva-maneuver. In order to evaluate ocular motility and exclude optic nerve compression, an urgent ophthalmological examination is required.

Sir,Sildenafil in recommended doses has been rarely associated with a blue tinge to vision, light sensitivity, or more severe pathology, such as nonarteritic anterior ischemic optic neuropathy (AIO...

Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The CYP1A2 rs762551 and ADORA2A rs5760423 variants have been previously marginally associated with the risk of PD and are also implicated in caffeine metabolism pathways. The aim of the present study was to evaluate the effect of the CYP1A2 rs762551 and ADORA2A rs5760423 variants on BSP. A Southeastern European Caucasian (SEC) cohort of 206 BSP patients and 206 healthy controls was genotyped for rs762551 and rs5760423. CYP1A2 rs762551 was associated with a decreased BSP risk in the dominant (OR (95% CI) 0.62 (0.41–0.92), p = 0.017), log-additive (OR (95% CI) 0.68 (0.51–0.92), p = 0.011), and co-dominant modes (for the CC genotype OR (95% CI) 0.49 (0.25–0.93), p = 0.038). We provide preliminary evidence that CYP1A2 rs762551 is associated with BSP. Further studies and replication of our results are needed.

A wide spectrum of anterior and posterior segment ophthalmic injuries has been described secondary to instrumental vaginal deliveries, which may be self-limiting or cause a significant long-term vi...

A 14-year-old girl presented with a left upper eyelid diffuse swelling and an ipsilateral pseudoptosis (figure 1A). She had been referred by a general practitioner as an urgent case of orbital cellulitis. She had already received 2 days of treatment with oral clindamycin without improvement in symptoms. The patient’s general medical history was unremarkable. Her family owned two dogs and she had been bitten by them several times during playing. Nasal endoscopy was performed. No purulent secretions were found in the middle meatus. MRI showed a …

Purpose The purpose of this study was to prospectively investigate the association between retinopathy of prematurity (ROP) and ocular growth in premature infants during the earliest weeks of life. Methods Premature infants in the national ROP screening program were recruited and examined at 1- or 2-week intervals between 30 and 38 weeks of postmenstrual age. One hundred infants with gestational age (GA) between 24 and 35 weeks (30.04 + 2.13), and birth weight (BW) between 550 and 2060 g (1251.45 + 317.19) were included in the study. At each examination, the presence, stage, and zone of ROP were recorded along with axial length (AL), central corneal thickness (CCT), and weight gain. Biometric parameters were measured by A-scan biometry. Study variables included GA, BW, AL, CCT, weight gain, relative weight (RW), and dif_AL, dif_CCT, and dif_weight, which are the differences between two consecutive recordings of the same infant. Multiple regression analysis models were used to determine the association between the study variables and ROP. Results dif_AL, dif_CCT, and RW were the most appropriate variables to detect the optimal threshold points that discriminate ROP: weekly increase of AL < 0.095 mm, weekly reduction of CCT < 0.5 μm, or weekly weight gain < 7% is associated with ROP development. Conclusions ROP is associated with delayed ocular development, as eyes of premature infants with ROP have shorter axial lengths and thicker corneas than eyes of premature infants without ROP. The association of AL, CCT, and weight gain with ROP could be of value for future development of predictive models for ROP.

The vas deferens and spermatic vessels entering the inguinal canal through the internal inguinal ring is thought to exclude an intra-abdominal testis. We present a case of high bilateral intra-abdominal testes on a 46,XY boy despite the vas deferens and good-sized vessels passing through the deep rings.Data were collected from clinical records, radiology (ultrasound, magnetic resonance imaging [MRI]), and endocrine blood tests.This case underlines the importance of following the pathway of embryological descent of the testis cranially as well as caudally during diagnostic laparoscopy, to avoid missing this rare anatomical variant.

Purpose To determine feasibility of optic nerve head (ONH) imaging and to characterize ONH development in full-term infants without sedation using handheld spectral-domain optical coherence tomography (SD OCT). Design Prospective cross-sectional study. Participants Three hundred fifty-two children aged between 1 day and 13 years. Methods All participants were imaged using handheld SD OCT without sedation during a single scan session. The percentage of successful scans was calculated. Interexaminer reproducibility and differences between right and left eyes were assessed using intraclass correlation coefficients (ICCs). Images were analyzed using ImageJ software. The developmental trajectories over time for ONH parameters were calculated using fractional polynomial modelling. Main Outcome Measures Disc and cup diameter (expressed as distance in micrometers and visual angle in degrees), cup depth, Bruch's membrane opening–minimum rim width (BMO-MRW), retinal thickness, and retinal nerve fiber layer (RNFL; 1700 μm and 6° from the disc center). Results On average, 70% of participants were imaged successfully. Interexaminer reliability was excellent (ICC, >0.89) for diametric and retinal thickness parameters. Right and left eyes were similar for diametric measurements (ICC, >0.79), but more variable for nasal BMO-MRW, RNFL, and retinal thickness. The mean disc and cup diameter increase by 30% and 40%, respectively, between birth and 13 years of age when expressed as a distance measure, but remained constant (at 5°–5.5° and 2°, respectively) when expressed as a visual angle with reference to the eye nodal point. The peripapillary temporal RNFL demonstrated a marked initial decrease of nearly 35% between birth and approximately 18 months of age. This was followed by a slow increase up to 12 years of age when measured at 1700 μm from the disc center, although there was little change when measured at 6° from the disc center. Conclusions We demonstrated feasibility of handheld SD OCT imaging of the ONH in full-term infants and children without anaesthesia or sedation. This is the first in vivo handheld SD OCT study to describe the development of ONH parameters during the critical early years of visual maturation. Our results provide a normative database for use in routine practice and further studies of ONH pathologic features.

A 71-year-old woman with a history of psoriatic arthritis on methotrexate presented with a 1 week history of dizziness, imbalance and blurry vision, followed by diarrhoea and fever. Neurological examination revealed bilateral upper limb tremor and dysmetria, occasional multifocal myoclonus, inability to rise or stand and altered mental status. She also showed jerks of rapid, involuntary, multivectorial eye movements (online supplementary video), consistent with opsoclonus-myoclonus …

Objectives Pott's puffy tumor (PTT) is a frontal subperiosteal abscess associated with underlying frontal osteomyelitis. The purpose of the present study was to assess the rate of intracranial involvement in pediatric and adolescent patients with PPT and to discuss the diagnostic workup and the therapeutic features of this pathology. Methods We searched Web of Science, PubMed and MEDLINE from 1998 to 2018. The search focused on papers concerning the diagnostic procedure and therapeutic management of PTT. Statistical techniques were not used. Results We included 53 articles that described 92 pediatric and adolescent patients with PPT. The overall rate of intracranial complications was found to be 72%. Most authors used computed tomography for the diagnosis of PTT and its complications, either alone or in combination with magnetic resonance imaging. In 50% of cases, an endoscopic endonasal approach is used for the management of the underlying acute or chronic sinusitis. Conclusions On the basis of the available literature, it seems that the incidence rate of intracranial involvement in patients with PPT is quite high. Early diagnosis using the appropriate imaging raise the possibility of good recovery. Concerning the therapy of PTT, endoscopic sinus surgery could be considered as a valuable technique. The vast majority of patients treated appropriately recover without long-term neurologic complications and sequelae. Level of evidence 4 Laryngoscope, 130:225-231, 2020.

Significance Bilateral strokes are rare and should be considered when patients present with bilateral visual field loss characterized by patterns consistent with right and left-sided homonymous visual field defects. Perimetry, dilated funduscopy, and immediate neuroimaging are mandatory for diagnosis, because patients may present with vague symptoms. These cases reflect the retinotopic features of the striate cortex. Purpose The purposes of this study were to describe the unusual presentation of bilateral homonymous visual field defects in three patients with bilateral ischemic strokes and to discuss the clinical and neuroanatomical correlations. Case reports Neuro-ophthalmological examination including perimetry and brain magnetic resonance imaging (MRI) was performed in three patients with bilateral homonymous scotomas. Two of three patients presented with superior altitudinal hemianopia, resulting from right and left homonymous superior quadrantanopia due to bilateral occipital strokes below the calcarine fissure. A 57-year-old man (patient 1) with a history of atrial fibrillation presented with driving difficulties. Perimetry revealed bilateral superior altitudinal hemianopia. Brain MRI demonstrated a subacute right occipital stroke and a chronic left occipital stroke, both inferior to the calcarine fissure. An 83-year-old woman (patient 2) presented with reading disorders. Perimetry showed a left incomplete homonymous hemianopia and a right horizontal wedge-shaped homonymous scotoma. Brain MRI showed a chronic ischemic stroke in the left occipital lobe and acute ischemia in the right thalamus. A 40-year-old man (patient 3) was referred with headache, disorientation, and bilateral blurry vision. Perimetry showed bilateral superior altitudinal hemianopia, and MRI demonstrated acute bilateral occipital ischemia. Patients 1 and 2 suffered sequential bilateral strokes and were not aware of the initial scotoma, whereas patient 3 presented with bilateral concurrent strokes. Conclusions Bilateral homonymous visual field defects due to bilateral strokes are rare. Patient history, a careful neuro-ophthalmological examination, and correlation of visual field defect patterns with neuroimaging should prompt the clinician to the presence of this unique entity.

The purpose of this review is to provide an update on current management and recent research for amblyopia treatment. Part I will review patching, atropine penalization, and pharmacological treatments. Part II will focus on perceptual learning, video gaming, and binocular dichoptic approaches. A literature search was performed in PubMed, ClinicalTrials.gov , Google Scholar, and reference lists of retrieved articles until December 20, 2018, for all papers containing “amblyopia treatment” or “amblyopia therapy.” We have included RCTs, prospective observational studies, prospective and retrospective cohort studies, pilot studies, and review articles. The mainstay of treatment for amblyopia has been based on increasing visual stimulation of the amblyopic eye by occlusion, atropine, or optical penalization of the dominant eye. It has been established that refractive adaptation alone can significantly enhance visual acuity. However, the duration of optical correction varies between studies and the effectiveness of spectacle wear over early beginning of patching is still under investigation. Additionally, by means of occlusion dose monitors, it was found that adherence to occlusion affects the outcome, as a dose-response relationship exists between adherence and visual acuity. Treatment efficiency declines with age; however, recent evidence indicates cortical plasticity beyond the “critical period” and recommends that an attempt at treatment should be offered to all amblyopic children regardless of age, including those in later childhood. Novel approaches targeted to the restoration of binocular functions, such as perceptual learning, video gaming, and dichoptic training, have shown small effects on visual acuity and have failed to demonstrate non-inferiority over standard treatments. On review, significant evidence for the successful management of amblyopia, with occlusion therapy and atropine, has been found. However, the management of amblyopia remains challenging, mainly due to compliance issues and suboptimal treatment outcomes during occlusion and atropine penalization. Recent studies have found evidence of new ways of treating amblyopia particularly in regard to binocular treatment although these remain under investigation. Further robust clinical trials on these new treatment modalities are still warranted in order to establish their role in treating amblyopia.

On-road testing is considered the standard for assessment of driving performance; however, it lacks standardization. In contrast, driving simulators provide controlled experimental settings in a virtual reality environment. This study compares both testing conditions in patients with binocular visual field defects due to bilateral glaucomatous optic neuropathy or due to retro-chiasmal visual pathway lesions. Ten glaucoma patients (PG), ten patients with homonymous visual field defects (PH), and 20 age- and gender-matched ophthalmologically normal control subjects (CG and CH, respectively) participated in a 40-min on-road driving task using a dual brake vehicle. A subset of this sample (8 PG, 8 PH, 8 CG, and 7 CH) underwent a subsequent driving simulator test of similar duration. For both settings, pass/fail rates were assessed by a masked driving instructor. For on-road driving, hemianopia patients (PH) and glaucoma patients (PG) showed worse performance than their controls (CH and CG groups): PH 40%, CH 30%, PG 60%, CG 0%, failure rate. Similar results were obtained for the driving simulator test: PH 50%, CH 29%, PG 38%, CG 0%, failure rate. Twenty-four out of 31 participants (77%) showed concordant results with regard to pass/fail under both test conditions (p > 0.05; McNemar test). Driving simulator testing leads to results comparable to on-road driving, in terms of pass/fail rates in subjects with binocular (glaucomatous or retro-chiasmal lesion-induced) visual field defects. Driving simulator testing seems to be a well-standardized method, appropriate for assessment of driving performance in individuals with binocular visual field loss.

A 65-year-old man with a history of hypertension presented with double vision. Examination revealed wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) (figure 1) and nonsymptomatic, pulse-synchronous, pulsatile proptosis of the left eye (video, [links.lww.com/WNL/A389][1]). According to the patient, there was a history of blunt head trauma in childhood and the pulsatile eye was present since then. CT revealed a meningocele into the left orbit due to a bony defect in the orbital roof (figure 2A). CT angiography ruled out a carotid-cavernous fistula. MRI showed an acute infarction at the midline of the midbrain tegmentum, which involved the medial longitudinal fasciculus bilaterally and caused the WEBINO (figure 2B).1 The pulsatile proptosis was attributed to the childhood head injury and due to the orbital roof fracture and associated meningocele pulsation of the brain vessels passed onto the CSF.2 [1]: http://links.lww.com/WNL/A389