ABSTRACT
BACKGROUND: Germline mutations in cancer susceptibility genes were identified in pancreatic cancer (PanC) patients with a sporadic disease and in those unselected for family cancer history. METHODS: With the aim to determine the prevalence of germline predisposition genes mutations in PanC, and to evaluate whether they were associated with the presence of PanC, we profiled a custom AmpliSeq panel of 27 cancer susceptibility genes in 47 PanC patients and 51 control subjects by using the Ion Torrent PGM system. RESULTS: Multigene panel testing identified a total of 31 variants in 27 PanC (57.4%), including variants with pathogenic/likely pathogenic effect, those of uncertain significance, and variants whose clinical significance remains currently undefined. Five patients carried more than one variant in the same gene or in different genes. Eight patients (17.0%) had at least one pathogenic/likely pathogenic variant in four main genes: CFTR (10.6%), BRCA2 (8.5%), ATM and CHEK2 (2.1%). Pathogenic/likely pathogenic mutation were identified in patients with positive PanC family history (20%) or in patients without first-degree relatives affected by PanC (13.6%). All the BRCA2 mutation carriers were unselected PanC patients. The presence of mutations in BRCA2 was significantly associated with an increased occurrence of PanC and with positive family history for endometrial cancer (p = 0.018). CONCLUSIONS: This study confirmed the potential remarkable contribution of BRCA2 in assessing the presence of PanC. Overall our findings supported the recommendation of offering the germline testing to all the PanC patients with the intent to reduce the number of underdiagnosed carriers of mutations in predisposition genes, and not to preclude their relatives from the opportunity to benefit from surveillance programs.
Subject(s)
Germ-Line Mutation , Pancreatic Neoplasms , Humans , Genetic Predisposition to Disease , Mutation , Pancreatic Neoplasms/genetics , Pancreatic NeoplasmsABSTRACT
BACKGROUND: Eye examinations for ROP screening in preterm newborns are characterized by two main problems: infection control and poor tear secretion. Therefore, in order to reduce the risk of ocular infection and to protect the ocular surface, netilmicin eye drops are usually used after the exams. The purpose of our study was to evaluate the safety and tolerability of ozonated-oils eyedrops during the eye examination of preterm babies in the screening for ROP, sparing the use of antibiotics eyedrops. METHODS: All newborn infants that needed to be screened for ROP were divided into two groups: in group A we used topical netilmicin eye drops and in group B ozonated-oils eyedrops. We looked for any sign of conjunctival injection and chemosis, infectious conjunctivitis, blepharoconjunctivitis, erythema, and edema of the eyelids. RESULTS: A total of 162 adverse effects out of 3546 examinations (4,5%) were reported acutely: in group A (1778 examinations), they consisted of 47 reactive conjunctivitis, 3 cases of blepharoconjunctivitis, 30 of eyelids swelling, and 3 infectious conjunctivitis, compared to 39 cases of conjunctival injection, 3 blepharoconjunctivitis, 33 eyelids swelling and 4 infectious conjunctivitis in group B (1768 examinations). No significant differences were found in the comparison of the two groups. CONCLUSIONS: Ozonated-oils eyedrops should be considered a valid and safe alternative for the lubrification of the ocular surface and an adjuvant strategy to further minimize the risk of microbial contamination during screening for ROP.
Subject(s)
Conjunctivitis , Liposomes , Infant , Humans , Infant, Newborn , Ophthalmic Solutions/adverse effects , Netilmicin , Conjunctivitis/chemically induced , OilsABSTRACT
PURPOSE: To compare retinal vessel density before and after strabismus surgery using swept-source optical coherence tomography angiography (SS-OCTA). METHODS: In this longitudinal, single-arm pilot study, vascular density in the deep capillary plexus (DCP), superficial retinal capillary plexus (SCP) and choriocapillaris layer (CCL) in consecutive subjects undergoing strabismus surgery was assessed using SS-OCTA preoperatively (T0), on the first day postoperatively (POD1), and 30 days postoperatively (POD30). RESULTS: A total of 92 eyes of 56 patients (54% males) were included. Mean patient age was 41.1 ± 22.7. OCT vascular density of the DCP was 50.20 ± 5.57 at T0, 52.74 ± 4.77 at POD1, and 50.92 ± 4.58 at POD30. The differences were statistically significant for T0 versus POD1 (P < 0.05). Vascular density of the CCL was 50.72 ± 4.80 at T0, 53.59 ± 3.65 at POD1, and 51.39 ± 4.64 at POD30. The differences were statistically significant for T0 versus POD1 (P < 0.05). No significant differences were found in SCP (P > 0.05). CONCLUSIONS: Transitory hemodynamic changes can occur in the DCP and in the CCL following muscle recession procedures.
Subject(s)
Strabismus , Tomography, Optical Coherence , Female , Fluorescein Angiography/methods , Humans , Male , Pilot Projects , Retinal Vessels/diagnostic imaging , Strabismus/surgery , Tomography, Optical Coherence/methodsABSTRACT
PURPOSE: Inferior oblique muscle overaction (IOOA) is an ocular motility anomaly consisting of overelevation in adduction, often associated with ipsilateral hypertropia. The weakening procedure of IO muscle is the most widely used procedure in IOOA. Usually, surgical planning is based on the degree of overaction of the IO muscle. MATERIALS AND METHODS: We have retrospectively analyzed patients with bilateral IOOA with and without hypertropia in primary position, who underwent a bilateral IO weakening procedure. Both the amount of IOOA and the presence of a hypertropia in primary position were taken into consideration for the surgical plan. RESULTS: Nineteen patients met the entry criteria for this study. In 12 patients, a hypertropia in primary position was present at baseline, and it was significantly lower after the asymmetrical IO weakening: 11 had an asymmetric IOOA at baseline, and one had symmetric IOOA. None of the remaining seven patients had a vertical deviation in primary position before surgery, despite having asymmetric IOOA. None of them developed a hypertropia in primary position after symmetric IO weakening. CONCLUSIONS: Our findings outline the utility of considering both the presence of a vertical deviation in primary position and the magnitude of IOOA in this set of patients. Asymmetric inferior oblique weakening procedure is effective in treating a hypertropia in the primary position and bilateral IOOA.
Subject(s)
Oculomotor Muscles , Strabismus , Humans , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures , Retrospective Studies , Strabismus/surgery , Treatment Outcome , Vision, BinocularABSTRACT
Pulled-in-two syndrome (PITS) is a serious intraoperative complication of strabismus surgery in which an extraocular muscle manipulated during the procedure is ruptured and potentially lost. Usually, there is a systemic or local condition that determines muscle weakness when put under tension. If the proximal portion of the broken muscle can be found, it can be reattached to the ocular globe or remaining muscle. If this is not possible, there are multiple varying approaches. We present three cases of PITS of the inferior rectus muscle, treated with good results with anterior and nasal transposition of the inferior oblique muscle. We propose this surgery as another potential technique if the muscle can not be retrieved.
Subject(s)
Oculomotor Muscles , Strabismus , Humans , Intraoperative Complications , Nose , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures , Rupture , Strabismus/etiology , Strabismus/surgeryABSTRACT
PURPOSE: Retinopathy of prematurity (ROP) is the leading cause of childhood blindness. The aim of our study is to validate the new screening criteria elaborated by the Postnatal Growth and Retinopathy of Prematurity (G-ROP) study group in a monocentric cohort of Italian preterm infants. METHODS: We retrospectively applied the G-ROP screening criteria to a cohort of preterm infants born between May 2015 and July 2020 with known birth weight, gestational age, serial weight measurement, and known ROP outcome. Primary outcomes were sensitivity and specificity of ROP detection, especially of treatment requiring ROP. Secondary outcomes were reduction of ophthalmologic examinations and of infants requiring screening. RESULTS: We retrospectively evaluated 595 children and 475 were included in our study. Of them, 119 developed any type ROP, 39 developed type 1 ROP, and 28 underwent treatment. G-ROP criteria predicted 39 of 39 cases of type 1 ROP (100% sensitivity and specificity). Sensitivity and specificity for detection of treated ROP were 100%. Considering any type ROP detection, sensitivity was 87.4% and specificity was 100%. Our analysis showed that screening could be avoided in 50% of patients, resulting in a 29% reduction of the number of examinations. CONCLUSIONS: Our study validates the new G-ROP screening protocol in a monocentric cohort of premature infants. We demonstrate that all Type 1 ROP and requiring treatment ROP could be found even with a reduction of eye examinations.
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BACKGROUND: Fluorescence-guided visualization is a recently proposed technology in colorectal surgery. Possible uses include evaluating perfusion, navigating lymph nodes and searching for hepatic metastases and peritoneal spread. Despite the absence of high-level evidence, this technique has gained considerable popularity among colorectal surgeons due to its significant reliability, safety, ease of use and relatively low cost. However, the actual use of this technique in daily clinical practice has not been reported to date. METHODS: This survey was conducted on April 2020 among 44 centers dealing with colorectal diseases and participating in the Italian ColoRectal Anastomotic Leakage (iCral) study group. Surgeons were approximately equally divided based on geographical criteria from multiple Italian regions, with a large proportion based in public (89.1%) and nonacademic (75.7%) centers. They were invited to answer an online survey to snapshot their current behaviors regarding the use of fluorescence-guided visualization in colorectal surgery. Questions regarding technological availability, indications and techniques, personal approaches and feelings were collected in a 23-item questionnaire. RESULTS: Questionnaire replies were received from 37 institutions and partially answered by 8, as this latter group of centers do not implement fluorescence technology (21.6%). Out of the remaining 29 centers (78,4%), fluorescence is utilized in all laparoscopic colorectal resections by 72.4% of surgeons and only for selected cases by the remaining 27.6%, while 62.1% of respondents do not use fluorescence in open surgery (unless the perfusion is macroscopically uncertain with the naked eye, in which case 41.4% of them do). The survey also suggests that there is no agreement on dilution, dosing and timing, as many different practices are adopted based on personal judgment. Only approximately half of the surgeons reported a reduced leak rate with fluorescence perfusion assessment, but 65.5% of them strongly believe that this technique will become a minimum requirement for colorectal surgery in the future. CONCLUSION: The survey confirms that fluorescence is becoming a widely used technique in colorectal surgery. However, both the indications and methods still vary considerably; furthermore, the surgeons' perceptions of the results are insufficient to consider this technology essential. This survey emphasizes the need for further research to reach recommendations based on solid scientific evidence.
Subject(s)
Colorectal Neoplasms , Colorectal Surgery , Colorectal Neoplasms/diagnostic imaging , Colorectal Neoplasms/surgery , Colorectal Surgery/methods , Humans , Indocyanine Green , Italy , Optical ImagingABSTRACT
Residual amblyopia is seen in 40% of amblyopic patients treated with part-time patching. Amblyopic patients with infantile onset strabismus or anisometropia can develop fusion maldevelopment nystagmus syndrome (FMNS). The purpose of this study was to understand the effects of presence of FMNS and clinical subtype of amblyopia on visual acuity and stereo-acuity improvement in children treated with part-time patching. Forty amblyopic children who had fixation eye movement recordings and at least 12 months of follow-up after initiating part-time patching were included. We classified amblyopic subjects per the fixational eye movements characteristics into those without any nystagmus, those with FMNS and patients with nystagmus without any structural anomalies that do not meet the criteria of FMNS or idiopathic infantile nystagmus. We also classified the patients per the clinical type of amblyopia. Patching was continued until amblyopia was resolved or no visual acuity improvement was noted at two consecutive visits. Children with anisometropic amblyopia and without FMNS have a faster improvement and plateaued sooner. Regression was only seen in patients with strabismic/mixed amblyopia particularly those with FMNS. Patients with FMNS had improvement in visual acuity but poor stereopsis with part-time patching and required longer duration of treatment.
Subject(s)
Depth Perception/physiology , Eye Movements/physiology , Ocular Motility Disorders/therapy , Visual Acuity/physiology , Amblyopia/therapy , Anisometropia/therapy , Child , Child, Preschool , Female , Humans , Male , Nystagmus, Pathologic/therapy , Strabismus/therapy , Time Factors , Treatment OutcomeABSTRACT
INTRODUCTION: Fundus photography is the gold standard for assessing ocular torsion over the last 30 years. However, it is not a precise and reproducible tool during clinical practice. Optical coherence tomography angiography is characterized by precise identification of the macula and the optic disc, and it could be an effective method to easily calculate the angle of ocular torsion, compared to fundus photography. The aim of this study was to show whether any difference in the measurement and the accuracy of the angle of torsion between the head of the optic nerve and the fovea was present. METHODS: This is a prospective single-, referral-center study conducted at the San Giuseppe Hospital in Milan on 80 eyes of 40 adult patients, included in a random-sample way. Exclusion criteria were non-cooperation, higher refractive errors of ±3 diopters, retinal and optic disc pathologies, and ocular movement disorders. RESULTS: Patients' mean age was 54.3 ± 16.3 (range: 22-83) years. The angle measured by the fundus camera was 7.78° ± 3.04°, while the angle measured by the angiography was 7.09° ± 3.08° (p = .035). The mean interocular difference was 1.54° ± 3.42° for fundus photography and 0.5° ± 4.71° for angiography (p = .013). CONCLUSION: Optical coherence tomography angiography is a very useful, fast, precise, reproducible, and reliable technique in cooperative subjects, not inferior to the fundus camera and less prone to human error.
Subject(s)
Fluorescein Angiography , Fovea Centralis/pathology , Ocular Motility Disorders/diagnosis , Optic Disk/pathology , Tomography, Optical Coherence , Adult , Aged , Aged, 80 and over , Diagnostic Techniques, Ophthalmological , Female , Humans , Male , Middle Aged , Prospective Studies , Young AdultABSTRACT
INTRODUCTION: The aim was to evaluate the effectiveness of the procedure of the superior oblique split Z-tendon lengthening to collapse A pattern and treat face turn in a cohort of patients with both incomitant intermittent exotropia and a vertical deviation associated with a bilateral asymmetric superior oblique overaction. METHODS: We retrospectively reviewed the clinical records of patients with facial turn associated with intermittent exotropia and bilateral asymmetric superior oblique overaction, who underwent superior oblique muscle split tendon lengthening and concurrent horizontal surgery between 2009 and 2017. RESULTS: A total of eight patients met the inclusion criteria. The preoperative average face turn was 26.8° (range, 20°-5°), and it significantly improved to 5.4° (range, 2°-8°) (p < 0.05). All the patients showed an improvement in the face turn with neutralization of the vertical deviation. The vertical deviation in the right gaze for the patient with a right turn and the left gaze in patients with left turn improved significantly (values of p < 0.05). CONCLUSION: The superior oblique split Z-tendon lengthening was an effective procedure to collapse the A pattern and the treatment of the face turn in a cohort of patients with both incomitant intermittent exotropia and a vertical deviation associated with a bilateral asymmetric superior oblique muscle overaction with less complications, and less varying results.
Subject(s)
Exotropia/surgery , Eye Movements/physiology , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures/methods , Tendons/surgery , Child , Exotropia/physiopathology , Female , Humans , Male , Oculomotor Muscles/physiopathology , Retrospective StudiesABSTRACT
INTRODUCTION: To investigate how a subset of patients with partially accommodative esotropia, with a manifest deviation <10 Prism Diopters (PD) at distance and an angle of strabismus at near wider than 10 PD, could respond to a surgical approach based on the misalignment at near. METHODS: Six patients examined from 2015 to 2019 met criteria for inclusion: partially accommodative esotropia, patients compliant to full correction for at least 6 months, angle of esotropia for near larger at least 10 PD, angle of misalignment obtained with the alternate prism cover test and simultaneous prism cover test at distance <10 PD. All patients underwent bilateral medial recti recession. They were examined at 3 weeks and at 6 months. RESULTS: No significant difference in the angle of esotropia at distance was found at any follow-up (Baseline: 7.17 ± 1.33 PD vs 3 weeks: 7.0 ± 1.01 PD vs 6 months: 7.33 ± 1.03 PD, p = 0.65, and p = 0.36, respectively). No case of consecutive exotropia was described. Considering the angle at near, there was a significant reduction at 3 weeks (Baseline: 41.7 ± 6.83 PD vs 3 weeks: 9.33 ± 1.63 PD, p = 0.027), that remained stable at the final follow-up (9.0 ± 1.1 PD, p = 0.32). All patients were suppressors and had nil stereopsis pre-operatively, all of them developed fusion and a different degree of stereopsis [276 ± 284 arcseconds (Range 80-800)]. CONCLUSIONS: A surgical approach based on the angle of strabismus for near could obtain satisfactory ocular alignment without consecutive exotropia in children with partially accommodative esotropia wearing full refractive correction, with a manifest deviation for distance <10 PD and a higher misalignment for near, at least for 6 months after surgery.
Subject(s)
Esotropia , Exotropia , Child , Esotropia/surgery , Exotropia/surgery , Humans , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures , Retrospective Studies , Treatment Outcome , Vision, BinocularABSTRACT
INTRODUCTION: After vertical recti transposition surgery, a torsional change may occur. We hypothesized that step-by-step monitoring of the intraoperative torsional position of the eye can avoid any unexpected complications and identify critical moments of surgery that may have adverse effects. METHODS: Nine patients with sixth nerve palsy that underwent complete transposition of the superior (SR) and inferior rectus (IR) muscles to the lateral rectus muscle by means of the technique of augmented vertical recti transposition were prospectively included. The torsional position of the eye was recorded at eight stages of the procedure. RESULTS: We observed two distinct patterns of induced torsional deviation during partial disinsertion of a vertical rectus muscle depending on whether disinsertion began medially or laterally, after cutting about 3/4 of the muscle fibers: ¾ nasal disinsertion of the SR and ¾ temporal disinserton of the IR caused intorsion, ¾ temporal disinsertion of the SR and ¾ nasal disinsertion of the IR caused extorsion. Torsion improved after the vertical rectus was attached temporally to the sclera along the spiral of Tillaux with tying of the augmentation suture to the LR. The greatest change in torsion was from ¾ temporal disinsertion of the SR (5°extorsion), to reattachment along the spiral of Tillaux temporally (5°intorsion). CONCLUSION: The SR and IR have different torsional effects, which only appears when more than half of the fibers are detached. Augmented transposition does not cause any additional torsional effects. This intraoperative monitoring system can be used to detect unintended torsional complications, especially during transposition surgery.
Subject(s)
Abducens Nerve Diseases , Strabismus , Humans , Monitoring, Intraoperative , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures , Strabismus/etiology , Strabismus/surgery , SuturesABSTRACT
PURPOSE: We investigated how the abnormalities of fixation eye movements (FEMs) of the amblyopic eye were linked with treatment outcomes following part-time patching therapy in children with amblyopia. METHODS: We recruited 53 patients, with at least 12 months of patching, and measured FEMs at the end of treatment. Subjects were classified based on FEM waveforms (those without nystagmus = 21, those with nystagmus without fusion maldevelopment nystagmus (FMN) = 21, and those with FMN = 11) and based on clinical type of amblyopia (anisometropic = 18, strabismic = 6, and mixed = 29). The treatment outcomes such as duration of treatment of receiving part-time patching therapy, visual acuity and stereo-acuity deficits at the end of treatment were determined. Bivariate contour ellipse area (BCEA), fast (fixational saccade/quick phases), and slow (inter-saccadic drifts/slow phases) FEMs of the fellow and amblyopic eye were analyzed. RESULTS: Anisometropic group had less residual amblyopia (0.23±0.19logMAR acuity) compared to strabismic/mixed (0.36±0.26) groups (p = 0.007). Treatment duration in patients without nystagmus was lower (12.6±9.5months) compared to nystagmus without FMN (25.6±23.2) and FMN (29.5±20.4) groups (p = 0.006). Patients without nystagmus had better stereopsis at the end of treatment (2.3±0.84logarcsecs) compared to nystagmus without FMN (2.6±0.84) group (p = 0.003). The majority of patients with FMN (8/11) had absent stereopsis. BCEA of the amblyopic eye was higher in patients with greater residual visual acuity deficits in patients without nystagmus. No such association was seen in Nystagmus no FMN and FMN groups. Increased amplitude of fast FEMs, increased eye position variance and eye velocity of slow FEMs were seen in patients who had received longer duration of part time patching therapy and in those with greater residual amblyopia, and poor stereopsis at the end of treatment. CONCLUSIONS: Assessment of FEM waveforms and fast and slow FEM characteristics are important measures while describing fixation instability in amblyopia. Several FEM abnormalities were associated with stereo-acuity and visual acuity deficits and treatment duration in patients with amblyopia treated with part time patching therapy.
Subject(s)
Amblyopia/complications , Amblyopia/therapy , Nystagmus, Pathologic/complications , Amblyopia/physiopathology , Child , Child, Preschool , Eye Movement Measurements , Eye Movements , Humans , Infant , Nystagmus, Pathologic/physiopathology , Retrospective Studies , Treatment OutcomeABSTRACT
BACKGROUND: The COVID19 pandemic had a deep impact on healthcare facilities in Italy, with profound reorganization of surgical activities. The Italian ColoRectal Anastomotic Leakage (iCral) study group collecting 43 Italian surgical centers experienced in colorectal surgery from multiple regions performed a quick survey to make a snapshot of the current situation. METHODS: A 25-items questionnaire was sent to the 43 principal investigators of the iCral study group, with questions regarding qualitative and quantitative aspects of the surgical activity before and after the COVID19 outbreak. RESULTS: Two-thirds of the centers were involved in the treatment of COVID19 cases. Intensive care units (ICU) beds were partially or totally reallocated for the treatment of COVID19 cases in 72% of the hospitals. Elective colorectal surgery for malignancy was stopped or delayed in nearly 30% of the centers, with less than 20% of them still scheduling elective colorectal resections for frail and comorbid patients needing postoperative ICU care. A significant reduction of the number of colorectal resections during the time span from January to March 2020 was recorded, with significant delay in treatment in more than 50% of the centers. DISCUSSION: Our survey confirms that COVID19 outbreak is severely affecting the activity of colorectal surgery centers participating to iCral study group. This could impact the activity of surgical centers for many months after the end of the emergency.
Subject(s)
Colon/surgery , Coronavirus Infections/epidemiology , Digestive System Surgical Procedures/statistics & numerical data , Disease Outbreaks , Elective Surgical Procedures/statistics & numerical data , Pneumonia, Viral/epidemiology , Rectum/surgery , COVID-19 , Humans , Italy/epidemiology , Pandemics , Surveys and Questionnaires , Time FactorsABSTRACT
OBJECTIVE: To assess the efficacy of "Yokoyama Procedure," on non-highly myopic patients with acquired esotropia and hypotropia. METHODS: The study involved 10 eyes of 5 patients with eso-hypotropia. Inclusion criteria were acquired esotropic-hypotropic strabismus with lateral rectus inferior displacement and superior rectus nasal displacement confirmed by magnetic resonance imaging, refractive errors between ±6 D, and axial length < 27 mm. Range of full duction movements and maximum angles of abduction-sursumduction was measured in each eye before and after surgery. All patients underwent T1- and T2-weighted magnetic resonance imaging. The surgery was aimed at creating a junction between the muscle bellies of the superior and lateral rectus muscles. This junction was made approximately 14 mm behind the insertions using a non-absorbable mersilene 5/0 suture (Yokoyama procedure). RESULTS: Mean patient age was 64.8 ± 4.8 years. The mean globe axial length was 25.4 ± 0.76 mm and a mean corresponding spherical equivalent refraction of -3.7 ± 1.7 D was observed. Eight eyes on 10 had mild limitation in abduction, while the remaining 2 had no limitation. Three out of 10 eyes showed a moderate limited sursumduction, 5 eyes were categorized as mild, and the remaining 2 had no limitation. No evident post-operative limitation was present in any eye, in both abduction and sursumduction (p < 0.01). Pre-operative esotropia and hypotropia were, respectively, 32 ± 11 prismatic diopters and 25 ± 5 prismatic diopters, and they were significantly reduced after surgery as 9 ± 1.7 prismatic diopters and 6 ±1 prismatic diopters (p = 0.043), respectively. CONCLUSION: Yokoyama procedure is an effective, fast, reversible procedure to face eso-hypotropic acquired strabismus, even in patients with a clear magnetic resonance imaging displacement of superior and lateral rectus muscles, and absence of globe dislocation and of elevated myopia.
Subject(s)
Esotropia/surgery , Myopia/surgery , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures/methods , Aged , Esotropia/diagnostic imaging , Esotropia/physiopathology , Female , Follow-Up Studies , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Myopia/diagnostic imaging , Myopia/physiopathology , Oculomotor Muscles/diagnostic imaging , Strabismus/diagnostic imaging , Strabismus/physiopathology , Strabismus/surgery , Treatment Outcome , Vision, Binocular/physiology , Visual Acuity/physiologyABSTRACT
Amblyopic patients are known to have fixation instability, particularly of the amblyopic eye. The stability of the fixation is affected by the presence of nystagmus, the frequency and amplitude of fixational saccades and inter-saccadic drifts. Amblyopic patients without nystagmus have increased amplitude of the fixational saccades with reduced frequency of the physiologic microsaccades and have increased inter-saccadic drifts. Amblyopia patients who have experienced a disruption in binocularity in early infancy develop fusion maldevelopment nystagmus (FMN) previously called latent nystagmus as it is more evident during monocular viewing conditions. We have found that some amblyopic patients can have nystagmus with slow phases that are not directed nasally and without the reversal in direction on ocular occlusion, features seen in patients with FMN. The current mainstay of amblyopia treatment comprises of part-time occlusion therapy of the non-amblyopic eye. The amount of patching treatment is in the range of 2-6h/day as determined by the severity of amblyopia. Despite treatment, up to 40% of patients have residual amblyopia. We analyzed the effectiveness of part-time occlusion therapy in amblyopic patients as a function of fixation instability. We categorized amblyopic patients based on their eye movement waveforms obtained during a visual fixation task into those lacking nystagmus, those with FMN and those with nystagmus but no FMN. We did a retrospective chart review to gather information about their clinical characteristics and treatment response. We found that patients with FMN require a more prolonged duration of treatment and have a poorer recovery of stereopsis compared to patients with nystagmus but no FMN and patients lacking nystagmus. This study suggests that eye movement assessment provides valuable information in the management of amblyopia.
Subject(s)
Amblyopia/physiopathology , Depth Perception/physiology , Fixation, Ocular/physiology , Nystagmus, Pathologic/physiopathology , Ocular Motility Disorders/physiopathology , Treatment Outcome , Adult , Amblyopia/therapy , Biomarkers , Eye Movement Measurements , Female , Humans , Male , Retrospective StudiesABSTRACT
PURPOSE: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration. MATERIALS AND METHODS: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography. RESULTS: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina. CONCLUSIONS: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.
Subject(s)
Retinal Degeneration/etiology , Retinal Degeneration/pathology , Wolfram Syndrome/complications , Adult , Electroretinography , Female , Humans , Male , Prognosis , Young AdultABSTRACT
Purpose: The purpose of this study was to investigate the use of imaging biomarkers in published clinical trials (CTs) in ophthalmology and its eventual changes during the past 10 years. Methods: We sampled from published CTs in the fields of cornea, retina, and glaucoma between 2005-2006 and 2015-2016. Data collected included year of publication, phase, subspecialty, location, compliance with Consolidated Standards for Reporting Trials, impact factor, presence and use of imaging biomarkers (diagnostic, prognostic and predictive; primary and secondary surrogate endpoints), and use of centralized reading centers. Results: We included 652 articles for analysis, equally distributed in three timeframes (2005-2006, 2010-2011, and 2015-2016), mainly reporting phase IV CTs and trials on procedures (42.2% and 35.4%, respectively). Imaging biomarkers were included in 46.3% of the analyzed CTs and their use significantly increased over time (P < 0.05). Optical coherence tomography was the most frequently used device (27.7%), whereas diagnostic biomarkers and secondary surrogate endpoints were the most frequent biomarker types (19.5% and 22.5%, respectively). Early-phase CTs showed an increase in the use of biomarkers for patient selection and stratification over time (P < 0.05), but not in the use of imaging surrogate endpoints (P = 0.90). Only 3 of 59 (5.1%) of phase III CTs included primary surrogate imaging endpoints, whereas secondary surrogate imaging endpoints were present in 50.8% of these trials (P < 0.001). Retinal CTs had the highest prevalence for each type of imaging biomarker (P < 0.001). Reading centers were used in 52 of 302 CTs (17.2%), with no significant time-related increase. Conclusions: Imaging biomarkers are increasingly used in published CTs in ophthalmology. Additional efforts, including centralized reading centers, are needed to improve their validation and use, allowing a wider use of these tools as primary surrogate endpoints in phase III CTs.
Subject(s)
Clinical Trials as Topic , Diagnostic Techniques, Ophthalmological/trends , Endpoint Determination/methods , Eye Diseases/diagnosis , Forecasting , Ophthalmology , Humans , PrognosisABSTRACT
BACKGROUND: To evaluate the effects of dexamethasone implant in eyes affected by recalcitrant diabetic macular oedema (DME) associated with proliferative diabetic retinopathy (PDR). METHODS: Thirteen consecutive patients with centre-involving DME associated with PDR, central macular thickness (CMT) ≥300â µm, previous therapy with panretinal photocoagulation, focal/grid laser treatment and anti-vascular endothelial growth factor injection were prospectively enrolled. A complete ophthalmological examination included: best-corrected visual acuity (BCVA) assessment, spectral-domain optical coherence tomography and fluorescein angiography. After the first dexamethasone implant, each patient was evaluated on a bi-monthly basis and re-treated according to persistence/recurrence of DME from the fourth month on. Primary outcome measures were the changes in mean BCVA and CMT at the 12-month examination. Secondary outcome measures included changes to the outer retinal layers. RESULTS: BCVA improved from 0.99±0.31 LogMAR (logarithm of the minimum angle of resolution; Snellen Equivalent: 20/196) to 0.77±0.25 LogMAR (Snellen Equivalent: 20/117) (p<0.001) at the 12-month examination. CMT passed from baseline value 510±169â µm to 423±171â µm (p=0.018) at 12â months. The data showed a significant improvement in the integrity of the external limiting membrane (ELM, p=0.02), the ellipsoid zone (EZ, p=0.025) and retinal pigment epithelium (RPE, p=0.008), significantly correlated with the upturn in BCVA. CONCLUSIONS: Dexamethasone implant results in a recovery of morphology of the outer retinal layers even in patients displaying a compromised clinical situation. The qualitative status of the ELM and EZ might provide prognostic value for the final visual acuity and disease regression.