Nerve growth factor improves visual loss in childhood optic gliomas: a randomized, double-blind, phase II clinical trial.

Paediatric optic pathway gliomas are low-grade brain tumours characterized by slow progression and invalidating visual loss. Presently there is no strategy to prevent visual loss in this kind of tumour. This study evaluated the effects of nerve growth factor administration in protecting visual function in patients with optic pathway glioma-related visual impairment. A prospective randomized double-blind phase II clinical trial was conducted in 18 optic pathway glioma patients, aged from 2 to 23 years, with stable disease and severe visual loss. Ten patients were randomly assigned to receive a single 10-day course of 0.5 mg murine nerve growth factor as eye drops, while eight patients received placebo. All patients were evaluated before and after treatment, testing visual acuity, visual field, visual-evoked potentials, optic coherence tomography, electroretinographic photopic negative response, and magnetic resonance imaging. Post-treatment evaluations were repeated at 15, 30, 90, and 180 days Brain magnetic resonance imaging was performed at baseline and at 180 days. Treatment with nerve growth factor led to statistically significant improvements in objective electrophysiological parameters (electroretinographic photopic negative response amplitude at 180 days and visual-evoked potentials at 30 days), which were not observed in placebo-treated patients. Furthermore, in patients in whom visual fields could still be measured, visual field worsening was only observed in placebo-treated cases, while three of four nerve growth factor-treated subjects showed significant visual field enlargement. This corresponded to improved visually guided behaviour, as reported by the patients and/or the caregivers. There was no evidence of side effects related to nerve growth factor treatment. Nerve growth factor eye drop administration appears a safe, easy and effective strategy for the treatment of visual loss associated with optic pathway gliomas.

A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings.

PURPOSE: To investigate the efficacy of a one-stage early correction of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), using bovine pericardium derived membrane (TUTOPATCH(®)) for the frontalis suspension. METHODS: We prospectively studied 12 eyes from 6 patients (median age 14 months) affected by BPES with severe ptosis. All patients were submitted to a one-stage early correction of ptosis (frontalis suspension with TUTOPACH(®)) and telecanthus and epicanthus inversus. Upper margin reflex distance (MRD), nasal inner intercanthal distance (IICD), horizontal fissure length (HFL), and IICD/HFL ratio were evaluated using photographs. RESULTS: The Wilcoxon signed-rank test showed a statistically significant difference between pre- and post-operative MRD, IICD, HFL, and the IICD/HFL ratio. CONCLUSION: An early TUTOPATCH-assisted frontalis suspension, together with the correction of telecanthus and epicanthus inversus, is an effective procedure for BPES cases with severe ptosis.

Effect of oral CDP-choline on visual function in young amblyopic patients.

PURPOSE: The purpose of the study was to evaluate the effect on visual function of orally administered CDP-choline in addition to patching for the treatment of amblyopia in children. METHODS: This was an open label parallel group study comparing patching plus oral CDP-choline with patching alone. Sixty-one participants (aged between 5 and 10 years) suffering from anisometropic or strabismic amblyopia were divided at random into two groups: Group A, 800 or 1,200 mg (according to the body weight) of orally administered CDP-choline and 2-h patching a day; Group B, 2-h patching a day. Both groups were treated for 30 consecutive days. A follow-up visit was set 60 days after the treatment was discontinued. The main outcome measure was the change in visual acuity of amblyopic eyes as measured by Snellen's E charts. The secondary outcome measures were changes in the visual acuity of amblyopic eye as measured by isolated letters (Snellen's E) and changes in the contrast sensitivity of amblyopic eyes. RESULTS: The addition of CDP-choline to patching therapy was not found to be more effective than patching alone after 30-day treatment. The present results showed that adding CDP-choline to patching stabilised the effects obtained during the treatment period. In fact, whereas the participants treated only with patching showed a decrease in visual acuity at 90 days, these receiving CDP-choline and patching combined appeared to maintain the results obtained (two-way ANOVA: P = 0.0042). Similar results were obtained when measuring visual acuity by isolated Snellen's E letters. CONCLUSIONS: In amblyopic patients, CDP-choline combined with patching contributes to obtaining more stable effects than patching alone.

The impact of strabismus surgery on gait pattern in patients with congenital or starting within one year of age strabismus.

Strabismus is a common visual disorder that negatively affects walking and balance. Therapeutic interventions for strabismus include strabismus surgery. Few studies investigated the relationship between strabismus surgery and postural control while, to the best of our knowledge, none has been conducted to assess the influence of strabismus surgery on gait. Therefore, the aim of this study was to evaluate the locomotion characteristics over patients with congenital or starting within one year of age strabismus, one month and three months after strabismus surgery. We enrolled 17 patients with a number of motor and sensorial features. Patients underwent an orthoptic and ophthalmological evaluation as well as a biomechanical evaluation before (T0) and after strabismus surgery (T1 at 1 month, and T2 at 3 months). We observed, mostly in T2 evaluation, significant improvements in the spatio-temporal parameters, such as cadence, velocity, swing, stance and double support phases, step and stride length. The kinematic results revealed a significant increase in hip ROM, strongly related to the improvement of gait speed. No significant differences has been observed in knee and ankle joint ROM. The kinetic results revealed a significant increase in the maximum moment at the knee and ankle joints associated with an increase in the maximum ankle power. Our findings suggest that the safety and balance control associated with gait improve in patients with strabismus following surgery.

Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.

BACKGROUND: Mutations in the cytokine receptor-like factor 1 (CRLF1) gene are responsible for Crisponi/Cold-induced Sweat Syndrome, an extremely rare autosomal-recessive multisystem disorder. The protein encoded is a soluble cytokine receptor, involved in the ciliary neurotrophic factor receptor (CNTFR) pathway. The ciliary neurotrophic factor (CNTF) promotes corneal wound healing and patients with Crisponi/CISS1 syndrome suffer from recurrent keratitis. The aim of the study was to report and discuss the corneal alterations in Crisponi/CISS1 rare disease. MATERIALS AND METHODS: We evaluated the cornea of both eyes in four Crisponi/CISS1 patients to provide a detailed description of slit-lamp biomicroscopy findings. Corneal sensitivity, tears functionality and blinking video recording at rest were also assessed in all patients. Two patients were also evaluated with in vivo confocal microscopy, completed with a needle electromyography of their orbicularis muscles. RESULTS: None of the patients presented a tears dysfunction and video recording documented a prolonged lid excursion in all patients. Slit lamp examination revealed a chronic epithelial impairment in all cases. Needle electromyography of the orbicularis oculi showed a dystonic pattern. The confocal microscopy confirmed the biomicroscopic observed lesions and documented unusual findings of the corneal nerve plexus. CONCLUSIONS: This is the first report of microscopic cornea alterations explored with confocal imaging in Crisponi/CISS1 patients. The observed corneal findings suggest a possible direct correlation to the CNTFR pathway defect and the blinking imbalance could exacerbate the compromised epithelial wound healing. Topical administrations of lubricating eye drops are strongly recommended in these patients.

Refractive surgery in patients with high myopic anisometropia.

PURPOSE: To assess the efficacy and safety of LASIK in patients with high myopic anisometropia and to provide specific screening guidelines for anisometropic patients undergoing refractive surgery. METHODS: Twenty-six eyes of 16 patients with high myopic anisometropia (>3.0 diopters) were enrolled in this study. Complete pre- and postoperative ophthalmologic and orthoptic examinations were performed. The preoperative orthoptic examination was done with glasses and contact lenses. Twenty-two eyes of 13 patients underwent uncomplicated LASIK; the second eye was treated 2 weeks after the first eye. Patients were examined 1 day, 7 days, and 1, 3, 6, and 12 months after surgery. RESULTS: Thirteen patients obtaining good results at red glass bar test (RGB) underwent LASIK without postoperative diplopia; four showed an improvement of the sensorial assessment. Three patients were excluded from surgery because of diplopia with RGB values <4 to 5. LASIK temporarily induced diplopia in the suppressed eye of one patient; however, the diplopia disappeared after surgery of the fixating eye. CONCLUSIONS: Patients with high myopic anisometropia and a weak sensorial state who undergo refractive surgery may be at risk for postoperative diplopia. We suggest clinical guidelines to reduce the occurrence of this complication.

Acute acquired concomitant esotropia and decompensated monofixation syndrome: a sensory-motor status assessment.

OBJECTIVE: To assess and compare sensory-motor status and clinical features of type I and type II acute acquired concomitant esotropia (group A) and decompensated monofixation syndrome (group B). METHODS: In a retrospective, comparative study, 26 patients with a confirmed postoperative diagnosis of type I and II acute acquired concomitant esotropia and monofixation syndrome were enrolled. The 2-tailed unpaired t test and 2-tailed χ(2) test were performed to compare angle of deviation and sensory-motor status under the environmental conditions and after prismatic adaptation test and progressive prism test of 2 groups. RESULTS: All of the patients of group A and 4 patients (33%) of group B experienced diplopia under viewing conditions in the Worth's 4 dot and Bagolini striated glass tests. The TNO stereo test showed the total absence of stereopsis in 6 patients in group B and a significantly lower stereoacuity in group A in the remaining 6 patients (p < 0.0001). The prismatic adaptation test was positive in all of the patients in group B and in 10 patients (71%) in group A (p = 0.39). The value of the angle of deviation after the progressive prism test was significantly higher in group B than in group A (p = 0.02). At the end of the progressive prism test, all of the patients in group A and only 2 patients in group B were orthotropic (p = 0.01). CONCLUSIONS: Bagolini striated glass and Worth's 4 dot tests under viewing conditions and responses under prisms allow for the differentiation of the 2 forms and lead to an accurate aesthetic and functional prognosis.

Balance in subjects with congenital or early onset strabismus: Influence of age.

Few studies have investigated the relationship between strabismus and balance, and those that do exist focused on patients within a limited age range, while no studies on possible age-related changes have yet been conducted. Therefore, the aim of our study was to investigate whether the balance strategies adopted by patients with congenital or early onset strabismus change with age. Forty strabismic patients and 36 healthy subjects were enrolled in the study. Both patients and healthy subjects were divided into three subgroups according to age (children, adolescents, and adults) and underwent a stabilometric evaluation. When we compared the whole group of strabismic patients with the group of healthy subjects, we found that the center of pressure area and the trunk oscillations in the former were significantly different from those in the latter; when we considered the three age groups separately, only values in children with strabismus were different from those in the age-matched control group of healthy subjects. Strabismus was found to affect balance in children by inducing a postural strategy characterized by a reduction in physiological trunk oscillations. Gaining a better insight into postural control in strabismic subjects and its evolution with age may be crucial to improving rehabilitation in such patients and planning tailored rehabilitation treatment.

Acute onset concomitant esotropia: sensorial evaluation, prism adaptation test, and surgery planning.

BACKGROUND AND OBJECTIVE: Acute acquired concomitant esotropia is a rare form of strabismus that usually presents during infancy or early childhood with diplopia and minimal refractive error. The aim of this study was to evaluate the response to the prism adaptation test in a group of normosensorial patients with acute acquired concomitant esotropia and to determine its predictive value for surgical outcome. PATIENTS AND METHODS: Six patients (median age, 11 .5 years) with acute acquired concomitant esotropia underwent the prism adaptation test by applications of Fresnel press-on and prismatic lenses. The sensorial condition of each patient had been evaluated with theTNO stereopsis test, the Irvine test, Bagolini striated glasses, and the Worth four-dot test during the prism adaptation test, when maximum compensation angle was achieved, and after surgery. In all patients, surgery was performed based on the angle of the squint after the prism adaptation test. Patients were observed 1 day, 3 months, 6 months, and 1 year after surgery. RESULTS: An increase in the angle of the squint occurred in all patients during prism adaptation. The maximum value was obtained in the same amount of time whether with prisms of increasing power or by direct application of the final value of the prisms. The final prismatic value (target angle) was always the same. CONCLUSIONS: The accuracy of the patients' selection confirmed the existence of highly reproducible compensational movements to the prismatic correction in not only patients with anomalous retinal correspondence but also normosensorial patients. Prism adaptation test results were useful in these patients because of their high predictive value for the surgical treatment.

Functional Loss of the Inner Retina in Childhood Optic Gliomas Detected by Photopic Negative Response.

PURPOSE: To determine whether the Ganzfeld ERG photopic negative response (PhNR), an assay of inner retinal activity, is altered in childhood optic glioma (OPG). METHODS: Seventeen pediatric patients with a diagnosis of OPG, established on neuro-ophthalmologic and brain/orbit magnetic resonance imaging (MRI) criteria, were enrolled. The examination protocol included determination of visual acuity (VA), fundus examination, retinal nerve fiber layer (RNFL) measurement with spectral-domain optical coherence tomography (SD-OCT) and photopic ERG. Fifteen normal children served as control group. Ten of the 17 OPG patients were retested 1 to 3 months after the first examination. Photopic ERGs were recorded after 10 minutes of light adaptation in response to a Ganzfeld flash presented on a steady light-adapting background. Amplitude and peak-time of b-wave and PhNR were measured. RESULTS: Compared with normal values, PhNR amplitude was significantly reduced (P < 0.0001) in the OPG group. Peak-time of PhNR as well as b-wave amplitude and peak-time were similar in both patients and controls. Losses of PhNR were found in patients with involvement of either anterior or retro-chiasmatic optic pathways. Linear regression analysis showed significant positive correlation between RNFL thickness and PhNR amplitude (r2 = 0.34, P = 0.008). Mean percentage test-retest difference for PhNR amplitude and peak-time was 12% and 6%, respectively. CONCLUSIONS: These findings indicate that flash ERG PhNR can detect a loss of inner retinal function in childhood OPGs supporting the use of this technique, as an adjunct to standard psychophysical and electrophysiological tests, to monitor visual function in OPG.

A fast visual evoked potential method for functional assessment and follow-up of childhood optic gliomas.

OBJECTIVE: To evaluate a fast technique of visual evoked potentials (VEPs) recording, in response to steady-state luminance stimuli (SS-LVEPs), for functional assessment and follow-up of childhood optic gliomas (OGs). METHODS: Eighteen OG patients (age range: 3.5-18 years), with different degrees of optic pathway damage severity, were examined. Sixteen age-matched normal subjects served as controls. Ten of the 18 OG patients were re-tested 1-3 months after the first examination. SS-LVEPs were elicited by a sinusoidally-modulated flickering (8 Hz) uniform field, generated by a light emitting diode (LED)-array and presented monocularly in a mini-ganzfeld. Amplitude and phase of the Fourier-analyzed response fundamental (1F) and second harmonic (2F) were measured. The full VEP protocol had a median duration of 6 min (range: 4-12). RESULTS: When compared to normal control values, median 1F and 2F SS-LVEP amplitudes of OG patients were reduced (P<0.01), with a borderline increase in 2F phase lag (P<0.05). In 11 OG patients with asymmetric optic pathway damage in between-eye comparisons, median 1F amplitude losses were greater (P<0.01) in fellow eyes with more severe damage. No significant interocular difference was observed in control subjects. Median test-retest changes of 1F and 2F component were <20% and 30 degrees for amplitude and phase, respectively. In individual OG patients, 1F and 2F amplitudes were positively correlated (P<0.01) with visual acuity. 1F amplitude losses were correlated (P=0.01) with the severity of optic disc atrophy. Considering both 1F and 2F abnormalities, diagnostic sensitivity of SS-LVEP in detecting OG-induced optic pathways damage was 83.3%. CONCLUSIONS: The present findings support the use of this technique, as an alternative to pattern VEPs, for functional assessment and follow-up of OG in uncooperative children.

Walking strategies in subjects with congenital or early onset strabismus.

INTRODUCTION: In congenital strabismus, sensory adaptations occur hampering the correct development of normal binocular vision. The aim of this study is to investigate if patients with congenital or early onset exotropic or esotropic strabismus adopt different walking strategies with respect to healthy subjects. Our hypothesis is that the abnormal binocular cooperation, occurring in patients with exotropic or esotropic strabismus, could influence neurosensorial adaptation of the gait pattern. MATERIALS AND METHODS: Twenty-five patients were enrolled: 19 with esotropic (ESO) and 6 with exotropic strabismus (EXO). All patients underwent an ophthalmological and orthoptic evaluation. Biomechanical data were collected using a stereophotogrammetric system and a force platform. Twenty-seven age-matched healthy subjects (HS) were used as controls. RESULTS: The comparison between patients with ESO and patients with EXO strabismus showed that the maximal power at the knee and at the ankle was lower in EXO group (p < 0.01 and p < 0.05, respectively). The step width was statistically different between ESO and EXO groups (p < 0.01), lower in patients with ESO and higher in patients with EXO strabismus when compared with HS (though not statistically significant). The deviation angle values showed a relationship with the step width (at the near fixation p < 0.05) and with the maximal power at the knee and at the ankle (at the far fixation for the knee p < 0.001 and for the ankle p < 0.05; at the near fixation for the knee p < 0.05): in the patients with EXO the increased angle deviation is related to larger step width and to lower power at the knee and at the ankle. In the patients with ESO strabismus this relationship is less robust. DISCUSSION: Patients with EXO and ESO strabismus adopt different strategies to compensate their walking difficulties, and these strategies are likely due to an expanded binocular visual field in patients with EXO and to a reduced visual field in patients with ESO strabismus.

Improved sensory status and quality-of-life measures in adult patients after strabismus surgery.

PURPOSE: To evaluate the change in sensory status and quality-of-life measures in adults with long-standing childhood-onset constant strabismus. METHODS: Consecutive patients with childhood-onset, long-term constant strabismus were enrolled. Sensory status was examined with Bagolini striated glasses test and Worth 4-dot test. Stereopsis was tested with the Lang and TNO stereopsis tests. Quality of life was studied with 2 different questionnaires (Short Form Health Survey [SF-36] and the Amblyopia and Strabismus Questionnaire [A&SQ]), which patients completed before and 3 months after strabismus surgery. RESULTS: A total of 20 patients (age range, 18-63 years) were included, 10 of whom were esotropic and 10 of whom were exotropic. Of these, 13 obtained a satisfactory postoperative alignment and demonstrated an increase of sensory status with Bagolini striated glasses. Six patients who demonstrated suppression preoperatively achieved fusion and stereopsis postoperatively. The mean score in all domains of the A&SQ improved significantly, particularly with regard to social contact and cosmesis (P = 0.00067), distance estimation (P = 0.000312), and visual disorientation (P = 0.004777). Similarly, the mean score in 7 of 8 areas in the SF-36 improved significantly, particularly with regard to physical function (P = 0.000564), general health (P = 0.002296), vitality (P = 0.002891), social function (P = 0.004234), and mental health (P = 0.000334). The overall mean score of both questionnaires improved in all patients with a satisfactory postoperative alignment and increase of sensory status. CONCLUSIONS: Surgical treatment of strabismus in adults with long-standing childhood-onset constant strabismus can result in patients feeling that their quality of life has improved and can restore binocular sensory function.

Prevalence of neurological involvement and malformative/systemic syndromes in A- and V-pattern strabismus.

PURPOSE: To evaluate the prevalence of neurological involvement and malformative/systemic syndromes in A- and V-patterns with respect to other kinds of infantile concomitant strabismus. METHODS: A retrospective comparative study of 14,006 consecutive patients examined in the Pediatric Ophthalmology and Strabismus Unit at the Catholic University of Rome between January 2002 and February 2010 was carried out. A total of 2.72% (385) of patients presented with concomitant constant infantile strabismus associated with A- and V- patterns (study group; mean age 8 years; range: 8 months - 37 years; male 211, female 174). Another 377 consecutive patients affected by infantile concomitant strabismus without A- or V- patterns were used as controls (control group; mean age 9 years, range: 1-34 years; male 194, female 183). All patients underwent a complete ophthalmologic and orthoptic examination with ocular motility evaluation and prism cover test or the Hirschberg test in primary, up and down gaze positions, as well as cycloplegic retinoscopy. The angle of deviation was evaluated at near (33 cm) and distance fixation (6 m) with full correction of refraction. RESULTS: Neurological involvement and malformative/systemic syndromes were observed in 30.4% of the study group and in 19.8% of patients in the control group (P < 0.001). Patients with A-pattern showed a greater prevalence of neurological impairment, hydrocephalus and meningomyelocele, while those affected by V-pattern exhibited a greater prevalence of craniosynostosis and malformative syndromes. CONCLUSIONS: Neurological involvement and malformative/systemic syndromes seem to be more evident in patients presenting with A- and V-pattern strabismus.

Measurement of retinal nerve fiber layer thickness, macular thickness, and foveal volume in amblyopic eyes using spectral-domain optical coherence tomography.

Although the changes in the anatomy of the visual cortex and lateral geniculate nucleus as the result of amblyopia have been well documented, retinal involvement is still controversial. Time-domain optical coherence tomography with an axial resolution of 10 µm has been used to evaluate retinal and peripapillary tissues in amblyopic eyes with contradictory results. Spectral domain optical coherence tomography has a greater resolution (5-10 µm) and can determine retinal layers more precisely. Our purpose was assess by means of spectral domain optical coherence tomography whether the retinal nerve fiber layer thickness, macular thickness, and foveal volume of the amblyopic and the fellow eyes differ in patients with unilateral amblyopia. Intereye differences in these parameters were found to be insignificant.

Effect of vertical transposition of the medial rectus muscle on primary position alignment in infantile esotropia with A- or V-pattern strabismus.

PURPOSE: To determine the effect of vertical displacement of muscle insertions on the surgical dose-response relationship in patients undergoing bilateral medial rectus recessions. METHODS: Retrospective chart review of patients undergoing bilateral medial rectus recessions for correction of congenital esotropia with or without vertical displacement for A or V patterns. Patients were clustered into A pattern, V pattern, and "simple" (no pattern) groups. Strabismus angle at distance and near before and after surgery was recorded. Surgical dose-response relationships (in prism diopters/mm) were determined at the 6-month follow-up visit and compared. RESULTS: A total of 55 patients (28 male and 27 female patients; mean age, 6.9 years; range, 2-17 years) were included. Of these, 28 had either A pattern (18) or V pattern (10), and 27 were in the simple group. Mean preoperative angle of deviation was 34Δ at distance and 40Δ at near. The surgical dose-response relationship was significantly greater (at both distance and near) in the A pattern group (2.43Δ/mm, distance [p=0.005]; 2.76Δ/mm, near [p=0.04]) than in the simple group (1.56Δ/mm, distance; 2.03Δ/mm, near). The surgical response in the V pattern group (1.96Δ/mm, distance [p=0.34]; 2.03Δ/mm, near [p=0.94]) was not significantly different from the simple group. CONCLUSIONS: Upward displacement of the medial rectus muscles increased the surgical dose/response relationship in patients with A-pattern esotropia. A similar effect was not observed with downward displacement in patients with V-pattern strabismus. Surgeons should be aware of this enhanced response when planning surgery for A-pattern esotropia.

A morpho-functional study of amblyopic eyes with the use of optical coherence tomography and microperimetry.

PURPOSE: To determine whether retinal nerve fiber layer thickness (RNFLT), macular thickness, foveal volume, macular sensitivity, and fixation in patients with amblyopia differ between the amblyopic eye and the fellow eye. METHODS: Optical coherence tomography (OCT) and microperimetry (MP-1) were used to evaluate patients with unilateral amblyopia. Patients were divided into 2 groups, those with strabismic amblyopia and those with refractive amblyopia. OCT maps were used to calculate foveal volume, macular thickness, and RNFLT; MP-1 was used to determine macular sensitivity and fixation. RESULTS: A total of 30 patients were included (13 males; mean age 19.7 years [range, 10-38 years]), 15 in each group. Mean best-corrected visual acuity was 20/35 (range, 20/50 to 20/32) in the amblyopic eye and 20/21 (range, 20/20 to 20/25) in the fellow eye. In both groups, mean foveal volume and RNFLT did not differ significantly between eyes. Only macular thickness in the strabismic group differed significantly between the amblyopic and fellow eyes (P = 0.03). Macular sensitivity was significantly greater in the fellow eye in both groups (strabismic group, P = 0.002; refractive group, P = 0.013), whereas fixation did not change significantly between the amblyopic and fellow eye. RNFLT and macular sensitivity was found to be significantly correlated (strabismic group, r = 0.84, P = 0.002; refractive group, r = 0.66, P = 0.02). CONCLUSIONS: Our data suggest that although RNFLT does not vary between eyes, macular sensitivity is reduced in patients with amblyopia.

Unilateral amblyopia: An optical coherence tomography study.

PURPOSE: To determine whether retinal nerve fiber layer thickness (RNFLT), macular thickness (MT), and foveal volume (FV) in patients with unilateral amblyopia differ between the amblyopic and the sound eye. METHODS: A Humphrey-Zeiss Stratus (OCT3) with software 4.0.3.1 was used to evaluate 40 patients (17 male, 23 female; mean age, 15.2 years; range, 5-56 years) with unilateral amblyopia. Patients were divided into 2 groups: 20 strabismic and 20 anisometropic. Maps of macular thickness and RNFL thickness (3.46) created by the use of optical coherence tomography were applied to calculate FV and MT and RNFLT. RESULTS: Mean best-corrected visual acuity was +0.3 LogMAR (range, +0.2 to +1.0) in the amblyopic eye. Mean RNFL thickness was not significantly different between eyes in either group. In strabismic amblyopia, mean MT and FV were 5% lower in the sound eye than in the amblyopic eye (MT, 267 microm vs 253 microm, p = 0.005; FV, 2.57 mm(3) vs 2.43 mm(3), p = 0.001). In anisometropic amblyopia, there was no significant difference between eyes in either MT or FV. CONCLUSIONS: In patients with strabismic amblyopia, the MT and FV were slightly but significantly lower in the sound eye than in the amblyopic eye. The clinical importance of this difference is not known. No such difference was observed in patients with anisometropic amblyopia.

Ocular manifestations in Wolf-Hirschhorn syndrome.

INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial appearance, mental retardation, growth delay, and seizures. METHODS: We investigated the ocular defects in a population of 10 patients with WHS and analyzed the relationship between ocular findings and the extent of deletion on chromosome 4. RESULTS: The ocular abnormalities found included hypertelorism, strabismus, refractive errors, epicanthal folds, proptosis, downslanting palpebral fissures, microphthalmos, microcornea, iris coloboma, optic nerve coloboma, ocular cyst, ptosis, glaucoma, and nystagmus. Different breakpoints of the chromosomal rearrangement were observed in individual patients, ranging from 4p15.1 to 4p16.3, and the size of chromosomal deletion ranged from 2.6 to 26 million base pairs. CONCLUSIONS: Congenital glaucoma and colobomatous ocular cysts have rarely been described in WHS patients that were previously reported. In all cases exhibiting strabismus, an exodeviation was present. Comparing genotype with ocular phenotype, a relationship between the size of deletion and the severity of the ocular involvement was observed in all cases but one.

Longitudinal assessment of childhood optic gliomas: relationship between flicker visual evoked potentials and magnetic resonance imaging findings.

The aim of this study was to evaluate longitudinally functional and neuro-radiologic findings in childhood optic gliomas (OG), by comparing flicker visual evoked potentials (F-VEPs) with brain magnetic resonance imaging (MRI) changes. Fourteen children (age range: 1-13 years) with OGs underwent serial F-VEP, MRI and neuro-ophthalmic examinations over a 38 month (median, range: 6-76) follow-up. F-VEPs were elicited by 8 Hz sine-wave flicker stimuli presented in a mini-Ganzfeld. Contrast-enhanced MRI examinations were performed. Results of both tests were blindly assessed by independent evaluators. F-VEPs were judged to be improved, stable or worsened if changes in the amplitude and/or phase angle of the response exceeded the limits of test-retest variability (+/-90th percentile) established for the same patients. MRI results were judged to show regression, stabilization or progression of OG based on its changes in size (+/-20%) or extension. Two to seven pairs of F-VEP/MRI examinations per patient (median: 4) were collected. Based on a total of 38 pairs of F-VEP/MRI examinations, both tests agreed in showing worsening (progression), stabilization and improvement (regression) in 5, 15 and 10 cases, respectively. In 3 cases, F-VEPs showed a worsening and MRI a stabilization, while in 5 cases F-VEPs showed an improvement and MRI a stabilization. Agreement between F-VEP and MRI changes was 78.9% (95% CI: +/- 37%, K statistics = 0.67, P < 0.001). The results indicate that longitudinal F-VEP changes can predict changes in MRI-assessed OG size and extension, providing a non-invasive functional assay, complementary to neuro-imaging, for OG follow-up.