Retinoblastoma: hacia un diagnóstico más precoz / Retinoblastoma: towards an earlier diagnosis

OBJETIVOS: El número de enucleaciones y secuelas visuales por retinoblastoma es elevado. El objetivo del estudio fue evaluar diferentes aspectos diagnósticos y plantear estrategias que ayuden a mejorar el manejo clínico del retinoblastoma. Método: Estudio retrospectivo de 38 pacientes con retinoblastoma estudiados genéticamente (29 unilaterales, 9 bilaterales). Se evaluaron la edad de inicio, los signos clínicos y el tiempo de evolución, el número de enucleaciones, el momento de realización y la supervivencia a 5 años. Resultados: La leucocoria fue el signo clínico fundamental (presente en el 90% de los casos). El retraso diagnóstico medio fue de 3,2 meses. Entre los casos unilaterales se enuclearon el 76% de los ojos y en las formas bilaterales el 55%. Solo se encontró un fallecimiento entre los 25 pacientes seguidos durante al menos 5 años. Conclusiones: Las estrategias de diagnóstico y tratamiento del retinoblastoma necesitan ser actualizadas. Para ello, una buena coordinación entre pediatras y oftalmólogos es esencial. El manejo en centros de referencia, que dispongan de la tecnología y experiencia necesarias, debería contribuir a aumentar la tasa de preservación de órganos

OBJETIVOS: The number of enucleations and visual sequels due to retinoblastoma is high. The aim of this study was to evaluate the different diagnostic aspects and propose strategies that might improve the clinical management of this condition. Method: A retrospective study was conducted on 38 patients with retinoblastoma studied genetically (29 unilateral, 9 bilateral). The evaluation included: age of onset, clinical signs, and time since onset, number of enucleations, time to diagnosis, and survival at 5 years. Results: Leukocoria was the main clinical sign (present in 90% of cases). The mean diagnostic delay was 3.2 months. Among the unilateral cases, the eyes were enucleated in 76%, and 55% in the bilateral forms. Only one death was found among the 25 patients followed-up for at least 5 years. Conclusions: Retinoblastoma diagnostic and treatment strategies need to be updated. Good coordination between paediatricians and ophthalmologists is essential for this. Its management in reference centres, which have the necessary technology and experience, should contribute to increase the rate of organ preservation

Long-term Visual Acuity, Strabismus, and Nystagmus Outcomes Following Multimodality Treatment in Group D Retinoblastoma Eyes.

PURPOSE: To analyze the long-term visual acuity, strabismus, and nystagmus outcomes in Group D retinoblastoma following multimodality treatments in a national retinoblastoma referral center. DESIGN: Retrospective interventional case series. METHODS: A 13-year retrospective chart review of Group D eyes treated initially with intravenous chemotherapy (IVC) and followed up for at least 1 year from last treatment. Risk factors for final visual acuity (VA) were analyzed, and rate of strabismus and nystagmus at last follow-up visit were calculated. RESULTS: One hundred and four Group D eyes (92 patients) presented to our center during the study period, of which 32 (27 patients) met the inclusion criteria. Following IVC (vincristine, etoposide, and carboplatin), adjuvant treatments included intraophthalmic artery chemotherapy in 5 (16%) eyes, plaque brachytherapy in 5 (16%), transpupillary thermotherapy (TTT) in 18 (56%), and cryotherapy in 24 (75%) eyes. On last examination, 64.41 ± 6.76 months from presentation, mean final VA was 20/283 (logMAR equivalent of 1.15 ± 0.15). On univariate analysis, presentation age, foveal retinoblastoma (at initial examination), use of TTT, and tumor-foveola distance (at last visit) were found to be significant risk factors for worse VA (P < .026). On multivariate analysis, however, only TTT was found to be significant (P = .010). At last visit, 6 of 27 (22%) patients had nystagmus and 12 of 20 (60%) bilaterally salvaged patients had strabismus (n = 10 exotropia and n = 2 esotropia). CONCLUSIONS: After multimodality treatments initiated with IVC, 50% of salvaged Group D retinoblastoma eyes had <20/200 vision, with TTT being a risk factor for worse vision; 60% had strabismus; and 22% had nystagmus.

Accuracy and Efficiency of Orthoptists in Comprehensive Pediatric Eye Examinations.

INTRODUCTION AND PURPOSE: To investigate the level of agreement between orthoptists and medical practitioners in the comprehensive eye examination of children seen in an orthoptist-led triage clinic. PATIENTS AND METHODS: Patient records over a 6-month period were retrospectively reviewed. Those with a presenting complaint related to vision or ocular motility were triaged into the orthoptist-led clinic and included in the study. Patients who did not meet the triage protocol and those who were not assessed by a medical practitioner at a subsequent appointment were excluded from analysis. The clinical findings from the orthoptist and medical practitioner were collected and compared. RESULTS: In total, sixty-three patients were reviewed during the 6-month period and met the inclusion criteria. After the initial comprehensive eye examination with an orthoptist, thirty-two were discharged from hospital and thirty-one were asked to return for a review appointment with a medical practitioner. Agreement between the orthoptists and medical practitioners for the diagnosis of strabismus and/or amblyopia was 84.6% (κ = 0.649, P < 0.001). There was strong agreement between orthoptists and medical practitioners for refractive error of the right eye [τ (19) = 0.352, P = 0.729] and left eye [τ (19) = 1.785, P = 0.090]. Fundus examination comparisons between the orthoptists and medical practitioners showed very high agreement (95.7%). CONCLUSIONS: Orthoptists have the skills necessary to provide comprehensive care of children referred for ocular motility and/or vision related disorders. There was close agreement between orthoptists and medical practitioners when performing comprehensive eye examinations.

Tratamiento del estrabismo paralítico con toxina botulínica A / Treatment of paralytic strabismus with botulinum toxin A

Objetivos: evaluar los resultados obtenidos con el uso de la toxina botulínica A en la corrección del estrabismo paralítico e identificar los factores asociados que influyen sobre la respuesta terapéutica. Métodos: se realizó un estudio descriptivo en una serie de 93 casos con estrabismo paralítico, que recibieron tratamiento con toxina botulínica A. Resultados: se diagnosticaron 53 casos con estrabismo leve, 38 moderado y solo dos en estado grave. El tiempo de evolución y la gravedad clínica fueron los factores asociados que interfirieron con la respuesta terapéutica. Conclusiones: la toxina botulínica A es efectiva en la mayoría de los casos tratados. Los mejores resultados se obtienen en los casos con menor grado de desviación y con menor tiempo de evolución entre el inicio del estrabismo y la inyección del medicamento(AU)

Objectives: to assess the results of the use of botulinum toxin A in correcting paralytic strabismus and to identify those associated factors that have an impact on the therapeutic response. Methods: a descriptive study of a series of 93 cases with paralytic strabismus which were treated with botulinum toxin A. Results: fifty three cases were diagnosed with mild, 38 with moderate and just two with severe strabismus. The time of progression and the clinical severity were related factors that influence the therapeutic response. Conclusions: botulinum toxin A is effective in most of cases. The best results are achieved in those people with lower deviation degree and less time of progression elapsed from the onset of strabismus to the administration of the injected medication(AU)

[Laser speckle-based method for binocular vision recovery in diploptic treatment of concomitant strabismus].

OBJECTIVE: to investigate the effectiveness of the method of "dissociation" for concomitant strabismus treatment, which involves laser speckles and polaroid separation of visual fields. MATERIAL AND METHODS: A total of 40 patients with different types of concomitant strabismus and the average age of 9.8 years were enrolled. The treatment method implies the use of the Forbis device with polaroid separation of visual fields and low-energy helium-neon laser speckle patterns (green and red, 0.53 pm and 0.65 pm correspondingly). Binocular vision recovery was performed in the conditions of alternating exertion and relaxation of accommodation obtained through plus and minus spherical lenses. CONCLUSIONS: The method ensures an increase in the number of individuals capable of stereopsis from 31.2-44.4% (conventional treatment) to 54.4% as well as widening of the range of tolerated plus/minus spherical lenses, in which the binocular fusion is retained at the same degree of convergence.

Clinical association between teeth malocclusions, wrong posture and ocular convergence disorders: an epidemiological investigation on primary school children.

BACKGROUND: As the various systems in the body are inter-connected to form a single structural unit, a pathological condition in one area can also affect other areas. There are many known correlations between the visual and motor system. The importance of visual function, particularly the paracentral peripheral field of view, in motor coordination, ambulation and the maintenance of balance has been amply demonstrated.In line with current medical principles, which are moving towards a more holistic view of the human body, this study aims to investigate, in an interdisciplinary manner, the incidence of dental malocclusions together with posture and eye convergence disorders. METHODS: Six hundred and five children attending at the 3rd, 4th and 5th years of seven Genoa primary schools were examined. Each child underwent the following examinations: (i) dental/occlusal; (ii) orthoptic; and (iii) postural. Occlusal data concerned the presence of cross-bite, midline deviation with a mandibular shift, bad habits and deep or open bite.Postural assessment involved frontal and lateral inspection, investigation during trunk flexion and ambulation, and note of any asymmetry in the lower limbs. The recorded orthoptic data included those pertaining to ocular dominance, a cover test, convergence and the Brock string test. RESULTS: A prevalence of cases with an unphysiological gait was found in patients with overjet (14.70%) or overbite (14.87%), while the percentage of patients with normal occlusion that showed an unphysiological gait was 13.08%. Also, about 93.8%-94.2% of children showed normal legs without dysmetry, with no difference in respect to the type of occlusion. Subjects with an open bite or deep bite showed a slightly different distribution of right or left dominant eyes. CONCLUSION: About 13% of children showed a pathological gait and, among them, vertical anomalies of occlusion (deep bite or open bite) were prevalent with respect to the other occlusal defects. The vertical dimension of occlusion revealed a slight relationship with the proper dominant eye. Postural, orthoptic, osteopathic and occlusal variables were often clinically associated, and therefore these disorders appear to request a multidisciplinary medical approach for their treatment.

Low-level laser therapy improves visual acuity in adolescent and adult patients with amblyopia.

OBJECTIVE: The purpose of this study was to examine the effects of low-level laser therapy (LLLT) on visual acuity in adolescent and adult patients with amblyopia. BACKGROUND DATA: Currently, amblyopia can be treated successfully only in children. METHODS: In this single-blinded, placebo-controlled study, 178 patients (mean age 46.8 years) with amblyopia caused by ametropia (110 eyes) or strabismus (121 eyes) were included. For LLLT, the area of the macula was irradiated through the conjunctiva from 1 cm distance for 30 sec with laser light (780 nm, 292 Hz, 1:1 duty cycle; average power 7.5 mW; spot area 3 mm(2)). The treatment was repeated on average 3.5 times, resulting in a mean total dose of 0.77 J/cm(2). No occlusion was applied, and no additional medication was administered. Best corrected distant visual acuity was determined using Snellen projection optotypes. In 12 patients (12 eyes), the multifocal visual evoked potential (M-VEP) was recorded. A control group of 20 patients (20 eyes) received mock treatment. RESULTS: Visual acuity improved in ∼90% of the eyes treated with LLLT (p<0.001), increasing by three or more lines in 56.2% and 53.6% of the eyes with amblyopia caused by ametropia and strabismus, respectively. The treatment effect was maintained for at least 6 months. The mean M-VEP amplitude increased by 1207 nV (p<0.001) and mean latency was reduced by 7 msec (p=0.14). No changes were noted in the control group. CONCLUSIONS: LLLT led to a significant improvement in visual acuity in adolescent and adult patients with amblyopia caused by ametropia or strabismus.

The optic nerve head in congenital fibrosis of the extraocular muscles.

OBJECTIVE: Optic nerve head abnormalities have been reported in some patients with congenital fibrosis of the extraocular muscles (CFEOM). This study prospectively assesses optic nerve head appearance in a consecutive CFEOM cohort. METHODS: All patients with CFEOM referred between 2006 and 2010 and who were mature enough to cooperate with fundus photography were included. Fundus photographs were reviewed with attention to optic nerve head features (eg, cupping >0.6, asymmetric cupping >0.3, optic nerve hypoplasia). Interested participants had CFEOM candidate gene analysis (KIF21A, TUBB3, PHOX2A) for genetic counseling purposes. RESULTS: Ten CFEOM patients (five CFEOM1, five CFEOM3, age range 5-23 years) from eight families (all consanguineous but one) participated. All 10 patients had notable disc excavation (5) or optic nerve hypoplasia (5). CFEOM candidate gene analysis was performed in all patients and revealed a heterozygous p.R954W KIF21A mutation only in the patient who was not from a consanguineous family. CONCLUSIONS: Our observations suggest the optic nerve head can be affected by the orbital dysinnervation that occurs in CFEOM. Because careful clinical optic nerve head assessment is difficult in young patients with CFEOM and associated large angle incomitant strabismus, optic nerve head abnormalities may be under-diagnosed. The absence of mutations in known CFEOM genes in our cohort of consanguineous families suggests further genetic heterogeneity of this group of conditions.

[Electrodiagnostics and electrostimulation for the combined treatment of concomitant squint in children].

Methods for the electrodiagnostics and combined treatment of concomitant squint in children including pulsed electrostimulation of oculomotor muscles, pre- and ortoptical exercise therapy with the use of a synoptophor to correct concomitant strabismus. Indications and contraindications to these treatments are specified. High therapeutic effectiveness of oculomotor electrostimulation has been demonstrated in the study including 208 children with strabismus.

[Diplopia through toxic myopathy after cataract surgery]. / Diplopie prin miopatie toxica dupa operatia de cataracta.

UNLABELLED: Cataract surgery is one of the most successful procedures in the last decades. In this paper we present the evolution and the treatment results in four cases of post cataract surgery diplopia, analyzing the causes influencing the outcome of strabismus. MATERIAL AND METHOD: In the last three years, four cases of post cataract surgery diplopia have been diagnosed in the Ophthalmological Clinic of Cluj. The surgical procedure used in all four patients was phacoemulsification and artificial lens implantation. The patients received para- or retrobulbar xylocaine 2- % anesthesia. Hypertropia was present in all patients, with a variable time of onset. The evolution of diplopia decided the therapeutic attitude. One patient was treated with extraocular muscle surgery. The second one received prismatic optical correction. In one patient diplopia disappeared spontaneously after one month of evolution. The fourth patient refused surgical correction. RESULTS AND CONCLUSIONS: The two treated patients (surgery and prismatic optical correction) had a favorable outcome. The following conclusions could be drawn. 1. Toxic myopathy is the main cause of ocular deviations and diplopia after cataract surgery. 2. The inferior rectus muscle is the most frequently affected. 3. Hypertropia is the most frequent ocular deviation. 4. Post cataract surgery diplopia may disappear spontaneously or can be treated surgically (extraocular muscle surgery) or optically (prismatic optical correction).

A review of preschool vision screening for strabismus and amblyopia in France: 23 years experience in the Alsace region.

The authors report their experience in preschool vision screening in the east of France, involving the Mother and Child Welfare Service and the School Health Service, under the administration of the National Ministry of Education. The review underlines the importance of early diagnosis of visual disorders in children before they reach three years of age. They recommend screening of every child at least once before the age of four years.

[Shutter-glasses haploscope with eye-tracking control for fusion therapy]. / Shutter-Brillen-Haploskop mit Eye-Tracker-Regelung zum Zweck der Fusionstherapie.

BACKGROUND: Common haploscopes require a manual input of the presented disparity and particularly prepared images; moreover, they can be used predominantly by orthoptists. We developed a device that makes possible a haploscope on the basis of a computer monitor with shutter-glasses. The presented disparity is determined with help of an eye-tracker. MATERIALS AND METHODS: A patient looks at a monitor through shutter-glasses, the eyes being recorded by a camera. An eye-tracking software determines the fixation points and the angle of strabismus. Images are presented at the monitor with a disparity that is regulated according to these measurements. This is controlled by means of a software so that the disparity is gradually decreased according to the patients abilities. Diagnostic data are recorded permanently. RESULTS: Any monitor contents, such as videos, TV or computer applications, can be used for fusion training or diagnostic purposes with the new apparatus. Initial investigations of patients with heterophoria or intermittent exophoria indicate a decrease of the subjective angle of strabismus by compensation and an increase of the fusional range. CONCLUSIONS: The developed shutter-glass-haploscope with eye-tracking control provides several methods for diagnosis. The appliance provides automated fusion training adapted to the patient that can be done at the working place or at home.

Restrictive strabismus after retrobulbar anesthesia.

Two rare cases of strabismus resulting from contracture of the extraocular rectus muscles after retrobulbar anesthesia for cataract surgery are described. Clinical signs in both cases suggested that the development of the impaired function of the lateral and superior rectus muscles followed the same pattern: initial stimulation followed by paretic and restrictive stages. Abnormal enlargement of the muscles was identified by computed tomography (CT) and magnetic resonance imaging (MRI). The data indicate that the strabismus was the result of direct injection of anesthetics into the rectus muscle.

Efficacy and safety of the "integral" phototherapy for neonatal hyperbilirubinemia. Results of a follow-up at 6 years of age.

One hundred and ten full-term newborns were treated with integral phototherapy (IP) in the first week of life for hyperbilirubinemia (peak bilirubin concentration, 19.5 +/- 2.8 mg/dl). IP was provided by an apparatus which irradiated the infants over the entire skin surface with four visible blue light lamps placed around the body at a mean distance of only 20 cm. The irradiance of the lamps at the skin surface was 0.350 mW/sq cm, in the wavelength range between 425 and 475 nm. The IP resulted in a 48-hour bilirubin decline rate of 0.163 mg/dl/h. After a mean exposure of 78 +/- 32 h, the mean plasma bilirubin level was 8.4 +/- 0.8 mg/dl. One hundred and ten comparable nonjaundiced infants were studied as controls. At 6 years of age, both groups of subjects were called for a follow-up concerning growth, visual, and hearing functions, and neuro-developmental status. The follow-up was completed in 81 children of the IP group (73.6%) and in 89 of the controls (80.6%). There were no significant differences in the studied parameters between the two groups. The study concludes that IP appears to be an effective and safe treatment for jaundiced infants. IP employs less radiant energy from the lamp source than the traditional apparatus, but delivers this energy to a larger skin surface area.