Functional results in children with retinopathy of prematurity treated with intravitreal bevacizumab.

BACKGROUND/AIM: The aim of the study is to describe the efficacy and to determine the functional outcome in terms of visual acuity and refractive defect of a single dose of intravitreal bevacizumab in patients with high-risk ROP type 1. METHODS: In this retrospective clinical study patients diagnosed between December 2013 and January 2018 with high-risk pre-threshold ROP type 1 and treated with intravitreal bevacizumab were selected. All patients were treated following the established protocol at our centre. Those patients with less than three-year follow-up were excluded. Visual acuity and cycloplegic refraction in the last visit were registered. Treatment efficacy was defined as the absence of retreatment with intravitreal anti-VEGF or laser during follow-up. RESULTS: A total of 38 infants (76 eyes) were included in the analysis. Twenty infants (40 eyes) completed visual acuity testing. Mean age was 6 years (IQR: 4-9). Median visual acuity was 0.8 (IQR: 0.5-1). Thirty-four eyes (85%) had good visual acuity (greater than or equal to 0.5). Thirty-seven patients (74 eyes) had cycloplegic refraction measured. Median spherical equivalent at the last visit was +0.94 (IQR: -0.25; 1.88). Treatment success rate was 96.05%. CONCLUSION: Intravitreal bevacizumab treatment showed good functional outcome in patients with high-risk ROP type 1. In our study, good response to treatment was observed with a success rate over 95%.

Choroidal occlusive vasculopathy after intraarterial chemotherapy: MRI findings.

PURPOSE: To evaluate magnetic resonance imaging (MRI) findings in patients suffering choroidal occlusive vasculopathy (COV) after intra-arterial chemotherapy (IAC) for retinoblastoma. METHODS: A retrospective study of 37 eyes of 34 patients receiving IAQ between 2016 to 2021 as primary or secondary treatment for retinoblastoma was conducted. Twenty-two patients received systemic chemotherapy with carboplatin, vincristine and etoposide. The rest received IAC as primary treatment. The drugs administered were melphalan (3-4mg), carboplatin (40mg) plus topotecan (20mg). The patients were examined under general anaesthesia every month to observe tumor regression and possible complications of the treatment. For the patients with COV an MRI was obtained to analyse the choroidal thickness and axial ocular length. RESULTS: A COV was observed in 5 of the 37 eyes receiving IAC (13,51%), all of them with a complete sectorial choroidopathy not sparing the fovea (grade 2). In 4 of the 5 patients the choroidal thickness was decreased and in three cases the size of the eye which presented COV was clearly smaller than the contralateral eye. Tumor control was archived in all 5 patients. CONCLUSION: In our cases COV was associated with reduction of thinning of choroid and eye length in the MRI. A new classification maybe needed to correlate better with the severity of the complication affecting the fovea. Although early results generally are favorable to the use of IAC, longer follow up and scrupulous documentation of side effects will be necessary to know the true role of IAC for retinoblastoma.

Clinical characteristics and OCT analysis of a case series of posterior microphthalmos. / Características clínicas y análisis de OCT de una serie de casos de microftalmos posterior.

Posterior microphthalmos is a rare condition that can be found in paediatric patients with increased farsightedness and reduced vision. A retrospective study is presented of 5cases of posterior microphthalmia aged between 4 and 13 years. The following parameters were obtained: visual acuity, cycloplegic refractive error, optical biometry, slit lamp examination, intraocular pressure, and ocular ultrasound. The refraction, axial length and average visual acuity was+15.35 Dp, 16.20mm and 0.13, respectively. The fundus was examined, optical coherence tomography was performed, and also retinography and fluorescein angiography in one case. In all cases, the absence of foveal depression and different morphotypes of the papillo-macular fold were observed in the tomography. In the absence of a specific treatment, the appropriate detection, management, and monitoring of this disease is important to improve and maintain the vision of patients and recognise possible complications.

Elevated intraocular pressure in paediatric cataract surgery in a reference centre. / Presión intraocular elevada en catarata pediátrica intervenida en un centro de referencia.

OBJECTIVE: To study elevated postoperative intraocular pressure (PIOP) after paediatric cataract surgery in a reference centre and to compare the results obtained with the most relevant world literature. MATERIALS AND METHODS: A retrospective observational study was conducted, collecting information from clinical records of 99 patients (142 eyes) operated on due to unilateral or bilateral paediatric cataracts between 2000 and 2008. RESULTS: The proportion of eyes with PIOP≥20mmHg and bilateral cataracts was higher, 79.3%, than the proportion of eyes with PIOP≥20mmHg and a unilateral cataract, 20.7% (P=.032). The proportion of eyes with PIOP≥20mmHg between the eyes with cataract surgery before one month of age was higher, 50%, than between the eyes in which the cataract surgery was performed after one month of age, 17.2% (P=.009). PIOP values≥20mmHg were associated with a lower best corrected visual acuity at 5 years after cataract surgery (P=.020). The proportion of eyes with PIOP≥20mmHg and without intraocular lenses was higher, 69%, than the proportion of eyes with PIOP≥20mmHg and intraocular lenses, 31% (P<.001). CONCLUSIONS: A PIOP>20mmHg was observed in 20.4% of eyes in a 5-year follow-up period, appearing more frequently in eyes with bilateral cataract than unilateral, and in aphakic eyes more than pseudophakic eyes. Elevation of the PIOP was associated with the performance of cataract surgery at early ages.

Clinical and histopathological features of choroidal melanoma-related enucleated eyes in a Spanish tertiary hospital. / Características clínicas e histopatológicas de ojos enucleados por melanoma uveal en un hospital terciario en España.

OBJECTIVE: To study clinical and pathological variables leading to a poor prognosis in a sample of uveal malignant melanoma patients who required eyeball enucleation as final treatment approach. All patients were seen and treated in the same public tertiary hospital in Madrid (Spain) within a 6-year time-period. MATERIALS AND METHODS: Longitudinal observational retrospective study. The presence of clinical and pathologic factors known to be linked to poor prognosis, as well as other features, was assessed in 30 malignant melanoma: 20 de novo-enucleated malignant melanoma eyes (group A), and 10 in eyes that received radiotherapy prior to enucleation (group B). The diagnostic reliability of magnetic resonance imaging was assessed by comparing it with the histology results (gold standard) as a means to detect scleral and extra-scleral extension. RESULTS: Tumour size, Bruch's membrane rupture, scleral infiltration, and distance to the optic nerve were the most decisive factors for a poor prognosis in the study sample. In 93% of cases the condition was under control, with a 6% incidence rate of metastatic spread and a 100% rate of overall survival for a mean follow-up period of 3±1.5 (range 1.2-6) years. In the study population, the sensitivity of the magnetic resonance imaging to detect scleral infiltration was 27%, which increased to 100% for identifying extra-scleral involvement. CONCLUSIONS: The analyses of the clinical and pathological data collected within the framework of this study justify enucleation as the treatment of choice for the patients of this study. Magnetic resonance imaging was not found to be an optimum screening method to detect scleral infiltration in this study sample.

[Nosocomial outbreak of epidemic keratoconjunctivitis in a neonatal intensive care unit]. / Brote nosocomial de queratoconjuntivitis epidémica en una unidad de cuidados intensivos neonatal.

OBJECTIVE: To describe an epidemic nosocomial outbreak of keratoconjunctivitis affecting at least 43 people in a Neonatal Intensive Care Unit in Madrid, between May and October 2002, perform epidemiologic research and determine preventive measures to prevent new outbreaks. METHODS: Description of the outbreak, clinical case definition, microbiologic and epidemiologic research through the use of questionnaires. Analysis of the incidence of subepithelial infiltrates 1 year after infection and the use of topical corticosteroid therapy. RESULTS: The epidemic began in the Neonatal Service, with a pair of twins being found as the initial focus. Dissemination occurred to about 24 workers of the unit, and 19 workers from other services. The microbiologic diagnosis confirmed adenovirus in 10 conjunctival smears and one serologically, with the remainder obeying clinical and epidemiological criteria of such infection. Infected patients using topical corticosteroids had a higher incidence of infiltrates 12 months later than those not using such agents (p=0.003 in Fisher test). CONCLUSIONS: Epidemic keratoconjunctivitis occurs frequently, is highly contagious and has possible long-term sequelae, necessitating the use of preventive measures to avoid spread and new outbreaks.

[Bilateral sixth nerve and left third nerve palsy after head trauma]. / Parálisis del VI par bilateral y III par izquierdo postraumático.

CASE REPORT: To describe a case of combined bilateral cranial nerve palsy of traumatic origin. To determine the lesions that produce the symptoms is useful to define the final prognosis and the best treatment. DISCUSSION: We report the case of a patient who developed a bilateral sixth nerve and left third nerve palsy after head trauma. The underlying lesion was a diffuse axonal injury. After an observation period during which no spontaneous improvement occurred, we administered botulinum toxin with a successful clinical result. Bilateral combined traumatic cranial nerve palsies are rare. When a diffuse axonal injury is present, the chance of spontaneous resolution is poor.

[Photic maculopathy and iris damage in a psychotic patient]. / Maculopatía solar y lesiones del iris autoinducidas en paciente psicótico.

CASE REPORT: A 37-year-old psychotic patient inflicted injuries to his skin and eyes in the context of an interpretational delirium with aesthetic content. He used magnifying glasses to concentrate sunlight and suffered burns to his arms and face. In the eyes, these resulted in massive iridial atrophy with loss of the sphincteric function, photic maculopathy and peripheral retinal coagulation. The macular lesion resolved spontaneously although he did not recover visual acuity. DISCUSSION: This is the first reported case of ocular self-injury secondary to sunlight. It is also the first case reporting retinal photo-coagulative lesions secondary to sunlight.

Complicated uveitis in late onset juvenile idiopathic psoriatic arthritis.

CASE REPORT: A 6 year-old girl with juvenile psoriatic arthritis (JPsA) and bilateral complicated anterior uveitis developed several ocular complications that required 5 surgical procedures. Despite the aggressive course of ocular inflammation, her visual acuity remained good. Arthritis (main criterion for the diagnosis of JPsA) appeared years after ocular involvement. She showed a good anti-tumour necrosis factor initial response. DISCUSSION: The definitive diagnosis of JPsA was established years after the onset of symptoms. In addition, the patient maintained a good visual acuity, despite its complicated disease course. Finally, she showed a good clinical response to adalimumab.

Genetic analysis in retinoblastoma and peripheral blood correlation.

OBJECTIVE: To determine the importance of intratumoral genetic analysis in the diagnosis of germ-line mutations in patients with retinoblastoma. To underline the importance of performing these genetic tests in every case of retinoblastoma. METHOD: Intratumoral genetic analysis of RB1 mutation was performed on 17 enucleated eyes that were non-responsive to conservative treatment. Patients had no family history of retinoblastoma, and lesions were always single. The identified mutations were then also studied in peripheral blood analysis. RESULTS: There were 12 (70.6%) cases with positive results in intratumoral analysis. In 8 cases (47.1%) mutation of both RB1 alelli were detected, and in 4 (23.5%) cases only one allele was found mutated. In 5 patients (29.4%) no mutation was identified. In the first hit, mutations comprised 7 frameshift or nonsense and 2 splice, whereas in the second hit, one splice mutation, 2 nonsense and 8 loss of heterozygosity were identified. Among 6 patients where intratumoral analysis detected a single mutation associated with a loss of heterozygosity, the peripheral blood analysis was able to detect the same mutation in 3 cases (50%). CONCLUSIONS: Intratumoral genetic analysis of sporadic retinoblastoma can detect germ-line mutations. These patients are at higher risk of bilateralization and development of second tumors or trilateral retinoblastoma. Genetic screening is recommended in every patient diagnosed with retinoblastoma.

[Genetic analysis results of patients with a retinoblastoma refractory to systemic chemotherapy]. / Resultados del analisis genético de los pacientes con retinoblastoma resistente a quimioterapia sistémica.

OBJECTIVE: To analyze the genetic alterations identified in the RB1 gene in retinoblastoma patients who do not respond to systemic chemotherapy. METHODS: A genetic analysis was performed on 115 patients with retinoblastoma, 40 of whom had received systemic chemotherapy, and 29 of them had bilateral disease. Descriptive and retrospective study. Non-responders were considered as patients who are finally enucleated. RESULTS: Patients with deletion type mutations are those with less preservation of the eyeball (Pearson Chi-square, P=.055). Patients with an impaired nonsense-frameshift type are more likely to preserve the eyeball. Of the 3 patients who had undergone bilateral enucleation, 2 of them had deletions and one missense alteration. Survival analysis (Kaplan-Meier curve) shows that patients with deletion type mutations are more resistance to chemotherapy, are suffering higher rates of enucleation, and for a shorter period of time (log rank [Mantel-Cox] with a significance level of P=.053), which are also associated with increased rate of being bilateral. CONCLUSIONS: Patients with a genotype show increased resistance to chemotherapy should be evaluated more closely and treated with various therapeutic weapons early. Patients that have deletions in the RB1 gene are at increased risk of chemoresistance. It is likely that other genetic alterations other than RB1 gene may be related to tumor aggressiveness and treatment resistance.

[Diode laser photocoagulation for zone I pre-threshold retinopathy of prematurity]. / Fotocoagulación con láser de diodo para la retinopatía del prematuro pre-umbral en zona I.

PURPOSE: To assess the efficacy of diode laser photocoagulation for prethreshold retinopathy of prematurity (ROP) in zone I. METHODS: We considered ROP in zone I that having avascular retina presenting at least 30 degrees of circumferential extent in that zone (centered in the optic disk with a radius of twice the distance from disk to fovea). The avascular retina was photocoagulated with diode laser if ROP showed <> disease in junction with any zone of fibrovascular proliferation (prethreshold stage). Noncontiguous applications were used. RESULTS: 10 eyes from 5 infants were treated, obtaining a total regression of the disease in 100% of them. All the children were followed for at least 12 months. In the postoperative period a transitory worsening of proliferation was noted in 70% of eyes, sometimes with formation of <> in the temporal retina (60% of eyes). There were no complications derived from this treatment. CONCLUSIONS: Diode laser photocoagulation is highly effective and safe in the treatment of pretheshold ROP in zone I, and we strongly recommend this new strategy for its management.

[Interferon alpha and infantile orbital hemangioma]. / Interferón-alfa y hemangiomas orbitarios infantiles.

OBJECTIVE: To determine the efficacy and safety of interferon alpha therapy for the treatment of infantile periorbital hemangiomas associated with visual impairment. METHODS: Retrospective study of 4 patients diagnosed of orbital hemangioma during infancy. All of them were treated with interferon alpha 2b at doses of 3 million U/m2, administered once daily by subcutaneous injection, at least during 3.5 months. The lesions were compared through clinical evaluation and diagnostic imaging (echography, CT and MRI) before, during and after treatment, estimating the percentage of lesion reduction in relation to the initial size. RESULTS: In 3 cases, a 95% volume reduction was detected, and greater than 50% in the other one. Spastic diplegia was detected in a child during treatment, but resolved without persistent neurological deficits when discontinued. Alterations in plasmatic lipid profile were detected in one patient. CONCLUSION: Interferon alpha can be a valuable treatment for periorbital hemangiomas of infancy; even though, adverse effects can be clinically significant.

[Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 gene and the presence of pineal gland cysts]. / Retinoblastoma trilateral. Correlación de las alteraciones genéticas del gen RB1 y la presencia de quistes de la glándula pineal.

OBJETIVE: To determine the correlation between the presence of genetic anomalies identified in the RB1 gene and the development of trilateral retinoblastoma. METHOD: No patients with primitive neuroectodermal tumour (PNET) were identified out of a total of 206 patients, but there were 17 cases of pineal cysts, of which 11 had a genetic study. RESULTS: Of the 11 patients who had a genetic study performed, the anomaly in the germinal line was identified in 8 cases, which was equivalent to 100% of the bilateral retinoblastomas, and 25% of the unilateral ones. It is more common to find a germinal mutation in patients with bilateral disease (P=.024). There are no significant differences in the type of anomaly identified, although the nonsense-frameshift type is more frequent in cases with bilateral involvement. Identification of the genetic anomaly is more frequent in patients who have pineal cysts (Fisher test; P=.490). Nine of the 17 patients received systemic chemotherapy (52.29% of the cases), which could be able to prevent the development of PNET. Although a certain trend was observed in all the mentioned parameters, there was a relationship between, the presence of pineal cysts and bilateral disease (Pearson Chi X2: P=.191), a known family history (Fisher test; P=.114) and age of early diagnosis (Fisher test; P=.114). There were no significant differences in the mutation type identified. CONCLUSIONS: Considering pineal cysts as a pre-malignant form of pinealoblastoma, we found a relationship between the germinal line mutation of the RB1 gene and the cases with bilateral or unilateral retinoblastoma.

[Reliability of retinal imaging screening in retinopathy of prematurity]. / Fiabilidad en el cribado de la retinopatía del prematuro mediante el análisis de retinografías.

INTRODUCTION: The retinopathy of prematurity (ROP) is a potentially avoidable cause of blindness in children. The advances in neonatal care make the survival of extremely premature infants, who show a greater incidence of the disease, possible. The aim of the study is to evaluate the reliability of ROP screening using retinography imaging with the RetCam 3 wide-angle camera and also study the variability of ROP diagnosis depending on the evaluator. MATERIAL AND METHODS: The indirect ophthalmoscopy exam was performed by a Pediatric ROP-Expert Ophthalmologist. The same ophthalmologist and a technician specialized in digital image capture took retinal images using the RetCam 3 wide-angle camera. A total of 30 image sets were analyzed by 3 masked groups: group A (8 ophthalmologists), group B (5 experts in vision), and group C (2 ROP-expert ophthalmologists). RESULTS: According to the diagnosis using indirect ophthalmoscopy, the sensitivity (26-93), Kappa (0.24-0.80), and the percent agreement were statistically significant in group C for the diagnosis of ROP Type 1. In the diagnosis of ROP Type 1+Type 2, Kappa (0.17-0.33) and the percent agreement (58-90) were statistically significant, with higher values in group C. CONCLUSION: The diagnosis, carried out by ROP-expert ophthalmologists, using the wide-angle camera RetCam 3 has proved to be a reliable method.

[A protocol for the treatment of retinopathy of prematurity in Spain]. / Protocolo de tratamiento de la retinopatía del prematuro en España.

OBJECTIVE: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. MATERIAL AND METHOD: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. RESULTS: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. CONCLUSIONS: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.

Screening program for retinopathy of prematurity in Spain.

OBJECTIVE: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. MATERIALS AND METHODS: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. RESULTS: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. CONCLUSIONS: It is important to have a common working protocol in the screening of ROP to improve the action and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.

Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation.

OBJECTIVE: To describe the prevalence of congenital anophthalmia and microphthalmia in Hospital Universitario La Paz, and to identify associated risk factors and evaluate cosmetic results in treated and nontreated patients. METHODS: A retrospective, descriptive, cross-sectional study of patients treated with orbital expanding techniques (cases) and nontreated patients (controls) was carried out as a comparative case series study. A total of 36 patients with unilateral or bilateral anophthalmia or microphthalmia as main diagnosis were included; 52 epidemiological and management variables for each patient were analyzed. The study evaluated orbital growth and facial symmetry. RESULTS: The overall cosmetic result in the study's group of patients was satisfactory: 66.7% showed good or very good orbital growth, and 75% showed good or very good facial symmetry. Controls had better cosmetic outcome but showed more cataracts (P = 0.05), inferior colobomas (P = 0.026), and family history (P = 0.056) than the cases. Controls also showed significantly better orbital growth (P = 0.042) and facial symmetry (P = 0.014) than the cases. CONCLUSION: This study suggests that the mere presence of a globe (controls) still provides better orbitofacial development than the artificial stimulation (cases) currently available for patients with congenital anophthalmia and microphthalmia, who receive internal and external orbital rehabilitation.