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Resumen La displasia septooptica (DSO) es una entidad congenita, rara, de causa desconocida, con una triada caracteristica que incluye hipoplasia de nervio optico, anomalias en la funcion hipofisaria y defectos en la linea media cerebral, ademas de un amplio espectro de manifestaciones y asociaciones. Se presenta una serie de cinco casos clinicos, de los cuales cuatro presentaron la triada clasica completa. Todos mostraron gran variedad de alteraciones oftalmologicas, endocrinologicas y neurologicas. Dentro del espectro oftalmologico de la DSO, destacan la hipoplasia papilar y las alteraciones de la motilidad ocular (nistagmos estrabismo). Tambien pueden aparecer otras menos frecuentes, como son alteraciones pupilares, microftalmia y coloboma. Ante la sospecha de DSO, conviene realizar una resonancia magnetica cerebral y una interconsulta con el servicio de pediatria para completar el estudio e indicar, si fuera preciso, tratamiento sistemico.

Purpose To report two clinical cases of Alström syndrome (AS) with novel pathogenic variant of the ALMS1 gene not previously reported. Case description Patient 1 was a 6-year-old female presenting with poor vision. Ophthalmic examination only showed a visual field (VF) with diffusely decreased sensitivity in both eyes. At age of 15, vision and ophthalmic examination remain stable. Patient 2 was a 2-year-old male with poor vision, photophobia, and nystagmus. ERG showed a severe decrease in cone and rod responses. At age of 6, his vision is lower than 0.1 (decimal scale) and VF is severely constricted. Both of them presented with dilated cardiomyopathy in their first's months of life and patient 2 developed sensorineural deafness along with follow-up. Research genetic testing revealed two loss-of-function heterozygous genetic variants in the ALMS1 gene in both patients, so the diagnosis of AS was made. Conclusions AS is a rare disease caused by pathogenic variants of ALMS1 gene that causes ocular manifestations in almost 100% of patients. There are many genetic variants of AMLS1 described, but novel pathogenic variants can still be found. Ophthalmologists play an important role in the diagnosis, and AS should be included in the differential diagnosis when retinal dystrophy is suspected.

The case is presented of a 3-month-old infant diagnosed with microphthalmos and orbital cysts. Magnetic Resonance Imaging revealed a bilateral microphthalmia with a moderate right cyst and a severe left cyst. Visual potential of the right eye was uncertain. Non-surgical treatment was decided. At the age of 2 years old, physical examination showed a significant decrease of the cysts and visual acuity of hand movements due to the residual vision of his right eye. Microphthalmos with orbital cyst is a rare congenital anomaly. Cysts tend to enlarge with time. At the moment, no standard protocol for the management of this pathology has been described. Unlike in our patient, visual acuity in these patients is usually of no-light perception. The observation could be an alternative in severe cases, since there is a possibility of spontaneous reduction, displacement, or regression of the cysts.

Optical coherence tomography (OCT) software is used to classify abnormality of macular thickness by colour category based on reference data from adult series. We assessed the impact of using paediatric reference thickness values for macular thickness instead of adult reference values. Cross-sectional study. Primary and tertiary healthcare setting. Out of 140 healthy participants aged 5 to 18 years, 126 were eligible, 83% from European origin. Following a dilated eye examination and cycloplegic refraction, participants underwent macular scanning with OCT (Topcon 3D OCT-2000). Macular thickness paediatric reference values were recorded by spherical equivalent (SE) and sex, and the specific agreement between paediatric and adult reference values below or equal to percentile 5 and above percentile 95 was estimated. The absolute interocular differences for all macular parameters were determined. Multivariate regression analysis confirmed statistically independent positive associations between SE and average thickness, total volume, and temporal and inferior outer quadrants (all p values ≤ 0.003). The analysis also revealed higher values in males for average thickness, central thickness, and all inner macula quadrants (all p values ≤ 0.039). The use of the adult database only detected 49% of the extreme values (≤ p5 and > p95) in our paediatric sample. The 95th percentile limits for absolute interocular differences for all macular parameters ranged from 12 to 17 μm. OCT-based macular reference values for paediatric SE and sex improve detection of children with abnormal macular thicknesses. Interocular differences exceeding standard references for macular parameters should be considered for further examinations.

Introduction Optical coherence tomography (OCT) has become an essential tool in paediatric ophthalmology. However, none of the currently available OCT devices include any kind of normative database for the paediatric population, which can lead to important interpretation errors. Objective To review the paediatric OCT normative databases. Material and methods The applications and implications of the use of paediatric OCT normative databases are reviewed. Results The paediatric normative databases that have been published so far in scientific literature with different OCT devices for Spanish and European population are presented. Conclusions The knowledge and interpretation of paediatric OCT normative databases in our daily clinical practice is crucial in order for the correct interpretation of OCT thickness maps.

Resumen Introduccion La tomografia de coherencia optica (OCT) se ha convertido en una herramienta imprescindible en las consultas de oftalmologia pediatrica. Sin embargo, las OCT disponibles en la actualidad no incluyen ninguna base de datos normativa para poblacion pediatrica, lo que puede conllevar errores importantes de interpretacion. Objetivo Realizar una revision bibliografica sobre las bases de datos normativas para OCT realizadas en poblacion pediatrica. Material y metodos Se revisan las aplicaciones e implicaciones del uso de las bases de datos normativas pediatricas para OCT. Resultados Se referencian varios estudios realizados para extraer estas bases de datos con diferentes modelos de OCT en poblacion espanola y europea con el fin de disponer de ellos de manera resumida. Conclusiones En nuestra practica clinica diaria es muy importante el conocimiento y manejo de las bases de datos normativas pediatricas para la correcta interpretacion de los mapas de grosores de OCT.

To determine changes in macular thickness profile according to gestational age (GA) and to assess interocular symmetry in the macula of children born very preterm.In this cross-sectional study of preterm (n = 106) and term-born (n = 49) children 5-8 years of age at time of examination, optical coherence tomography was used to measure macula thickness as described in the ETDRS study. Statistical analyses included stratified and multivariable analyses.Foveal minimum thickness increased with decreasing GA (P for trend,0.001; 254.7 ± 32.8 μm for children born at 24-25 weeks and 193.2 ± 32.8 μm in term-born children). Inner and outer area thickness differed for term and preterm children, but did not vary with the degree of prematurity (inner area, 267.0 ± 11.0 μm for 24-25 weeks' GA and 305.4 ± 11.8 μm for term children [P0.01]; outer ring, 305.5 ± 10.4 μm in extreme preterm and 271.0 ± 10.4 μm in term children [P0.01]). Interocular asymmetry in preterm children was not significant for most areas; the largest interocular difference was found in the central zone (16.3 ±16.6 μm).In our study cohort, children born very preterm examined at school age compared to term born children had greater central thickness with decreased foveal pit, decreased inner ring, and increased thickness of the outer ring. They did not show greater interocular asymmetry.

To investigate the association between the ganglion cell complex (GCC) thickness at early school-age and prematurity and other neonatal factors.Cross-sectional study. The sample included very preterm children with gestational age (GA) below 32 weeks or birthweight below 1500 g enrolled in a follow-up program (n = 101) and a comparison group of term-born children (n = 49). Ganglion cell complex (GCC) thickness was measured at 4-8 years using high-quality optical coherence tomography (OCT) images. Data on neonatal and postnatal features were extracted from clinical records; analyses included mixed linear models.Ganglion cell layer (GCL) and retinal nerve fiber layer (mRNFL) were thicker in term than in preterm born children (2.9 μm and 2.4 μm respectively, p 0.001). Within the preterm group, lower GA was associated with a decrease in total GCL (0.7 μm per week, p 0.001). Being small for GA was associated with further thinning in both layers (1.4 and 2.8 µm). Postnatal corticosteroids therapy and severe brain lesion were associated with thinning in the total GCL of 6 µm (p 0.001) and 4.1 µm (p = 0.002), respectively, and shock was associated with thinning in total mRNFL of 6 µm (p 0.001).Lower GA or birthweight are associated with thinning of GCC layers. When performing an OCT examination at school-age and a decrease in GCC thickness is observed, it may be relevant to ask about a history of prematurity, and further enquire about neonatal shock, postnatal corticosteroids therapy or severe brain lesion that are related to additional decrease in GCC thickness.

Importance Optical coherence tomography software classifies abnormality of macular ganglion cell-inner plexiform layer thickness and macular retinal nerve fibre layer thickness based on adult series. Background We assessed the impact of using paediatric reference macular ganglion cell complex values instead of adult reference values. Design Cross-sectional study. Primary and tertiary health-care setting. Participants Out of 140 healthy participants aged 5 to 18 years, 90% were eligible. Methods Following a dilated eye examination and cycloplegic refraction, participants underwent optical coherence tomography ganglion cell scans (Topcon 3D OCT-2000; Topcon Corporation, Tokyo, Japan). Right eye measurements for superior, inferior, and total layer thickness and spherical equivalent were reported, together with age, sex and origin. Main outcome measures Paediatric reference values by age and spherical equivalent were produced, and the specific agreement between paediatric and adult ganglion cell complex reference values below or equal to percentile 5 was estimated. Results The multivariate analysis confirmed a positive association between spherical equivalent and macular ganglion cell-inner plexiform layer thickness, and between age and macular retinal nerve fibre layer (five out of six regression coefficients P values were ≤ 0.03). Specific agreement was 25% for ganglion cell-inner plexiform layer thickness and > 80% for macular retinal nerve fibre layer. Adult-based software identified low ganglion cell values in one in seven children compared to paediatric reference values (0.8% vs 5.5%, P = 0.031). Conclusions and relevance The availability of optical coherence tomography ganglion cell complex reference values for paediatric age and spherical equivalent groups can be used to improve detection of children with low cell layer thickness.

Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.

Background Assessment of interobserver reproducibility and interocular symmetry using optical coherence tomography (OCT)–based measurements of the macular ganglion cell complex (GCC) in healthy children facilitates interpretation of OCT data. We assessed the interobserver reproducibility and interocular symmetry of GCC and evaluated candidate determinants. Methods This was a cross-sectional study performed in a primary and tertiary health-care setting. A total of 126 healthy participants aged 5 to 18 years were eligible. GCC scans were performed by 4 operators using the Topcon 3D OCT-2000 device. Intraclass correlation coefficients (ICCs) were used to estimate reproducibility and symmetry. Cut-off points for symmetry were defined as the 95th percentile of the absolute interocular difference for 6 GCC parameters. Percentile distributions of interocular difference were generated based on age and difference in absolute interocular spherical equivalent (SE). Results The reproducibility ICC ranged from 0.96 to 0.98 for all 6 GCC parameters. Cut-off points for interocular symmetry of the superior and inferior quadrants and total macular retinal nerve fibre layer thickness (mRNFL) and macular ganglion cell layer-inner plexiform layer thickness were 3.5, 4.5, 3.0, 3.0, 2.5, and 2.5 μm respectively. A positive association was observed between the absolute interocular difference of SE and superior and total mRNFL symmetry values (p = 0.047 and p = 0.040, respectively). Conclusions OCT measurements of GCC in healthy children show excellent reproducibility. Interocular differences in SE should be assessed when mRNFL differences exceed the 95% cut-off. These findings can contribute to establish reference values for interocular symmetry in paediatric GCC parameters.

We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, in silico and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the MTO1 gene (NM_001123226:c.1510C>T, p.R504C, and c.1669G>A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant.

Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.La incontinencia pigmenti es un trastorno neurocutàneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutànea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediàtrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con làser, con buenos resultados, y se consiguió estabilizar la visión.

We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.

Resumen Proposito Evaluar los resultados y complicaciones a largo plazo de los dispositivos de drenaje para glaucoma (DDG) en pacientes pediatricos (0-15 anos). Material y metodos Estudio retrospectivo de cohortes de 17 DDG implantadas desde julio de 1994 hasta abril del ano 2007 en 14 pacientes (17 ojos). En dos pacientes (3 ojos) se implanto un DDG de Molteno (DDGM) y en 12 pacientes (14 ojos) un DDG de Ahmed (DDGA). Se han recogido datos demograficos y relacionados con la afeccion glaucomatosa de cada paciente. Se ha estudiado el porcentaje de exito de la cirugia, asi como el tiempo durante el cual se ha mantenido controlada la tension desde el implante del dispositivo y las complicaciones derivadas de este. Resultados De los 14 pacientes, nueve (64,28%) presentaban glaucoma congenito, y cinco (35,71%) glaucoma afaquico secundario a cirugia de catarata. La media de la presion intraocular (PIO) preoperatoria fue de 29,82 mmHg (DS: 6,98). La media de la PIO posquirurgica fue de 14,05 mmHg (DS: 7,57). La media del seguimiento ha sido de 3,14 anos (3 meses-8,3 anos). Se ha considerado como exito mantener, en las dos ultimas revisiones, la PIO igual o por debajo de 21 mmHg sin signos de progresion de glaucoma con o sin uso de farmacos hipotensores topicos, sin necesidad de cirugias de glaucoma adicionales y sin la aparicion de complicaciones devastadoras para la vision. La probabilidad acumulada de exito segun el analisis de Kaplan Meier ha sido de 76, 63 y 55% a los 6 meses, 1-3 anos y 4-8 anos respectivamente. El 41,17% de los DDG fracasaron (7/17). Conclusiones Los DDG son una buena opcion quirurgica para los glaucomas refractarios pediatricos cuando otros procedimientos quirurgicos han fracasado o tienen un mal pronostico.

The most frequent ophthalmic lesions associated to neurofibromatosis type 1 include iris Lisch nodules, optic nerve gliomas, and neurofibromas located on the eyelid, conjunctiva or orbit. Glaucoma is much less frequent, and it may be difficult to diagnose and treat. We present two patients with neurofibromatosis type 1 and associated congenital glaucoma. In case 1, the glaucoma was present at birth, and was the first symptom of the disease. It was surgically treated by means of an Ahmed glaucoma valve implantation, with good intraocular pressure (IOP) control after 13 months of follow-up. In case 2, the glaucoma appeared at 5 months old, and a trabeculectomy was initially performed; it failed 2 years later and an Ahmed glaucoma valve was then implanted, with adequate IOP control after 7 years of follow-up. Both children were males, and in both cases there were orbital neurofibromas and a dysplasia of the greater wing of the sphenoid of the same side. In case 2, orbital enlargement surgery was also performed at 4 years old. Congenital glaucoma management in the context of neurofibromatosis is very complex due to the frequent association of orbital and eyelid tumors and bone dysplasia, and its prognosis is usually poor. We present two cases in which good control of IOP has been achieved with Ahmed glaucoma valve implantation after 13 months and 7 years of follow-up.

To the Editor: Blau syndrome (BS) is a dominant inherited autoinflammatory disease caused by gain-of-function NOD2 mutations and characterized by the triad of granulomatous arthritis, dermatitis, and uveitis.1 We identified a 17-year-old patient with a clinical diagnosis of BS (see pedigree in Fig 1, A, and a complete clinical description in this article’s Online Repository at www.jacionline.org). Sanger NOD2 sequencing using DNA from total leukocytes did not detect disease-causing mutations (Fig 1, B). A careful analysis of Sanger chromatograms revealed at c.1001 position (Ref Seq: {"type":"entrez-nucleotide","attrs":{"text":"NM_022162.1","term_id":"11545911","term_text":"NM_022162.1"}}NM_022162.1) a very small peak of adenine associated with a subtle decrease in the wild-type allele (Fig 1, C). This potential c.1001G>A transition might provoke the appearance of the p.Arg334Gln NOD2 variant, which is a well-known BS-causing mutation.1–4 A selective allele amplification was reasonably ruled out by the heterozygous c.802C>T transition in the same amplicon (Fig 1, D), which is a common polymorphism of the gene (rs2066842; allele frequency of 13% in the 1000 Genomes Project Phase 1). These data suggested the presence of a somatic NOD2 mosaicism. To address this issue, we performed targeted deep NOD2 sequencing using DNA extracted from hematological and nonhematological tissues (see this article’s Methods section in the Online Repository at www.jacionline.org). These analyses detected the p.Arg334Gln NOD2 mutation in all analyzed samples, with variable frequencies (4.9% to 11.0%) depending on the cells’ origin (Table I). The NOD2 mutation was not detected in the patient’s parents, confirming its de novo nature. FIG 1 A, Family’s pedigree. B, Genomic organization of the NOD2 gene (top) and scheme of the pair of primers designed to analyze the exon 4 (below) (green arrows represent the pair primers used for PCR amplification and Sanger sequencing, while white ... TABLE I Summary of NOD2 genotyping performed in different family members The patient’s phenotype was compared with those detected in patients with BS carrying germline NOD2 mutations. Differences were detected only in the joint involvement, which included the number of affected joints (oligoarthritis in our patient in place of polyarthritis in most patients with germline mutations), the type of affected joints (absence of involvement of small joints in our patient), and the absence of tenosynovitis and joint deformities in our patient (see Table E1 in this article’s Online Repository at www.jacionline.org). Genetic mosaicism describes an individual with 2 or more cell types with different genotypes that derive from the same zygote. This implies the occurrence of de novo, postzygotic mutational event(s) that may occur either during embryogenesis or after birth.5 Somatic mosaicism has been extensively studied in cancer, but its role in Mendelian inherited diseases has scarcely been reported. The arrival of next-generation sequencing technologies is providing evidence of its relevance in this field. Among the monogenic autoinflammatory diseases, somatic mosaicism has been well established in cryopyrinopathies and in stimulator of interferon genes-associated vasculopathy with onset in infancy.6–8 In the present work, the use of next-generation sequencing technologies enabled us to detect a well-known NOD2 mutation as a somatic mutation at low frequencies in all analyzed tissues. To our knowledge, this evidence represents the first description of somatic NOD2 mosaicism in the pathogenesis of BS, thus expanding the number of monogenic diseases in which this mechanism can play an important role. This evidence also enabled us to confirm the BS diagnosis and support the idea that a de novo mutational event affecting the NOD2 gene occurred in this patient, probably at an early stage during embryogenesis because tissues from different embryonal layers are equally affected. The involvement of somatic NOD2 mosaicism in BS may have relevant clinical consequences. During the past few years, the clinical diversity of BS has increased as the number of diagnosed patients has increased. Thus, we currently know that some patients never developed some of the symptoms of the classical triad, whereas other patients developed symptoms beyond the triad.4,9 The phenotype of the patient described here resembles that detected in patients with BS affected exclusively with the triad, although differences in the articular involvement should be highlighted. Our patient developed seronegative oligoarthritis affecting exclusively large joints, with no tenosynovitis or joint deformities, whereas most patients with BS carrying germline NOD2 mutations suffered from polyarthritis (95% in the International BS Registry), always associated with tenosynovitis, involving both large and small joints, which often progressed to joint deformities (42.8% in the Spanish BS cohort).1,4,9 It could be speculated that the apparent less severe articular disease observed in our patient could be a direct consequence of the low-level somatic mosaicism. The description of the joint disease in novel patients carrying somatic NOD2 mosaicism will probably confirm or invalidate our observation. Sporadic patients with BS with negative NOD2 analysis have been previously reported.1,3 This scenario is similar to that previously described for cryopyrinopathies, in which the use of different genetic technologies finally detected somatic NLRP3 mosaicism.6,7 The evidence shown here supports the possibility that “mutation-negative” patients with BS could actually be carriers of somatic NOD2 mosaicism, and its definitive diagnosis probably relies on the use of novel genetic technologies. In our experience, targeted deep sequencing is probably the most efficient method to identify low-level mosaicism and will be the recommended method to address this issue in future studies. In addition, it could be hypothesized that the candidates in whom to evaluate the presence of somatic NOD2 mosaicism had probably been previously diagnosed with juvenile idiopathic arthritis (JIA), especially in the forms of systemic-onset and seronegative polyarthritis and oligoarthritis. Future studies with selected candidates from these JIA subgroups will provide evidence regarding the validity of this hypothesis. The tissue distribution of the mosaicism could vary between different patients and is often difficult to analyze comprehensively. The potential tranmission of the somatic mutation to the offspring relies on its presence in the germ cells. In the case of patients with BS with germline NOD2 mutation, this probability is 50%. In our patient, it was not possible to calculate this probability because, for ethical reasons, we were unable to analyze the degree of gonadal mosaicism. In the case that the vertical transmission occurred, the NOD2 mutation will be present at the first zygote. Consequently, the child will carry a germline mutation and it is conceivable that his or her phenotype will be even more severe than that observed in patients carrying a somatic mutation. In conclusion, the evidence described here shows for the first time the involvement of somatic NOD2 mosaicism in the pathogenesis of BS. This opens the possibility that this genetic mechanism underlies additional patients previously diagnosed as BS or as JIA. Because of the potential clinical consequences, further studies are needed to confirm this hypothesis.

Background Increasingly, neonatal clinics seek to minimize painful experiences and stress for premature infants. Fundoscopy performed with a binocular indirect ophthalmoscope is the reference examination technique for screening of retinopathy of prematurity (ROP), and it is associated with pain and stress. Wide-field digital retinal imaging is a recent technique that should be evaluated for minimizing infant pain and stress. Methods The purpose of the study was to assess and compare the impact of using a binocular indirect ophthalmoscope (BIO), or wide-field digital retinal imaging (WFDRI) on pain and stress in infants undergoing ROP screening examination. This was a comparative evaluation study of two screening procedures. Ophthalmologic examinations (N = 70) were performed on 24 infants with both BIO and WFDRI. Pain assessments were performed with two specific neonatal scales (Crying, requires oxygen, increased vital signs, expression and sleeplessness, CRIES and, Premature infant pain profile, PIPP) just prior to the examination, and 30 seconds, 1 hour, and 24 hours later after ending the examination. Results Changes over time were significantly different between BIO and WFDRI with both scales (PIPP score, p = .007, and CRIES score, p = .001). Median PIPP score (interquartile interval) at baseline was 4 (3–5). At 30 seconds the score was 8 (6–9) for BIO and 6 (5–7) for WFDRI, respectively. The increase in PIPP score between baseline and 30 seconds was significantly lower with WFDRI (p = .006). The median increase in CRIES score from baseline to 30 seconds was 1 point lower for WFDRI than for BIO (p Conclusions A transient short-term pain and stress response occurs with both BIO and WFDRI. Infants examined for screening of ROP with digital retinal imaging present less pain and stress at 30 seconds following completion of the exam when compared with binocular indirect ophthalmoscopy.

Propósito: Evaluar los resultados y complicaciones a largo plazo de los dispositivos de drenaje para glaucoma (DDG) en pacientes pediátricos (0-15 años). Material y métodos: Estudio retrospectivo de cohortes de 17 DDG implantadas desde julio de 1994 hasta abril del año 2007 en 14 pacientes (17 ojos). En dos pacientes (3 ojos) se implantó un DDG de Molteno (DDGM) y en 12 pacientes (14 ojos) un DDG de Ahmed (DDGA). Se han recogido datos demográficos y relacionados con la afección glaucomatosa de cada paciente. Se ha estudiado el porcentaje de éxito de la cirugía, así como el tiempo durante el cual se ha mantenido controlada la tensión desde el implante del dispositivo y las complicaciones derivadas de este. Resultados: De los 14 pacientes, nueve (64,28%) presentaban glaucoma congénito, y cinco (35,71%) glaucoma afáquico secundario a cirugía de catarata. La media de la presión intraocular (PIO) preoperatoria fue de 29,82mmHg (DS: 6,98). La media de la PIO posquirúrgica fue de 14,05mmHg (DS: 7,57). La media del seguimiento ha sido de 3,14 años (3 meses-8,3 años). Se ha considerado como éxito mantener, en las dos últimas revisiones, la PIO igual o por debajo de 21mmHg sin signos de progresión de glaucoma con o sin uso de fármacos hipotensores tópicos, sin necesidad de cirugías de glaucoma adicionales y sin la aparición de complicaciones devastadoras para la visión. La probabilidad acumulada de éxito según el análisis de Kaplan Meier ha sido de 76, 63 y 55% a los 6 meses, 1-3 años y 4-8 años respectivamente. El 41,17% de los DDG fracasaron (7/17). Conclusiones: Los DDG son una buena opción quirúrgica para los glaucomas refractarios pediátricos cuando otros procedimientos quirúrgicos han fracasado o tienen un mal pronóstico. Purpose: To evaluate the results and long-term complications of glaucoma drainage devices (GDD) in paediatric patients (0-15 years). Methods: Retrospective cohort study was conducted on 17 implanted glaucoma drainage devices from July 1994 to April 2007 in 14 patients (17 eyes). In two patients (3 eyes) a Molteno GDD (MGDD) was implanted, and in 12 patients (14 eyes) an Ahmed GDD (AGDD) was used. We studied the demographic and glaucoma related patient data, as well as the probability of surgical success. The time which intraocular pressure (IOP) was controlled and the postoperative complications were also studied. Results: Of the fourteen patients, 9 (64.28%) showed congenital glaucoma, and 5 (35.71%) aphakic glaucoma. The pre-aqueous drainage device median IOP was 29.82mmHg (SD: 6.98), and 14.05mmHg (SD: 7.57) postoperative. The median follow-up was 3.14 years (3 months-8.3 years). Success of aqueous drainage device was defined as an IOP less than 21mmHg with or without medication on the last two follow-up visits, and without severe complications or further glaucoma surgery. Using a Kaplan Meier analysis there was success in 76%, 63% and 55% at the six months, 1-3 years and 4-8 years respectively. The GDD was a failure in 41.17%. Conclusions: GDDs are a good surgery option for refractory paediatric glaucoma when other surgery procedures have failed or have bad prognosti.

Orbital subperiosteal hemorrhage is rare, with most cases occurring in young males as a result of direct facial or orbital trauma. The authors present a case of a spontaneous subperiosteal hematoma of the orbit in a 4-year-old girl.

Glaucoma drainage devices may be indicated in glaucoma associated to complex congenital anomalies or dysgenesis of the anterior segment, secondary glaucomas such as those developed after congenital cataract surgery, severe primary congenital glaucoma after failed angle surgery and in eyes with severe conjunctival scarring. They can be combined with several other procedures, such as cataract extraction, intraocular lens implantation, keratoplasty or pars plana vitrectomy. This procedure may achieve a sustained and prolonged intraocular pressure reduction in children, with early post-operative success as high as 90 %, although it decreases over time, to 40–60 % survival at 4–6 years using the Kaplan-Meier analysis and most children need to reinitiate glaucoma treatment postoperatively. We must bear in mind that complications may occur, especially tube malposition and exposure, and multiple repeated surgeries may be necessary. The advantages and complications should be weighed in each individual case.