RESUMEN
Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to optic atrophy and pigmentary retinopathy. We report an unusual retinal manifestation of peroxisomal biogenesis disorder.
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Trastorno Peroxisomal/patología , Trastorno Peroxisomal/cirugía , Enfermedades de la Retina/patología , Enfermedades de la Retina/cirugía , Preescolar , Femenino , Humanos , Trastorno Peroxisomal/complicaciones , Pronóstico , Enfermedades de la Retina/complicacionesRESUMEN
PURPOSE: To report longer term results of transscleral sutured intraocular lens (TSSIOL) implantation in a sizable cohort of aphakic children, who were not suitable for contact lens wear and lacked adequate capsular support for sulcus fixation of an intraocular lens. METHODS: Clinical outcome data were collated by retrospective review after surgery on 43 consecutive eyes in 32 aphakic children (mean age at implantation = 10 years; 33% < or = age 7 years). Outcome measures included visual acuity, postoperative refractive error, postoperative complications, and rate of reoperation. Follow-up averaged 37 months. RESULTS: Visual acuity improved after surgery in 70% (30) of operated eyes (in 69% or 22/32 children). Fifty-one percent (22/43 eyes) improved by two lines or more. No patient suffered a loss of acuity or exacerbation of preexisting amblyopia. Postoperative refraction was within +/-2.0 D of the predicted refraction in 93% (40/43) of eyes. Complications, with the exception of one eye (2%), were minor/transient and resolved in the first week after surgery. Complications included small hyphemas (7%, 3/43 eyes), vitreous hemorrhage (5%, 2/43 eyes), and ocular hypertension or hypotony (5%). Two eyes (5%) exhibited episodes of iris capture of the IOL optic, one of which (2%, 1/43) eventually necessitated reoperation for IOL exchange. No retinal detachments or other retinal complications were encountered. CONCLUSION: TSSIOL implantation appears to be a safe and effective method for correcting aphakia in pediatric eyes that lack adequate capsular support. Safety over a follow-up period longer than the average 3 years reported here remains to be determined. The surgery is more difficult to perform than capsular-bag or sulcus implantation and potentially carries greater risks.
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Afaquia Poscatarata/cirugía , Implantación de Lentes Intraoculares/métodos , Lentes Intraoculares , Esclerótica/cirugía , Técnicas de Sutura , Adolescente , Adulto , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Complicaciones Posoperatorias , Estudios Retrospectivos , Seguridad , Resultado del Tratamiento , Agudeza VisualRESUMEN
PURPOSE: To describe and evaluate alternate techniques for implanting intraocular lenses in children in the absence of adequate capsular support for traditional lens implantation. METHODS: Postoperative results of 18 eyes with posterior chamber intraocular lenses (PCIOLs) sutured to the ciliary sulcus and 10 eyes implanted with anterior chamber intraocular lenses (ACIOLs) were reviewed. Visual outcomes were divided into 2 groups: onset of aphakia during the critical period of visual development (< or = 9 years) and onset after the critical period (> 9 years). Visual outcomes and complications were recorded. RESULTS: Average follow-up was 10.3 months in the PCIOL group and 49.2 months in the ACIOL group. Eyes that became aphakic after the critical period of visual development achieved better overall final visual acuity than the eyes that became aphakic during the critical period; indeed, the eyes that became aphakic during the critical period did not achieve significantly improved vision. There were no complications in the PCIOL group. Complications in the ACIOL group included corectopia, haptic migration through the operative wound requiring removal, and pigment deposits on the lens. CONCLUSIONS: PCIOLs sutured to the ciliary sulcus offer a superior option to ACIOLs for correction of childhood aphakia in children lacking capsular support. ACIOLs had a high rate of serious complications (10%) in this small series. Secondary implantation with transsclerally sutured PCIOLs should be considered in complicated cases when more conservative options have been exhausted.
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Cápsula del Cristalino/patología , Implantación de Lentes Intraoculares/métodos , Lentes Intraoculares , Adolescente , Cámara Anterior/cirugía , Afaquia Poscatarata/cirugía , Niño , Preescolar , Cuerpo Ciliar/cirugía , Humanos , Lactante , Estudios Retrospectivos , Seguridad , Técnicas de Sutura , Agudeza VisualRESUMEN
The association of alveolar capillary dysplasia with misalignment of pulmonary veins (ACD-MPV) and ocular abnormalities has not been previously reported. We present a case of ACD-MPV and anterior segment dysgenesis of the eye in a full-term infant as well as a review of the relevant literature.
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Segmento Anterior del Ojo/anomalías , Malformaciones Arteriovenosas/diagnóstico , Anomalías del Ojo/diagnóstico , Hipertensión Pulmonar/congénito , Alveolos Pulmonares/irrigación sanguínea , Venas Pulmonares/anomalías , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/patología , Aniridia/diagnóstico , Aniridia/patología , Segmento Anterior del Ojo/patología , Malformaciones Arteriovenosas/patología , Biopsia , Capilares/anomalías , Capilares/patología , Diagnóstico Diferencial , Anomalías del Ojo/patología , Humanos , Hipertensión Pulmonar/diagnóstico , Recién Nacido , Pulmón/patología , Masculino , Alveolos Pulmonares/patología , Venas Pulmonares/patología , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/patología , SíndromeRESUMEN
Huntington's disease (HD) is a progressive neurodegenerative disorder with no effective treatment. Geldanamycin is a benzoquinone ansamycin that binds to the heat shock protein Hsp90 and activates a heat shock response in mammalian cells. In this study, we show by using a filter retardation assay and immunofluorescence microscopy that treatment of mammalian cells with geldanamycin at nanomolar concentrations induces the expression of Hsp40, Hsp70 and Hsp90 and inhibits HD exon 1 protein aggregation in a dose-dependent manner. Similar results were obtained by overexpression of Hsp70 and Hsp40 in a separate cell culture model of HD. This is the first demonstration that huntingtin protein aggregation in cells can be suppressed by chemical compounds activating a specific heat shock response. These findings may provide the basis for the development of a novel pharmacotherapy for HD and related glutamine repeat disorders.
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Proteínas de Choque Térmico/metabolismo , Respuesta al Choque Térmico/efectos de los fármacos , Enfermedad de Huntington/metabolismo , Quinonas/farmacología , Secuencia de Aminoácidos , Animales , Benzoquinonas , Células COS , Exones , Proteínas del Choque Térmico HSP40 , Proteínas HSP70 de Choque Térmico/metabolismo , Proteínas HSP90 de Choque Térmico/metabolismo , Proteína Huntingtina , Enfermedad de Huntington/tratamiento farmacológico , Enfermedad de Huntington/genética , Enfermedad de Huntington/inmunología , Lactamas Macrocíclicas , Datos de Secuencia Molecular , Mutación , Proteínas del Tejido Nervioso/genética , Proteínas del Tejido Nervioso/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Péptidos/metabolismoAsunto(s)
Glaucoma/etiología , Iritis/etiología , Neoplasias de la Retina/patología , Retinoblastoma/patología , Niño , Diagnóstico Diferencial , Enucleación del Ojo , Femenino , Glaucoma/patología , Humanos , Iritis/patología , Neoplasias de la Retina/complicaciones , Neoplasias de la Retina/cirugía , Retinoblastoma/complicaciones , Retinoblastoma/cirugíaRESUMEN
The huntingtin exon 1 proteins with a polyglutamine repeat in the pathological range (51 or 83 glutamines), but not with a polyglutamine tract in the normal range (20 glutamines), form aggresome-like perinuclear inclusions in human 293 Tet-Off cells. These structures contain aggregated, ubiquitinated huntingtin exon 1 protein with a characteristic fibrillar morphology. Inclusion bodies with truncated huntingtin protein are formed at centrosomes and are surrounded by vimentin filaments. Inhibition of proteasome activity resulted in a twofold increase in the amount of ubiquitinated, SDS-resistant aggregates, indicating that inclusion bodies accumulate when the capacity of the ubiquitin-proteasome system to degrade aggregation-prone huntingtin protein is exhausted. Immunofluorescence and electron microscopy with immunogold labeling revealed that the 20S, 19S, and 11S subunits of the 26S proteasome, the molecular chaperones BiP/GRP78, Hsp70, and Hsp40, as well as the RNA-binding protein TIA-1, the potential chaperone 14-3-3, and alpha-synuclein colocalize with the perinuclear inclusions. In 293 Tet-Off cells, inclusion body formation also resulted in cell toxicity and dramatic ultrastructural changes such as indentations and disruption of the nuclear envelope. Concentration of mitochondria around the inclusions and cytoplasmic vacuolation were also observed. Together these findings support the hypothesis that the ATP-dependent ubiquitin-proteasome system is a potential target for therapeutic interventions in glutamine repeat disorders.
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Acetilcisteína/análogos & derivados , Proteínas de Choque Térmico , Cuerpos de Inclusión/metabolismo , Mutación , Proteínas del Tejido Nervioso/metabolismo , Proteínas Nucleares/metabolismo , Fragmentos de Péptidos/metabolismo , Proteínas , Proteínas 14-3-3 , Acetilcisteína/farmacología , Proteínas Portadoras/metabolismo , Línea Celular , Cisteína Endopeptidasas/metabolismo , Inhibidores de Cisteína Proteinasa/farmacología , Chaperón BiP del Retículo Endoplásmico , Exones , Humanos , Proteína Huntingtina , Enfermedad de Huntington/metabolismo , Immunoblotting , Cuerpos de Inclusión/ultraestructura , Proteínas de la Membrana/metabolismo , Microscopía Fluorescente , Modelos Biológicos , Chaperonas Moleculares/metabolismo , Complejos Multienzimáticos/antagonistas & inhibidores , Complejos Multienzimáticos/metabolismo , Proteínas del Tejido Nervioso/genética , Proteínas Nucleares/genética , Fragmentos de Péptidos/genética , Proteínas de Unión a Poli(A) , Complejo de la Endopetidasa Proteasomal , Proteínas de Unión al ARN/metabolismo , Proteínas Recombinantes de Fusión/genética , Proteínas Recombinantes de Fusión/metabolismo , Sinucleínas , Antígeno Intracelular 1 de las Células T , Transgenes , Tirosina 3-Monooxigenasa/metabolismo , Vimentina/metabolismo , alfa-SinucleínaRESUMEN
OBJECTIVE: To describe a series of children with ocular injuries related to air bag deployment. DESIGN: Retrospective, observational case series. PARTICIPANTS: Seven patients with ocular injuries sustained in motor vehicle accidents in which air bags were deployed. METHODS: Review of medical records. RESULTS: All patients had periocular contusions. Minor injuries included corneal abrasions (n = 5), superficial eyelid laceration (n = 1), and traumatic iritis (n = 2). Serious injuries included corneal edema (n = 1) and a traumatic hyphema with secondary glaucoma and cataract (n = 1). The latter patient required surgery. All other injuries resolved with medical therapy. All patients recovered normal visual acuity. CONCLUSIONS: Serious ocular injuries in children may result from air bag deployment. Most such injuries are minor and resolve without sequela. It is recommended that infants and children travel in the rear seat of automobiles to minimize their risk of injury.
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Airbags/efectos adversos , Contusiones/etiología , Lesiones de la Cornea , Lesiones Oculares/etiología , Párpados/lesiones , Órbita/lesiones , Accidentes de Tránsito , Catarata/etiología , Catarata/patología , Niño , Preescolar , Contusiones/patología , Córnea/patología , Edema Corneal/etiología , Edema Corneal/patología , Lesiones Oculares/patología , Párpados/patología , Femenino , Glaucoma/etiología , Glaucoma/patología , Humanos , Hipema/etiología , Hipema/patología , Lactante , Masculino , Órbita/patología , Fracturas Orbitales/etiología , Fracturas Orbitales/patología , Estudios RetrospectivosRESUMEN
The Escherichia coli SeqA protein has been found to affect initiation of replication negatively, both in vivo and in vitro. The mechanism of inhibition is, however, not known. SeqA has been suggested to affect the formation and activity of the initiation complex at oriC, either by binding to DNA or by interacting with the DnaA protein. We have investigated the binding of SeqA to oriC by electron microscopy and found that SeqA binds specifically to two sites in oriC, one on each side of the DnaA binding site R1. Specific binding was found for fully and hemimethylated but not unmethylated oriC in good agreement with earlier mobility shift studies. The affinity of SeqA for hemi-methylated oriC was higher than for fully methylated oriC. The binding was in both cases strongly cooperative. We suggest that SeqA binds to two nucleation sites in oriC, and by the aid of protein-protein interaction spreads to adjacent regions in the same oriC as well as recruiting additional oriC molecules and/or complexes into larger aggregates.
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Proteínas Bacterianas/metabolismo , Metilación de ADN , ADN Bacteriano/metabolismo , Origen de Réplica , Factores de Transcripción , Proteínas de la Membrana Bacteriana Externa , Sitios de Unión , Replicación del ADN , ADN Superhelicoidal , Proteínas de Unión al ADN/metabolismo , Escherichia coli , Proteínas de Escherichia coli , PlásmidosRESUMEN
BACKGROUND: Nasolacrimal duct (NLD) obstruction and tear film abnormalities occur frequently in children with trisomy 21. This study describes the outcomes of treatment for NLD obstruction in this population. METHODS: The records of 15 children with trisomy 21 treated for NLD obstruction were reviewed. Eight patients were initially treated with NLD probing with or without placement of nonfixated lacrimal stents. Because of poor success with this procedure, the initial treatment of children with trisomy 21 and NLD obstruction was changed to balloon catheter dilation in 1997. Outcomes were considered excellent if the patient had complete resolution of epiphora and dacryocystitis, good if the patient had only mild residual symptoms, fair if the patient had significant residual symptoms, and poor if there was no improvement. RESULTS: Of 8 patients treated initially with NLD probing, 5 had fair or poor outcomes. These patients all had good outcomes after placement of nasally fixated lacrimal stents, balloon catheter dilation, or both. Of 7 patients treated initially with balloon catheter dilation, 5 had excellent or good outcomes and 2 had fair or poor outcomes. CONCLUSION: Simple NLD probing is often unsuccessful in treating NLD obstruction in children with trisomy 21. Balloon catheter dilation appears to be a reasonable alternative first treatment in these patients.
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Dacriocistorrinostomía , Síndrome de Down/complicaciones , Conducto Nasolagrimal/cirugía , Implantación de Prótesis/métodos , Stents , Cateterismo , Endoscopía , Humanos , Lactante , Recién Nacido , Obstrucción del Conducto Lagrimal/complicaciones , Obstrucción del Conducto Lagrimal/patología , Recurrencia , Resultado del TratamientoRESUMEN
BACKGROUND: Anomalous retinal correspondence (ARC) is a neural adaptation to eye misalignment in which non-corresponding retinal points are linked in the visual cortex to provide binocular fusion. ARC within the striate cortex would require that horizontal neurons link right-eye and left-eye ocular dominance columns (ODCs) separated by a distance in the cortex proportional to the angle of strabismus. Two hypothetical mechanisms are possible: (1) The ODCs can be linked by axons of horizontal neurons that project monosynaptically from a right-eye to a left-eye ODC. The further apart the ODCs, the longer the axons; hence, axon length should be greater in subjects with strabismus than in healthy subjects (elongated axon, monosynaptic hypothesis). In this case, the clinical probability of developing ARC should be independent of the angle of strabismus, until an upper-limit angle of strabismus is reached equally to the maximal length of axons available to link nonadjacent ODCs, at which point an abrupt decline of ARC probability should be evident. (2) Alternatively, ODCs can be linked by a chain of horizontal neurons, the number of which increases as the distance among ODCs increases; axon length in subjects with strabismus would be expected to be the same as in healthy subjects (normal axon, polysynaptic hypothesis). In this case, the greater the angle of strabismus, the more horizontal neurons and synapses required for linkage, and the greater the probability of signal degradation. Thus, the clinical probability of developing ARC through a polysynaptic mechanism should be inversely proportional to the angle of strabismus. The purpose of this study was to test these 2 hypotheses neuroanatomically in primates and clinically in children. METHODS: For the neuroanatomic portion of the study, biotinylated dextran amine was injected into ODCs of area V1 to label individual neurons. The length of the horizontal axons from these neurons was then compared in strabismic and normal monkeys. In the clinical portion of the study, the medical records of 192 children with strabismus were reviewed retrospectively. The angle of strabismus (prism cover test) and the presence of ARC (Bagolini striated lenses, Worth/Polaroid 4-dot) were recorded. Plots of the presence of ARC as a function of the angle of strabismus were obtained. RESULTS: There was no significant difference in axon length between healthy (7. 02 +/- 0. 83 mm) and strabismic monkeys (6. 60 +/- 1. 07 mm) (P =.16). In children with strabismus, ARC decreased as the angle of strabismus increased (P <. 05). ARC was more prevalent in children who had primary or postsurgical deviations of
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Enfermedades de la Retina/fisiopatología , Estrabismo/fisiopatología , Trastornos de la Visión/fisiopatología , Visión Binocular , Corteza Visual/fisiopatología , Adaptación Ocular/fisiología , Animales , Axones/fisiología , Niño , Preescolar , Movimientos Oculares , Humanos , Lactante , Recién Nacido , Macaca , Enfermedades de la Retina/complicaciones , Estrabismo/complicaciones , Sinapsis/fisiología , Trastornos de la Visión/complicaciones , Corteza Visual/patologíaRESUMEN
PURPOSE: To report a case of neurofibromatosis type 2 with pseudopapilledema secondary to a prepapillary gliotic membrane. METHOD: Case report. Results of an ocular examination and fluorescein angiography of a patient are described. RESULTS: Fundus examination of a 14-year-old male with neurofibromatosis type 2 revealed an irregular elevation of the optic nerve and a perifoveal epiretinal membrane in the right eye. Fluorescein angiography demonstrated no autofluorescence nor leakage in the area of the optic nerve. CONCLUSION: The patient has pseudopapilledema secondary to an epiretinal membrane overlying the optic disk of the right eye. The possibility of pseudopapilledema should be considered when evaluating patients with neurofibromatosis type 2 and abnormal optic nerves.
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Membrana Epirretinal/complicaciones , Anomalías del Ojo/etiología , Neurofibromatosis 2/complicaciones , Nervio Óptico/anomalías , Papiledema/etiología , Adolescente , Membrana Epirretinal/diagnóstico , Anomalías del Ojo/diagnóstico , Angiografía con Fluoresceína , Humanos , Masculino , Nervio Óptico/patología , Papiledema/diagnóstico , Agudeza VisualRESUMEN
PURPOSE: Congenital smooth muscle hamartomas are benign tumors composed of proliferating smooth muscle cells. They are usually seen as abnormal patches of skin. Ocular involvement of congenital smooth muscle hamartomas is unusual, with rare reports of patients with external eyelid involvement or proptosis resulting from orbital tumors. We describe a patient with a congenital smooth muscle hamartoma that involved the tarsal conjunctival fornix. METHODS: Review of the patient's medical records, including the results of ophthalmologic, radiologic, and histologic examinations. RESULTS: A healthy 2-year-old boy was initially seen with a conjunctival mass. He had a discrete, gray, cystic-appearing lesion in the inferior fornix of the left eye. A magnetic resonance imaging study revealed no signs of extension of the lesion into the orbit. The lesion was surgically excised. Histologic sections showed large bundles of smooth muscle with a fibrotic background and interdigitating fat, consistent with a diagnosis of a congenital smooth muscle hamartoma. CONCLUSION: To our knowledge, this is the first report of a patient with a congenital smooth muscle hamartoma arising from the conjunctival fornix. It presumably originated from either the smooth muscle of the vascular endothelium or from the capsulopapebral muscle. Congenital smooth muscle hamartoma should be considered in the differential diagnosis of cystic-appearing conjunctival fornix lesions.
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Neoplasias de la Conjuntiva/congénito , Neoplasias de la Conjuntiva/patología , Hamartoma/congénito , Hamartoma/patología , Músculo Liso/patología , Enfermedades Musculares/congénito , Enfermedades Musculares/patología , Preescolar , Hamartoma/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Enfermedades Musculares/diagnósticoAsunto(s)
Conjuntivitis Bacteriana/microbiología , Meningitis Meningocócica/microbiología , Adolescente , Antibacterianos , Preescolar , Conjuntiva/microbiología , Conjuntivitis Bacteriana/diagnóstico , Conjuntivitis Bacteriana/tratamiento farmacológico , Quimioterapia Combinada/uso terapéutico , Femenino , Humanos , Recién Nacido , Masculino , Meningitis Meningocócica/diagnóstico , Meningitis Meningocócica/tratamiento farmacológico , Neisseria meningitidis/aislamiento & purificaciónRESUMEN
PURPOSE: Myectomy of the inferior oblique muscle is a common procedure used to correct overaction of this muscle. Previous descriptions of the surgery have not discussed how the surgeon should handle the proximal muscle stump following myectomy. This study examined the effectiveness of inferior oblique muscle myectomy with tucking of the muscle into Tenon's capsule for treatment of inferior oblique muscle overaction. METHODS: The procedure was studied prospectively in 22 patients who underwent 32 inferior oblique muscle myectomies. In 18 patients, the intraoperative behavior of the inferior oblique muscle was recorded. Complete ocular motility examinations were performed before and after surgery. Success was defined as the elimination of inferior oblique muscle overaction and the elimination of hypertropia secondary to persistent ipsilateral inferior oblique muscle overaction in primary gaze. RESULTS: The surgery corrected inferior oblique muscle overaction in 94% of eyes. Hypertropia secondary to persistent ipsilateral inferior oblique muscle overaction was eliminated in 92% of patients. There was no correlation between outcome and the intraoperative behavior of the inferior oblique muscle. CONCLUSION: Tucking of the inferior oblique muscle stump into Tenon's capsule is recommended following inferior oblique myectomy. This procedure is safe and effective for correcting inferior oblique muscle overaction.
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Tejido Conectivo/cirugía , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos/métodos , Estrabismo/cirugía , Estudios de Seguimiento , Humanos , Estudios Prospectivos , Resultado del TratamientoRESUMEN
Unusual ocular motility abnormalities have been rarely reported to result from anomalous extraocular structures. These structures, which may be either muscular or fibrotic, attach to the globe and produce a mechanical restriction resulting in incomitant strabismus. To our knowledge, we report the first patient with an anomalous extraocular muscle in whom the clinical, radiologic, surgical, and histopathologic findings are described.
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Músculos Oculomotores/anomalías , Estrabismo/etiología , Preescolar , Humanos , Masculino , Músculos Oculomotores/diagnóstico por imagen , Músculos Oculomotores/patología , Músculos Oculomotores/cirugía , Estrabismo/cirugía , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE: Allen figure optotypes commonly are used to measure visual acuity in young children. Children with normal acuity measured with Allen figures sometimes are found to have unsuspected amblyopia that is detected when they are tested with Snellen letters. The correlation between visual acuities measured with these two optotype charts has not been well studied. The authors compared visual acuities measured with Allen figure and Snellen letter optotypes using the Mentor B-VAT II monitor. DESIGN: The study design was a nonrandomized, comparative clinical trial. PARTICIPANTS: The study was composed of 12 adult subjects. INTERVENTION: Visual acuities were measured using both Allen figure and Snellen letter optotypes using the B-VAT II monitor. The images were progressively blurred using plus lenses. MAIN OUTCOME MEASURES: Visual acuity was measured. RESULTS: At visual acuity levels of 20/60 or better, Allen figure testing averaged 1.5 lines better than Snellen letter testing; between 20/70 and 20/200 visual acuities, the difference was 2.5 lines. CONCLUSIONS: Allen figure testing with the B-VAT II monitor overestimates visual acuity compared with testing with Snellen letters. This appears to result primarily from the construction of the optotypes. This discrepancy should be considered when visual acuity is measured in young children.