RESUMEN
In the nineteen-nineties, there was much hype in the European media about presumed laser pointer maculopathy. However, the recent introduction of more powerful and therefore more dangerous laser pointers and their easy availability on the internet necessitates vigilance on the issue. This is an urgent matter, as here we report three cases of proven maculopathy due to an unsafe laser pointer. Three boys aged 13, 9 and 12 years used an unsafe laser pointer as a toy and looked repeatedly into the pointer, resulting in a permanent reduction in visual acuity due to macular damage. Laser pointers are not designed to be children's toys or instruments to annoy people in a crowd. Health authorities and the ophthalmic community should be aware of the potential danger of improper use of high-output laser pointers and warn the general public before the widespread availability of unsafe laser pointers and consequently laser pointer-induced macular damage becomes a true social problem.
Asunto(s)
Lesiones Oculares/etiología , Rayos Láser/efectos adversos , Agudeza Visual , Adolescente , Concienciación , Niño , Humanos , Internet , Degeneración Macular/etiología , Masculino , Juego e Implementos de JuegoRESUMEN
OBJECTIVE: 3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even speculated to be a nondisease. The natural course of disease is unknown. METHODS: This is a study on 10 patients with 3-methylglutaconic aciduria type I. We present the clinical, neuroradiologic, biochemical, and genetic details on 2 new adult-onset patients and follow-up data on 2 patients from the literature. RESULTS: Two unrelated patients with the characteristic biochemical findings of 3- methylglutaconic aciduria type I presented in adulthood with progressive ataxia. One patient additionally had optic atrophy, the other spasticity and dementia. Three novel mutations were found in conserved regions of the AUH gene. In both patients, MRI revealed extensive white matter disease. Follow-up MRI in a 10-year-old boy, who presented earlier with isolated febrile seizures, showed mild abnormalities in deep white matter. CONCLUSION: We define 3-methylglutaconic aciduria type I as an inborn error of metabolism with slowly progressive leukoencephalopathy clinically presenting in adulthood. In contrast to the nonspecific findings in pediatric cases, the clinical and neuroradiologic pattern in adult patients is highly characteristic. White matter abnormalities may already develop in the first decades of life. The variable features found in affected children may be coincidental. Long-term follow-up in children is essential to learn more about the natural course of this presumably slowly progressive disease. Dietary treatment with leucine restriction may be considered.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/patología , Encefalopatías Metabólicas Innatas/patología , Encéfalo/patología , Glutaratos/metabolismo , Leucina/metabolismo , Leucoencefalopatías/patología , Fibras Nerviosas Mielínicas/patología , Adulto , Errores Innatos del Metabolismo de los Aminoácidos/genética , Errores Innatos del Metabolismo de los Aminoácidos/metabolismo , Encéfalo/metabolismo , Encefalopatías Metabólicas Innatas/genética , Encefalopatías Metabólicas Innatas/metabolismo , Mapeo Encefálico , Niño , Progresión de la Enfermedad , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Lactante , Leucoencefalopatías/genética , Leucoencefalopatías/metabolismo , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Fibras Nerviosas Mielínicas/metabolismoRESUMEN
OBJECTIVE: Infantile esotropia, a common form of strabismus, is treated either by bilateral recession (BR) or by unilateral recession-resection (RR). Differences in degree of alignment achieved by these two procedures have not previously been examined in a randomised controlled trial. DESIGN: Controlled, randomised multicentre trial. SETTING: 12 university clinics. PARTICIPANTS AND INTERVENTION: 124 patients were randomly assigned to either BR or RR. Standardised protocol prescribed that the total relocation of the muscles, in millimetres, was calculated by dividing the preoperative latent angle of strabismus at distance, in degrees, by 1.6. MAIN OUTCOME MEASURE: Alignment assessed as the variation of the postoperative angle of strabismus during alternating cover. RESULTS: The mean preoperative latent angle of strabismus at distance fixation was +17.2 degrees (SD 4.4) for BR and +17.5 degrees (4.0) for RR. The mean postoperative angle of strabismus at distance was +2.3 degrees (5.1) for BR and +2.9 degrees (3.5) for RR (p = 0.46 for reduction in the angle and p = 0.22 for the within-group variation). The mean reduction in the angle of strabismus was 1.41 degrees (0.45) per millimetre of muscle relocation for RR and 1.47 (0.50) for BR (p = 0.50 for reduction in the angle). Alignment was associated with postoperative binocular vision (p = 0.001) in both groups. CONCLUSIONS: No statistically significant difference was found between BR and RR as surgery for infantile esotropia.
Asunto(s)
Esotropía/cirugía , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos/métodos , Niño , Preescolar , Esotropía/fisiopatología , Femenino , Humanos , Masculino , Músculos Oculomotores/fisiología , Retinoscopía , Resultado del Tratamiento , Visión Binocular/fisiología , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: Children with congenital disorders of glycosylation (CDG) type Ia frequently present with ocular involvement and visual loss. Little is known, however, about the occurrence of ophthalmological abnormalities in other subtypes of CDG syndrome. METHODS: We evaluated 45 children sequentially diagnosed with CDG type I for the presence of ocular abnormalities at the time of the diagnosis and during follow-up. We compared the various ophthalmic findings in the different CDG subgroups. RESULTS: Of the 45 patients, 22 had CDG type Ia, nine had CDG type Ic and 14 had a so-far undiagnosed biochemical background (CDG type Ix). We found ocular anomalies in 28 of the 45 children. Three had unique findings, including congenital cataract, retinal coloboma and glaucoma. A few CDG type Ia patients showed a sequential occurrence of symptoms, including retinitis pigmentosa or cataract. CONCLUSIONS: Ophthalmic findings are frequent in CDG syndrome involving both the anterior and posterior segment of the eye. The disorder might lead to abnormal development of the lens or the retina, cause diminished vision, alter ocular motility and intraocular pressure. We suggest routine screening and follow-up for ophthalmological anomalies in all children diagnosed with CDG syndrome to provide early treatment and adequate counselling.
Asunto(s)
Trastornos Congénitos de Glicosilación/complicaciones , Trastornos de la Visión/complicaciones , Adulto , Edad de Inicio , Catarata/complicaciones , Catarata/diagnóstico , Niño , Preescolar , Trastornos Congénitos de Glicosilación/clasificación , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico , Femenino , Glaucoma/complicaciones , Glaucoma/diagnóstico , Humanos , Masculino , Estudios Prospectivos , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Estrabismo/complicaciones , Estrabismo/diagnóstico , Trastornos de la Visión/diagnósticoRESUMEN
Two female neonates were diagnosed post partum with bilateral aniridia. The first patient had the familial form, caused by a point mutation in the paired box 6 (PAX6) gene. The second patient had a sporadic aniridia caused by a de novo microdeletion involving both the PAX6 gene as well as the Wilms tumour suppressor-I (WT1) gene. This made screening for the presence of a Wilms tumour necessary. The second patient died several months after birth, due to respiratory insufficiency. Aniridia is a rare developmental disorder of the eye, with absence of most of the iris tissue, caused by an abnormality in the PAX6 gene on chromosome 11p13. Familial aniridia is usually due to a point mutation of the PAX6 gene, which causes solely ocular abnormalities. Sporadic aniridia is caused by a de novo deletion or microdeletion of chromosome 11p13, which affects not only the PAX6 gene but also the adjacent WT1 gene. In these patients, the Wilms tumour, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome can be present, and screening for a Wilms tumour is indicated. Unless previous investigation of a family member has demonstrated the WT1 gene to be normal, chromosome studies should always be performed in patients with aniridia.
Asunto(s)
Aniridia/genética , Proteínas del Ojo/genética , Proteínas de Homeodominio/genética , Factores de Transcripción Paired Box/genética , Proteínas Represoras/genética , Cromosomas Humanos Par 11 , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Humanos , Recién Nacido , Factor de Transcripción PAX6 , Mutación Puntual , Tumor de Wilms/genéticaRESUMEN
A 44-year-old man with a facial skin wound after working with a motor lawn mower had an orbital and ocular penetration by a 2.4 cm metal wire, with endophthalmitis caused by a Klebsiella ozaenae.
Asunto(s)
Cuerpos Extraños en el Ojo/diagnóstico , Infecciones por Klebsiella/diagnóstico , Adulto , Cuerpos Extraños en el Ojo/cirugía , Humanos , Infecciones por Klebsiella/cirugía , Masculino , Resultado del TratamientoRESUMEN
We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is discussed.
Asunto(s)
Atrofia Óptica Hereditaria de Leber/complicaciones , Polineuropatías/etiología , ADN Mitocondrial/genética , Enfermedades Desmielinizantes/patología , Humanos , Masculino , Persona de Mediana Edad , Atrofia Óptica Hereditaria de Leber/diagnóstico , Atrofia Óptica Hereditaria de Leber/genética , Atrofia Óptica Hereditaria de Leber/patología , Polineuropatías/diagnóstico , Polineuropatías/genética , Polineuropatías/patologíaRESUMEN
PURPOSE: Several types of inborn errors of the O-glycan biosynthesis are known, leading to clinically very distinct phenotypes. Children with O-mannosyl glycan biosynthesis defects commonly present as a severe form of congenital muscular dystrophy with decreased alpha-dystroglycan staining, congenital eye anomalies, and brain migration defects. Alpha-dystroglycan is an O-mannosylated glycoprotein with additional mucin type O-glycans. METHODS: Based on overlapping clinical features with O-mannosyl glycan defects, especially with muscle-eye-brain disease, the authors performed a muscle biopsy in a child with severe congenital hypotonia, high myopia, partial pachygyria, mental retardation, cutis laxa, and an inborn error affecting the biosynthesis of both mucin type O-glycans and N-linked glycans. RESULTS: The histology showed no signs of muscle dystrophy, but a mild myopathy with slight increase in the muscle fiber diameter variability and type I fiber predominance. No significant decrease in the alpha-dystroglycan staining was detected; therefore, in spite of the phenotypic similarities the authors could not confirm the role of abnormal dystroglycan in the etiology of the muscle weakness and the developmental anomalies. CONCLUSIONS: High myopia, muscle weakness, and cortical neuronal migration abnormalities are common in disorders of O-mannosylation and also observed in the authors' patient. However, compared to the severe generalized defect observed in mannosyl glycan defects, in this child the cerebral white matter and cerebellum were spared, and no muscle dystrophy could be confirmed. This is the first description of high myopia in cutis laxa syndrome in combination with congenital disorders of glycosylation.
Asunto(s)
Anomalías Múltiples , Errores Innatos del Metabolismo de los Carbohidratos/genética , Corteza Cerebral/anomalías , Cutis Laxo/genética , Enfermedades Musculares/congénito , Miopía/genética , Consanguinidad , Femenino , Glicosilación , Humanos , Lactante , Imagen por Resonancia Magnética , Mutación , Polisacáridos/genética , SíndromeRESUMEN
BACKGROUND: Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD). OBJECTIVE: Retroflexion of the head is a well known compensatory mechanism for ptosis, but generally retroflexion has a negative effect on swallowing. We hypothesised that severity of ptosis is related to degree of retroflexion and that this compensation is responsible for deteriorating dysphagia. METHODS: Nine OPMD patients were examined in the conditions "head position adapted to ptosis" and "head position slightly flexed". Ptosis was quantified by photogrammetry and retroflexion of the head by digital photographs. The severity of dysphagia was measured using visual analogue scales (VAS) and by calculating swallowing volumes and oropharyngeal swallow efficiency (OPSE) based on videofluoroscopy. RESULTS: Statistical analyses show a significant relationship between ptosis and degree of retroflexion. The degree of retroflexion of the head correlated significantly with VAS scores and with the maximum swallowing volume. The slightly flexed head position significantly improved VAS scores as well as swallowing volumes and OPSE. CONCLUSION: In OPMD patients, ptosis significantly correlates with retroflexion of the head, which has a negative effect on swallowing. Subjective and objective reduction of swallowing problems was found when patients were instructed to eat and drink with a slightly flexed head position.
Asunto(s)
Blefaroptosis/diagnóstico , Trastornos de Deglución/diagnóstico , Distrofia Muscular Oculofaríngea/diagnóstico , Adulto , Anciano , Blefaroptosis/fisiopatología , Deglución/fisiología , Trastornos de Deglución/fisiopatología , Femenino , Movimientos de la Cabeza/fisiología , Humanos , Masculino , Persona de Mediana Edad , Distrofia Muscular Oculofaríngea/fisiopatología , Orofaringe/fisiopatología , Dimensión del Dolor , Factores de Riesgo , Estadística como AsuntoRESUMEN
A case of a patient with a zygoma fracture in combination with a carotid-cavernous sinus fistula--an arterio-venous fistula between the internal carotid artery and the cavernous sinus--is presented. The most frequent cause is trauma, but the carotid-cavernous sinus fistula itself may have been the cause of trauma. The patient showed complete loss of ocular motility and total monocular blindness. Treatment of the fistula with endoarterial coil embolization was followed by improvement of vision and ocular motility, until finally complete recovery of ocular functions, which is exceptional. In this case, careful analysis of the MRA's showed that the CCSF most likely developed in the posttraumatic phase.
Asunto(s)
Ceguera/etiología , Fístula del Seno Cavernoso de la Carótida/etiología , Embolización Terapéutica , Oftalmoplejía/etiología , Fracturas Cigomáticas/complicaciones , Accidentes por Caídas , Anciano , Ciclismo/lesiones , Ceguera/terapia , Fístula del Seno Cavernoso de la Carótida/terapia , Embolización Terapéutica/instrumentación , Embolización Terapéutica/métodos , Estudios de Seguimiento , Humanos , Luxaciones Articulares/complicaciones , Masculino , Oftalmoplejía/terapia , Fracturas Orbitales/complicaciones , Recuperación de la Función , Visión MonocularRESUMEN
OBJECTIVE: To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome. DESIGN: Case series. SETTING: Tertiary referral center. BACKGROUND: The NOG gene encodes the protein noggin, which has antagonist action in osteogenesis. Malformation of bones and joints may result from defects in noggin. Teunissen-Cremers syndrome is caused by mutations in the NOG gene. Two mutations in this gene were reported previously. The proximal symphalangism-hearing impairment syndrome, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, conductive hearing loss, and occasionally synostoses. METHODS: We examined nine affected members of three Dutch families. Reconstructive middle ear surgery was performed in five patients (nine ears), and we sequenced the NOG gene in these families. RESULTS: Affected members had conductive hearing impairment, hyperopia, and broad thumbs and first toes with brachytelephalangia. Surgery manifested stapes ankylosis with additional incudal fixation frequently in the fossa incudis. Air-bone gaps decreased to less than 10 dB in six ears. Genetic analysis revealed three new mutations in the NOG gene. CONCLUSION: The Teunissen-Cremers syndrome is an entity in its clinical presentation, distinct from other syndromes with proximal symphalangism and hearing impairment. So far, in five families with Teunissen-Cremers syndrome, four truncating mutations and one amino acid substitution were found in the NOG gene. The majority of other mutations found in this gene are missense mutations, which might result in some residual protein activity. Reconstructive middle ear surgery is an option for treatment.
Asunto(s)
Anomalías Múltiples/genética , Anquilosis/genética , Proteínas Morfogenéticas Óseas/genética , Pérdida Auditiva Conductiva/genética , Hiperopía/genética , Estribo/anomalías , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/cirugía , Adolescente , Adulto , Anquilosis/diagnóstico , Anquilosis/cirugía , Audiometría de Tonos Puros , Conducción Ósea/genética , Conducción Ósea/fisiología , Proteínas Portadoras , Cefalometría , Niño , Análisis Mutacional de ADN , Facies , Femenino , Deformidades Congénitas del Pie/diagnóstico , Deformidades Congénitas del Pie/genética , Genotipo , Deformidades Congénitas de la Mano/diagnóstico , Deformidades Congénitas de la Mano/genética , Pérdida Auditiva Conductiva/diagnóstico , Pérdida Auditiva Conductiva/cirugía , Humanos , Hiperopía/diagnóstico , Masculino , Persona de Mediana Edad , Prótesis Osicular , Fenotipo , Reflejo Acústico/genética , Reflejo Acústico/fisiología , Movilización del Estribo , Sindactilia/diagnóstico , Sindactilia/genética , Síndrome , Sinostosis/diagnóstico , Sinostosis/genética , Pulgar/anomalías , Tomografía Computarizada por Rayos XRESUMEN
PURPOSE: To report the occurrence of recurrent multiple giant chalazia in the hyperimmunoglobulin E syndrome (hyper-IgE syndrome or Job syndrome). METHODS: Two patients with hyperimmunoglobulinemia E (>500 IU/ml) had ophthalmologic examination and surgical treatment for chalazia of the eyelids. RESULTS: The hyper-IgE syndrome is a rare immunodeficiency and multisystem disorder characterized by recurrent skin and pulmonary abscesses, connective tissue abnormalities, and elevated levels of serum IgE. In two patients with the hyper-IgE syndrome, multiple giant chalazia were seen in upper and lower eyelids. Despite surgical incision new giant chalazia arose. CONCLUSIONS: Recurrent multiple giant chalazia may occur as an ophthalmic feature of the hyper-IgE syndrome.