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1.
Ophthalmologica ; 241(3): 121-129, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30196286

RESUMEN

PURPOSE: To investigate stereoscopic vision in patients with macular telangiectasia (MacTel) type 2 and correlate paracentral sensitivity loss to reduced stereoscopic function. METHODS: In a prospective single-center study, 50 patients with MacTel type 2 and 25 age-matched controls were investigated. Stereoscopic function was evaluated with Lang I, Titmus, and TNO tests. Sensitivity of the central 16° was tested using fundus-controlled perimetry (microperimetry). Functional loss was quantified as depth, size, and localization of scotomata. RESULTS: Both the Titmus and the TNO test revealed significantly reduced stereoscopic vision in patients compared to controls (p < 0.0001 for both). This applied even to patients with only relative or monocular paracentral scotoma. A strong correlation was observed for reduced stereoscopic vision with horizontal scotoma size and with the distance of scotomata from the foveal center. CONCLUSIONS: The results indicate that stereoscopic vision is impaired early in patients with MacTel type 2. A paracentral sensitivity loss, even if mild and limited to one eye, may considerably interfere with stereoscopic function despite normal visual acuity. Projection of paracentral scotomata within the patient's central visual field plays an important role in stereoscopic vision and should be considered when interpreting stereoscopic test results.


Asunto(s)
Percepción de Profundidad/fisiología , Mácula Lútea/patología , Telangiectasia Retiniana/fisiopatología , Visión Binocular/fisiología , Campos Visuales/fisiología , Anciano , Estudios Transversales , Progresión de la Enfermedad , Femenino , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Telangiectasia Retiniana/diagnóstico , Agudeza Visual
2.
Ophthalmology ; 116(6): 1201-9.e1-2, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19376587

RESUMEN

PURPOSE: To describe fundus autofluorescence (FAF) in carriers of choroideremia (CHM), and to compare FAF findings with ophthalmoscopy and electrophysiologic and psychophysical data. DESIGN: Prospective, observational case series and systematic review. PARTICIPANTS: Six unrelated carriers of CHM. METHODS: Clinical examination included a comprehensive ophthalmic examination, fundus photography, FAF, kinetic perimetry, 2-color threshold perimetry (2CTP), full-field electroretinography (ERG), and multifocal ERG (mfERG). All 6 carriers (33-60 years of age) were screened for mutations in the coding region of Rab Escort Protein 1 gene (REP1) including close flanking intronic sequence and deletions within 2160 bp of 5' untranslated sequence. MAIN OUTCOME MEASURES: Intensity and distribution of FAF, rod sensitivity loss, cone sensitivity loss in 2CTP, amplitude and latency in full-field ERG, amplitude in mfERG, and correlation of all 3 parameters. RESULTS: Mutations in the coding region of REP1 were identified in 3 of 6 carriers. All 6 carriers had good visual acuity. Three carriers complained of photophobia and 1 of impaired vision in dim light. Ophthalmoscopy revealed peripapillary atrophy and retinal pigment epithelium (RPE) mottling mainly in the macular region, and additional RPE clumping and flecks of atrophy in the periphery. A very irregular pattern of low- and high-density FAF speckles was seen. Low-density FAF surrounding the optic nerve head corresponded with the peripapillary atrophy. In areas of major FAF changes, mfERG was deteriorated. The 2CTP images revealed functional disturbances in rods and cones. No general pattern was observed. On MfERG, reduced amplitudes in areas with normal cone sensitivity in 2CTP were seen. CONCLUSIONS: All 6 carriers of CHM showed a characteristic FAF pattern that can guide mutation analysis. Even when other functional testing is inconspicuous, FAF is a rapid, noninvasive indicator. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any of the materials discussed in this article.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Coroideremia/genética , Coroideremia/fisiopatología , Fondo de Ojo , Heterocigoto , Mutación , Retina/fisiopatología , Adulto , Análisis Mutacional de ADN , Electrofisiología , Electrorretinografía , Femenino , Fluorescencia , Humanos , Masculino , Persona de Mediana Edad , Oftalmoscopía , Linaje , Fenotipo , Estudios Prospectivos , Agudeza Visual/fisiología , Pruebas del Campo Visual , Campos Visuales/fisiología
3.
Ophthalmologica ; 218(2): 141-3, 2004.
Artículo en Inglés | MEDLINE | ID: mdl-15004505

RESUMEN

INTRODUCTION: Ophthalmological manifestations of systemic malignancies can be either direct, metastatic or paraneoplastic. The latter are remote effects of carcinoma, often caused by autoantibodies. Ophthalmological manifestations include cancer-associated retinopathy, melanoma-associated retinopathy, opsoclonus-myoclonus syndrome or motility disorders due to effects on the neurological system. A unilateral tonic pupil is usually a benign finding but has also been described in the context of paraneoplastic syndromes, in some cases associated with anti-Hu antibodies. CASE REPORTS: The authors describe 2 patients with bilateral symptomatic tonic pupils due to a paraneoplastic syndrome. Both patients had been treated for small cell lung cancer and had evidence of anti-Hu antibodies (autoantibodies against nuclei of neural cells) in serum and cerebrospinal fluid. Both had typical pupillary findings and hypersensitivity to diluted pilocarpine. The first patient also had sensory neuronopathy, the second affection of several cranial nerves. DISCUSSION: To the best of our knowledge, to date no case of bilateral tonic pupils has been published due to a paraneoplastic disorder with evidence of autoantibodies. This is surprising, as it is probable that autoantibodies in paraneoplastic disorders affect both ciliary ganglions in a similar way.


Asunto(s)
Autoanticuerpos/sangre , Carcinoma de Células Pequeñas/complicaciones , Neoplasias Pulmonares/complicaciones , Proteínas del Tejido Nervioso/inmunología , Síndromes Paraneoplásicos/complicaciones , Proteínas de Unión al ARN/inmunología , Pupila Tónica/etiología , Anciano , Carcinoma de Células Pequeñas/patología , Carcinoma de Células Pequeñas/terapia , Terapia Combinada , Proteínas ELAV , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Humanos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/terapia , Persona de Mediana Edad , Síndromes Paraneoplásicos/patología , Pupila Tónica/inmunología
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