Assuntos
Infecções Estreptocócicas , Vasculite/microbiologia , Administração Oral , Administração Tópica , Angiografia , Anti-Inflamatórios/administração & dosagem , Atropina/administração & dosagem , Betametasona/administração & dosagem , Criança , Corantes , Quimioterapia Combinada , Eletrorretinografia , Seguimentos , Fundo de Olho , Humanos , Verde de Indocianina , Injeções Intravenosas , Masculino , Prednisolona/administração & dosagem , Tomografia de Coerência Óptica , Vasculite/diagnóstico , Vasculite/tratamento farmacológicoAssuntos
Oftalmopatias Hereditárias/fisiopatologia , Infecções Oculares Virais/fisiopatologia , Fundo de Olho , Infecções por HTLV-I/fisiopatologia , Doenças Retinianas/fisiopatologia , Uveíte/fisiopatologia , Oxirredutases do Álcool/genética , Eletrorretinografia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Infecções Oculares Virais/tratamento farmacológico , Feminino , Angiofluoresceinografia , Anticorpos Anti-HTLV-I/sangue , Infecções por HTLV-I/tratamento farmacológico , Humanos , Pessoa de Meia-Idade , Mutação , Cegueira Noturna/congênito , Cegueira Noturna/diagnóstico , Cegueira Noturna/genética , Reação em Cadeia da Polimerase , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética , Uveíte/virologiaRESUMO
PURPOSE: To determine the impairment of the transient pupillary light reflex (TPLR) due to severe retinal dysfunction and degeneration in a murine model of Leber congenital amaurosis (LCA) and in patients with the disease. METHODS: Direct TPLR was elicited in anesthetized, dark-adapted Rpe65(-/-) and control mice with full-field light stimuli (0.1 second duration) of increasing intensities (-6.6 to +2.3 log scot-cd. m(-2)). 9-cis-Retinal was administered orally to a subset of Rpe65(-/-) mice, and TPLR was recorded 48 hours after the treatment. TPLR was also measured in a group of patients with LCA. RESULTS: Baseline pupillary diameters in Rpe65(-/-) and control mice were similar. TPLR thresholds of Rpe65(-/-) mice were elevated by 5 log units compared with those of control animals. The waveform of the TPLR in Rpe65(-/-) mice was similar to that evoked by 4.8-log-unit dimmer stimuli in control mice. Treatment of Rpe65(-/-) mice with 9-cis-retinal lowered the TPLR threshold by 2.1 log units. Patients with LCA had baseline pupillary diameters similar to normal, but the TPLR was abnormal, with thresholds elevated by 3 to more than 6 log units. When adjusted to the elevation of TPLR threshold, pupillary constriction kinetics in most patients were similar to those in normal subjects. CONCLUSIONS: Pupillometry was used to quantify visual impairment and to probe transmission of retinal signals to higher nervous centers in a murine model of LCA and in patients with LCA. Mouse results were consistent with a dominant role of image-forming photoreceptors driving the early phase of the TPLR when elicited by short-duration stimuli. The objective and noninvasive nature of the TPLR measurement, and the observed post-treatment change toward normal in the animal model supports the notion that this may be a useful outcome measure in future therapeutic trials of LCA.
Assuntos
Cegueira/complicações , Proteínas/genética , Distúrbios Pupilares/etiologia , Reflexo Pupilar/fisiologia , Degeneração Retiniana/complicações , Adolescente , Adulto , Animais , Cegueira/congênito , Proteínas de Transporte , Criança , Pré-Escolar , Adaptação à Escuridão , Diterpenos , Eletrofisiologia , Proteínas do Olho , Feminino , Humanos , Lactente , Luz , Masculino , Camundongos , Camundongos Knockout , Pessoa de Meia-Idade , Distúrbios Pupilares/fisiopatologia , Degeneração Retiniana/genética , Retinaldeído/administração & dosagem , cis-trans-IsomerasesRESUMO
PURPOSE: To determine the electroretinographic properties of one patient with multifocal posterior pigment epitheliopathy. METHODS: Rod and cone electroretinograms (ERGs) and photopic ERGs elicited by long-duration stimuli were studied in a patient with multifocal posterior pigment epitheliopathy. RESULTS: The amplitudes of both the rod and cone ERGs were significantly reduced. Photopic ERGs elicited by long-duration stimuli demonstrated that the b-wave ("on" response) was abolished but the d-wave ("off" response) was reduced by only amplitude. CONCLUSION: The ERG findings in multifocal posterior pigment epitheliopathy indicate that there is dysfunction not only of the photoreceptors but also in the signal transmission specific for the "on" pathway.
