RESUMEN
PURPOSE: To perform a comprehensive review and to investigate the presence and role of autoimmune antibodies in 25 cases of acute zonal occult outer retinopathy (AZOOR) identified using the classification originally proposed by J. Donald Gass. DESIGN: Observational case series. METHODS: Setting: Institutional. STUDY POPULATION: Twenty-five patients were identified by characteristic symptoms (abrupt onset of photopsias, followed by large scotomata at or connected to the blind spot), ocular findings (paucity of pigmentary changes with no sign of vitreous inflammation and abnormal electroretinogram in at least 1 eye), and a negative family history for retinitis pigmentosa. OBSERVATION PROCEDURES: Patients underwent a full comprehensive ophthalmologic examination, fundus retinography, Goldmann kinetic visual field (GVF), and full-field electroretinogram (ffERG). Blood samples were also obtained to verify for the presence of antiretinal antibodies by Western blot analysis. MainOutcome Measures: Clinical presentation, best-corrected visual acuity (BCVA), fundus abnormalities, visual field defects, ffERG changes, and presence of antiretinal antibodies. RESULTS: Sixteen patients (64%) presented with photopsias, 56% (14/25) with night blindness, and 56% (14/25) with loss of peripheral vision. Sixty-four percent (16/25) of cases were bilateral. All patients demonstrated retinal vascular attenuation, optic nerve head pallor, and mottling of retinal pigment epithelium. The most common visual field changes included enlargement and expansion of the blind spot extending into large pericentral or other types of scotomata (64%). Both scotopic and photopic ffERG values were abnormal and affected to a similar degree in our patients. Nine patients (36%) had a greater than 20% asymmetry in ERG values between the 2 eyes. All patients had antiretinal antibodies on Western blot with an average of 6.6 bands. CONCLUSION: Evidence suggests that AZOOR is a unique form of autoimmune retinopathy and retinal manifestation suggests possible antiretinal antibody leakage from the disc margin with spread of immune products under the retina, resulting in large scotomata that connect to the optic nerve head.
Asunto(s)
Autoanticuerpos/sangre , Autoinmunidad , Escotoma/inmunología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Western Blotting , Electrorretinografía , Femenino , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Escotoma/sangre , Escotoma/diagnóstico , Tomografía de Coherencia Óptica , Síndromes de Puntos Blancos , Adulto JovenRESUMEN
PURPOSE: Our aim was to use molecular biological methods to study evidence of autoimmune disease in five patients with acute zonal occult outer retinopathy (AZOOR). METHODS: Ophthalmologic data and sera were collected from all patients, who underwent visual field (VF) examination, optical coherence tomography (OCT), and multifocal electroretinogram (mfERG) recording. Serum was prepared from each patient's blood and analyzed for antiretinal antibody activity using immunohistochemistry and Western blot analysis on mouse and human retinas. We also searched for antigen proteins using mass spectrometry. RESULTS: Symptoms were blurred vision in three patients and VF defects in two; all had enlargement of the Mariotte blind spot by VF testing. OCT findings in areas corresponding to the scotoma revealed disruptions of junction borders between inner and outer segment lines. mfERGs amplitudes were reduced in each corresponding scotoma area. Immunohistochemical serum staining revealed the target antigen was present in all photoreceptors of the mouse sensory retina. Western blot analysis using patient serum samples revealed some possible candidate antigens. Mass spectrometry could not determine the causative antigen; however, a list of candidates was discovered. CONCLUSION: We determined that AZOOR could be an autoimmune disease. All AZOOR patients tested using molecular biological methods had antiretinal antigens.
Asunto(s)
Autoanticuerpos/sangre , Autoantígenos/inmunología , Enfermedades Autoinmunes/inmunología , Escotoma/inmunología , Adulto , Anciano , Animales , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/fisiopatología , Western Blotting , Niño , Electroforesis en Gel de Poliacrilamida , Electrorretinografía , Femenino , Humanos , Masculino , Ratones , Ratones Endogámicos C57BL , Escotoma/diagnóstico , Escotoma/fisiopatología , Espectrometría de Masas en Tándem , Tomografía de Coherencia Óptica , Agudeza Visual/fisiología , Campos Visuales/fisiología , Síndromes de Puntos Blancos , Adulto JovenAsunto(s)
Autoanticuerpos/sangre , Retina/inmunología , Enfermedades de la Retina/inmunología , Enfermedad Aguda , Adulto , Autoinmunidad , Femenino , Angiografía con Fluoresceína , Técnica del Anticuerpo Fluorescente Indirecta , Humanos , Masculino , Microscopía Confocal , Enfermedades de la Retina/diagnóstico , Escotoma/diagnóstico , Escotoma/inmunología , Pruebas del Campo Visual , Campos VisualesRESUMEN
PURPOSE: To report novel immunoreactivity in a patient with melanoma-associated retinopathy. DESIGN: Retrospective case report and experimental study. METHODS: A 32-year-old woman with a history of metastatic melanoma presented with bilateral decreased visual acuity. Electroretinography, Goldmann perimetry, immunohistochemistry, and Western blotting of her serum were performed. RESULTS: Electroretinography showed a "negative" B-wave. Paracentral and central scotomas were observed on Goldmann perimetry. Antibodies to a retinal transducin were demonstrated by Western blotting. No immunoreactivity to retinal bipolar cells was detected by immunohistochemistry. CONCLUSION: Melanoma-associated retinopathy can be related to a variety of antiretinal antibodies. Recognition of transducin, a novel melanoma-associated retinopathy antigen, may be important for identifying and treating patients with night blindness and melanoma.
Asunto(s)
Autoanticuerpos/análisis , Autoantígenos/inmunología , Melanoma/complicaciones , Síndromes Paraneoplásicos/inmunología , Enfermedades de la Retina/inmunología , Neoplasias Cutáneas/complicaciones , Transducina/inmunología , Adulto , Western Blotting , Electrorretinografía , Femenino , Humanos , Técnicas para Inmunoenzimas , Metástasis Linfática , Melanoma/secundario , Ceguera Nocturna/diagnóstico , Ceguera Nocturna/etiología , Ceguera Nocturna/inmunología , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/etiología , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/etiología , Estudios Retrospectivos , Escotoma/diagnóstico , Escotoma/etiología , Escotoma/inmunología , Neoplasias Cutáneas/patología , Agudeza Visual , Pruebas del Campo VisualRESUMEN
A 49-year-old woman with immunoglobulin GK multiple myeloma developed progressive visual loss with bilateral upper and lower central arcuate scotomas. Funduscopic and electrophysiologic studies indicated bilateral optic neuropathy. The immunoglobulin G fraction of the patient's serum reacted with retinal ganglionic cells in bovine retina. The visual abnormalities remitted after myeloablative chemotherapy and disappearance of the paraprotein.