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@#AIM: To explore the characteristics and application value of ultra-wide-field auto-fluorescence in Stargardt disease. <p>METHODS: A retrospective study of clinical characteristics and genetically confirmed Stargardt disease patients, using Optos P200Tx for ultra-wide-field auto-fluorescence imaging, and comparing the imaging features of traditional fundus color photographs, fundus 55° auto-fluorescence, and optical coherence tomography, to evaluate the ultra-wide-field auto-fluorescence in Stargardt disease image characteristics and advantages of clinical application. <p>RESULTS:All 76 eyes(100%)had high posterior auto-fluorescence, while only 42 eyes(55%)of traditional 55° auto-fluorescence showed obvious posterior high auto-fluorescence. Sixty-six eyes(87%)of the 76 eyes showed different numbers of spots, which were distributed from the posterior pole to the peripheral retina. UWAF can show clearer and more number of retinal spots than fundus color photographs, and more completely shows the number and distribution of spots area. All 76 eyes(100%)of the patients showed the oval low auto-fluorescence area induced by retinal pigment epithelium(RPE)atrophy in the center of the macula. As the disease progressed, the atrophy area expanded and the low fluorescence area expanded accordingly. Ultra-wide-field auto-fluorescence can completely display the atrophy range and area, but it cannot display in dystrophy depth. In 48 eyes(63%)ultra-wide-field auto-fluorescence, strong background auto-fluorescence was seen extending from the macula to the nasal and inferior temporal of the optic disc, forming a clear approximately vertical dividing line below the optic disc.<p>CONCLUSION: Ultra-wide-field auto-fluorescence changes in Stargardt are not limited to the posterior pole and may extend more peripherally. Ultra-wide-field imaging is a useful tool for the assessment of patients with Stargardt macular dystrophy.
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RESUMEN Introducción: La Enfermedad de Stargardt, o fundus flavimaculatus es la distrofia macular juvenil más frecuente, responsable hasta 7 % de las distrofias maculares. Pueden ser difíciles de abordar por diversos motivos. El diagnóstico diferencial a veces es difícil, y varias de estas enfermedades producen ceguera legal a una edad relativamente joven. Objetivo: Describir el proceso diagnóstico de una entidad poco común con forma de presentación infrecuente. Presentación de caso: Se presenta el caso de una paciente de 21 años de edad, de raza blanca, con el diagnóstico de Enfermedad de Stargardt con fundus flavimaculatus. El diagnóstico se realizó teniendo en consideración los antecedentes patológicos personales, el examen físico mediante la oftalmoscopía directa e indirecta, la agudeza visual sin y con corrección, test de visión al color, angiografía fluoresceínica, tomografía de coherencia óptica (OCT) y electroretinograma. Se realizó una investigación de dicho tema por lo poco frecuente que resultan estas dos variantes de una misma enfermedad en la primera década de la vida. Conclusiones: La mayoría de las distrofias retinianas tiene desde el punto de vista clínico sus semejanzas, en cambio su evolución y pronóstico pueden ser diferentes.
ABSTRACT Introduction: Stargardt´s Disease or fundus flavimaculatus is the most frequent juvenile macular dystrophy that is responsible for 7 % of macular dystrophies. They can be difficult to address because of several reasons. The differential diagnosis is sometimes difficult to make and some of these diseases can cause legal blindness at a relatively young age. Objective: To describe the diagnostic process of an unusual entity with an infrequent form of presentation. Case presentation: We present a case of a 21-year-old white female patient with the diagnosis of Stargardt´s Disease with fundus flavimaculatus. The diagnosis was made taking into account personal pathological antecedents, the physical examination by direct and indirect ophthalmoscopy, assessment of visual acuity with and without correction, color vision test, fluorescein angiography, optical coherence tomography (OCT), and electroretinogram. Research on the topic was carried out because of the unusual appearance of these two variants of the same disease in the first decade of life. Conclusions: The majority of retinal dystrophies are similar from the clinical point of view; however, their evolution and prognosis can be different.
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RESUMEN La enfermedad de Stargardt y el fondo flavimaculatus son variantes de una misma entidad nosológica, que constituyen la distrofia macular juvenil más frecuente, y una causa común de pérdida de visión central en adultos menores de 50 años. Se trata de una paciente femenina de 35 años con enfermedad de Stargardt, atendida en una unidad básica avanzada en salud del municipio de Vila Nova do Piauí, Brasil, que actualmente presenta baja capacidad visual. Se presenta una lesión macular localizada en la región foveal, de aspecto bronceado y pálido en la región temporal de la papila óptica. A nivel histológico, se produce un cúmulo de material tipo lipofuscina en las células del epitelio pigmentario de la retina, por la mutación del gen ABCA4. La incidencia de la enfermedad de Stargardt se sitúa alrededor de una persona afectada entre 10 000 y suele afectar a adolescentes y adultos jóvenes.
ABSTRACT Stargardt's disease and the flavimaculatus fund are variants of the same nosological entity. They constitute the most frequent juvenile macular dystrophy and common cause of central vision loss in adults under 50 years of age. A 35-year-old female patient who was diagnosed with Stargardt's disease currently suffers from low visual capacity. We present findings of a localized macular lesion in the foveal region of the bronzed and pale aspect in the temporal region of the optic papilla. At the histological level, a cluster of lipofuscin-like material is produced in the cells of the retinal pigment epithelium by the mutation of the ABCA4 gene. The incidence of Stargardt disease is around one person affected by 10,000 people and usually affects adolescents and young adults under 20 years old.
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Se presenta el caso de un paciente de 10 años de edad, de raza blanca, masculino, con el diagnóstico de enfermedad de Stargardt con fondo flavimaculatus. El diagnóstico se realizó por los antecedentes patológicos personales y el examen físico mediante la oftalmoscopia directa e indirecta, la agudeza visual sin y con corrección, , test de visión al color y retinografía. Se realizó una investigación de dicho tema por lo poco frecuente que resultan estas dos variantes de una misma enfermedad en la primera década de la vida.
The case of a patient of 10 years of age appears, of white race, masculine, with the diagnosis of disease of Stargardt with bottom flavimaculatus. The diagnosis was realized by the personal pathological antecedents and the physical examination by means of the direct and indirect ophthalmoscopy, the visual sharpness without and with correction, test of sensitivity to the resistance, test of vision to the color and retinography. An investigation of this subject by little frequent that was realized these two variants are from a same disease in the first decade of the life.