Enfermedad de Best multifocal: la importancia de los test genéticos / Multifocal Best's disease: The importance of genetic tests

RESUMEN

Objetivos y métodos: Nuestro objetivo es describir una variante multifocal en la presentación de la enfermedad de Best. Las lesiones en esta enfermedad pueden variar en forma y tamaño, algunas llegan a medir un diámetro de disco y presentan un contorno irregular. Describimos el caso de un varón de 21 años que fue remitido por pérdida visual progresiva. Confirmamos su baja agudeza visual y realizamos un examen completo, donde pudimos apreciar flecks maculares con pigmento amarillento en su periferia. Sospechamos de una enfermedad de Best multifocal y realizamos los test genéticos pertinentes. La enfermedad de Best multifocal es parecida a la forma clásica, aunque suele cursar con electrooculograma normal y sin antecedentes familiares de la misma. Conclusión: La enfermedad de Best multifocal debe ser sospechada en el caso de lesiones múltiples vitelorruptivas cercanas al polo posterior. Las pruebas genéticas constituyen la clave diagnóstica (AU)

ABSTRACT

Objectives and methods: Our objective is to describe a multifocal vitelliform presentation of Best's disease. The lesions in this disease may vary in size and shape, some may be a disc diameter in size, and often have some irregularity in their contour. The case is described of a 21-year-old male patient referred to our ophthalmology department due to a progressive loss of vision. His poor visual acuity was confirmed, and a complete examination was performed, in which macular flecks were observed, with yellow pigment arranged in oval distribution near their periphery. Due to the suspicion of Best's multifocal disease, genetic tests were performed. Multifocal vitelliform disease with the same features as those in Best's disease occurs most frequently in patients with a normal electro-oculogram (EOG), and a normal family history. Conclusion: Best's multifocal disease must be suspected in case of multiple vitelliruptive lesions close to the posterior pole. Genetic testing is essential for its diagnosis (AU)