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Vol. 93. Issue 3.
Pages 136-138 (March 2018)
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Vol. 93. Issue 3.
Pages 136-138 (March 2018)
Short communication
DOI: 10.1016/j.oftale.2017.08.001
Multifocal Best's disease: The importance of genetic tests
Enfermedad de Best multifocal: la importancia de los test genéticos
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C. Alba Linero
Corresponding author
Carmen_kamsky@hotmail.com

Corresponding author.
, M. Rodríguez Calvo de Mora, M. España Contreras, C. Hernando Ayala
Departamento de Oftalmología, Hospital Regional Universitario de Málaga, Hospital Civil, Málaga, Spain
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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.

Keywords:
Retinal dystrophy
Best's disease
Multifocal Best's disease
Bestrophin
Genetic test
Optical coherence tomography
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.

Palabras clave:
Distrofia retiniana
Enfermedad de Best
Enfermedad de Best multifocal
Bestrofina
Test genéticos
Tomografía de coherencia óptica

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