Best disease: clinical observation of a family case


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Abstract

The article presents a family case of Best vitelliform macular dystrophy (Best’s disease) - autosomal dominant macular dystrophy with typical clinical presentation and staging of the disease flow. A daughter and a mother had diagnosed Best’s disease with different localizations (central and eccentric) and stages (psevdogipopion and pseudocyst) of the disease in the right eye and the same (atrophic) - in the left eye. Apart from that, the daughter had the optic disc drusen. We proved descriptiveness of optical coherence tomography and fundus autofluorescence imaging for confirmation of Best’s disease diagnosis, determination of the stage of the disease and identification of changes that cannot be detected with ophthalmoscopy, in retina, pigment epithelium and Bruch's membrane.

About the authors

L. A Katargina

The Helmholtz Moscow Research Institute of Eye Diseases

105062, Moscow, Russia

Ekaterina Valer'evna Denisova

The Helmholtz Moscow Research Institute of Eye Diseases

Email: deale_2006@inbox.ru
105062, Moscow, Russia

D. I Ryabtsev

The Helmholtz Moscow Research Institute of Eye Diseases

105062, Moscow, Russia

References

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