Best Disease

This 44 year old woman had a diagnosis of Best Disease made at age 44. This inherited retinal disease occurs in both men and women. It causes an accumulation of metabolic waste products (lipofuscin) under the macula leading to blurry or distorted vision. Although legal blindness can occur after years of disease, this condition typically does not result in peripheral vision loss. In the early stages of Best disease, the typical lesion has an egg yolk appearance, whence the name vitelliform. This is later replaced with atrophy and scarring. In this patient's fundus images, vitelliform lesions are indicated by white arrows. Fluorescein autofluorescence (FAF) images show irregular hyperreflectivity from lipofuscin that has deposited in the macula (green arrows). Her right eye has more advanced disease than her left and this can be seen comparing her optical coherence tomography (OCT) scans. In her right eye, there is a loss of the outer retinal layers and pigment epithelium, which corresponds with the hypofluorescent area in the FAF image (yellow arrows). In her left eye, splitting of the retinal layers is seen and is caused by an accumulation of subretinal fluid (blue arrow). Her initial visual acuity was 20/20 in the right eye and 20/30 in the left. At her most recent exam, her vision was 20/40 in both eyes. Her visual acuity is not severely affected because the lesions were eccentric to the fovea. Common genetic mutations associated with Best disease include mutations of the BEST1 and PRPH2 genes. There is currently no treatment for Best disease, but low vision aids are useful in advanced cases.