Fast Five Quiz: Diagnosis of Inherited Retinal Diseases

Donny W. Suh, MD, MBA;  Raj K. Maturi, MD


March 31, 2023

Best disease, also known as vitelliform macular dystrophy, is commonly inherited in an autosomal dominant pattern and is caused by a mutation in the BEST1 or VMD2 gene. Primarily affecting the retinal pigment epithelium (RPE), Best disease is a form of macular degeneration with six clinical stages. It characteristically presents in childhood with macular "egg-yolk" lesions in both eyes on examination; visual acuity is usually preserved. Electro-oculography is the most common diagnostic test for diagnosing Best disease. It typically reveals a reduced Arden ratio ≤ 1.50 (normal is ≥ 1.85) in both patients and carriers.

Electroretinography results are normal in Best disease. Visual acuity is generally preserved in Best disease but can decline after disruption of the "egg yolk."

To rule out choroidal neovascular membrane, fluorescein angiography is used. Areas of low fluorescence are seen secondary to vitelliform deposits.

Learn more about Best disease.


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