Related Experiment Video
Updated: Apr 1, 2026
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
Published on: August 24, 2018
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY
Yu Tung Wang1, Mongkol Tadarati, Hendrik P Scholl
1*Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland; and †Department of Ophthalmology, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand.
Purpose:
To describe visual acuity changes associated with several cycles of accumulation, disappearance, and reaccumulation of vitelliform material in Best disease, with fundus photographs, fluorescein angiograms, and optical coherence tomography images documenting these stages.
Methods:
Case report with 70 months of follow-up using fundus photography, fluorescein angiography, and optical coherence tomography to image the retina. A non-Hispanic white 33-year-old man with Best disease (positive for a mutation in the BEST1 gene, namely p.Tyr167Cys:c.500A>G).
Results:
The patient had a history of choroidal neovascularization (CNV) followed by scarring of the macula with sustained vision loss of ∼20/250 in the left eye when he was in his twenties. He subsequently presented in his thirties with acute vision loss in the right eye 3 times during a 70-month follow-up period. Each episode of vision loss in the right eye was preceded by several months of reaccumulation of vitelliform material in the macula apparent on fundus photographs, fluorescein angiograms, and optical coherence tomography, but no evidence of CNV on presentation. Each of the three episodes of vision loss in the right eye was followed by spontaneous gradual improvement in visual acuity over the next several months, correlating with decreasing amounts of the vitelliform material on clinical examination and fundus photographs. After the third documented recovery of visual acuity, at a time of stable vision, the patient developed CNV in the right eye, treated with intravitreal ranibizumab.
Conclusion:
This case demonstrates that vitelliform material can reaccumulate and resorb several times in Best disease, with temporary visual acuity decline after each episode of vitelliform material accumulation. There is a need for continued vigilance for the development of CNV in patients presenting with acute vision loss, although this patient developed CNV at a time of stable vision.
