After a long hiatus of in-person optometry education, it was nice to physically attend Retina Specialists’ winter seminar at the Foundation on George in Parnell, Auckland, and looking around the room, it was clear I wasn’t the only one feeling a little excited about this return to normality.
As guests enjoyed delicious food and drinks, Associate Professor Andrea Vincent kicked off the evening with a discussion about scrambled or sunny-side-up. She wasn’t referring to how you like your eggs, however, but the appearance of vitelliform lesions visible in the early stages of Best genetic eye disease. Best, also known as vitelliform macular dystrophy, affects one in 10,000 individuals. As it progresses, the lesion begins to break up and the yolk-like lesion takes on a scrambled appearance, often affecting acuity.
Best-case scenario
Best disease is typically associated with mutations in the BEST1 gene, mostly inherited in a dominant pattern from either parent. It can also occur as a new gene change in the affected individual, as with one of A/Prof Vincent’s cases. After an initial genetic test lab mishap, A/Prof Vincent’s second case demonstrated not everyone who inherits a faulty gene develops symptoms. Affected individuals, however, usually develop blurred or distorted central vision between the ages of 30 and 50. Although there’s currently no treatment for Best disease, A/Prof Vincent said gene therapy trials are underway, which have reversed the disease in dogs.
