Drs Leo Sheck and Rachel Barnes with Cliff Harrison (centre)

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.

Donald Klaassen and Jaymie Rogers

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.

Next up, Dr Rachel Barnes launched the evening’s interactive element, quizzing the audience on potential diagnoses and preferred treatments. One case of malignant hypertension (controlled with medication) turned the audience into ‘treatment bullies’ with the vast majority voting for Avastin (anti-VEGF) injections in both eyes to tackle a still-swollen macula. Dr Barnes said she had opted for the far less popular option of treating only the more problematic left eye with Avastin. When she saw the patient one month later, she said both eyes looked better. This case highlighted the sometimes tricky conundrum of whether to treat or not to treat, said Dr Barnes, adding every so often in a case like this, just getting the blood pressure under control can be enough.

Sarah Hunt and Carolyn Campbell

Dr Leo Sheck wrapped up a great night with four more cases, one of which caught guests by surprise. After sharing detailed history and imagery from OCT, fundus autofluorescence and fluorescein angiography, most of the audience were in agreement with Dr Sheck’s diagnosis of peripapillary pachychoroid syndrome (PPS). When quizzed on treatment options, the audience opted for anti-VEGF injections or perhaps another round of fluorescein angiography imaging. Dr Sheck had instead decided on the least popular option, treating the patient with topical prednisolone (Pred Forte) anti-inflammatory eye drops. After four weeks, he observed a reduction in intraretinal fluid and swelling. To prove this novel concept wasn’t a fluke, Dr Sheck introduced his second case, another PPS and Pred Forte success story! Sharing the findings of a new study backing this new potential PPS treatment, Dr Sheck concluded an insightful evening.

For more on prednisolone as a potential treatment for PPS, see: https://journals.lww.com/retinalcases/Abstract/9000/Potential_Treatment_for_Peripapillary_Pachychoroid.98367.aspx