Retina Specialists’ winter education evening is always a cosy affair that feels like you’ve been invited to dinner with friends, aside from the intriguing case deliberations that is!
First up was Associate Professor Andrea Vincent, who shared two case studies before a call from Starship prompted her early exit. Her first case, a middle-aged woman from the Cook Islands, had walked into the consult room with an unusually wide gait. A combination of pigmentary retinopathy, hearing loss (she had cochlear implants) and the obvious balance problem led her to suspect Usher syndrome. However, genetic testing showed the patient had a rare genetic disorder called PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract) syndrome caused by mutations in the ABHD12 gene.
A more common presentation, A/Prof Vincent’s second case involved a young woman (aged 23 years) who had just recovered from Covid-19 and had been referred by her optometrist due to a sudden onset of floaters and what she thought was scotoma around her peripheral vision. Infrared imaging showed some disruption of the macula and some darkening, while multifocal electroretinography confirmed there was a corresponding area of attenuation in the right eye while the left eye wasn’t quite as marked but similarly showed a slight reduction just nasal to the fovea.
With genetic testing inconclusive, A/Prof Vincent decided to review the patient in 12 months. At that point, the woman’s vision was pretty much unchanged. Comparing infrared imaging of the macula with the previous imaging, she noted that, while there was still disruption, the darker areas had definitely faded. Repeating the electrophysiology, it revealed an improvement, implying there had been a vascular event, possibly associated with the Covid-19 infection.
Increasingly, the literature is finding vascular events can occur in the retina in connection with Covid-19, including cotton-wool spots and retinal microhaemorrhages, she said. Covid-19 has also been associated with new-onset paracentral acute middle maculopathy and acute macular neuroretinopathy, although a definitive relationship between these conditions and Covid-19 is yet to be established, A/Prof Vincent concluded.












