Introduction:The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described.Methods:A complete history and ophthalmic examination, including fundus photography and autofluorescence imaging, was performed on twelve probands harbouring the A3243G point mutation.Results:Four patients had diabetes, 10/12 hearing loss, and 7/12 were visually symptomatic. A positive family history was present in 5/12. Fundus findings consisted of two primary phenotypes: discontinuous circumferentially oriented perifoveal atrophy (9/12) or an appearance consistent with pattern dystrophy (3/12). In both phenotypes pale deposits and pigment clumping were seen at the level of the retinal pigment epithelium, with occasional changes also noted outside the arcades and nasal to the optic nerve. Fundus AF imaging revealed decreased autofluorescence in areas of atrophy and increased AF of the pale subretinal deposits. In areas of the retina that appeared normal clinically, variable sized flecks of increased and decreased AF were present.Conclusions:The mitochondrial DNA A3243G point mutation can result in disease with a variable presentation. Fundus autofluorescence reveals a recognisable phenotype in most cases that is different from other macular dystrophies.

These findings suggest that retinal dysfunction in PXE may not be uncommon. The mechanism underlying retinal dysfunction is unknown but may result from metabolic disturbance leading to retinal toxicity with a possible role of modifying genetic or environmental factors rather than specific ABCC6 mutations.

Background In 2020, routine cataract surgery was halted in most countries due to the COVID-19 pandemic in order to reduce transmission. With a consequent lack of theatre space, we developed a safe cataract pathway in outpatient department clean rooms to minimize patient exposure and time spent in hospital using a sterile laminar air flow device. We describe our initial experiences of restarting elective cataract surgery in the UK outpatient setting, outside of the operating theatre environment. Methods This was a prospective consecutive study of our clinical practice. A sterile air zone unit, the Toul Meditech Operio Mobile device, was used to create a sterile surgical site in three separate outpatient clean rooms from May 2020 to December 2021 in different geographical locations within Herefordshire, UK. Observations of the time spent in the department and a formal patient satisfaction survey were carried out for the initial 100 patients. All patients were followed up to assess development of post-operative complications. Results 1269 patients were included in the study. No patients sustained post-operative infection ( n = 0/1269, 0%). For the initial 100 patients, the average time spent within the department was 74.3 min (unilateral cases, range 45–115 min) and 93.1 min (bilateral, 55–135 min). Patient satisfaction was high. Conclusion Initial results demonstrate a safe, efficient and effective cataract surgery pathway with high patient satisfaction by converting outpatient clean rooms into ophthalmic operating theatres using the Toul Meditech Operio Mobile.

No abstract