The authors present their proposal for an updated staging system for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency retinopathy. This is a rare mitochondrial disease due to deficiency of the long chain fatty acid oxidation pathway. Forty patients who were part of a prospective observational study were included. They each underwent widefield fundus photography and autofluorescence imaging, macular optical coherence tomography (OCT) and OCT angiography, and full field electroretinography (ERG). The imaging was staged according to the current classification system, which does not include OCT imaging or autofluorescence, by two graders. The authors identify OCT and autofluorescence features which can be used to further refine the existing classification criteria. They also propose the modification of the criteria used for staging disease by ERG and suggest that fluorescein angiography is no longer required given advances in OCT angiography. This work updates the current classification system of LCHADD to consider the availability of modern imaging modalities and electrophysiology. As ophthalmology enters the age of genetic medicine it will be important to have agreed classification systems for many rare diseases which may be amenable to gene therapies, for clinical use and for the harmonised reporting of study outcomes.
Updated staging of LCHADD retinopathy
Reviewed by Ian Reekie
A proposal for an updated staging system for LCHADD retinopathy.
CONTRIBUTOR
Ian Reekie
Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK.
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