A proposal for an updated staging system for LCHADD retinopathy

Area of Science:

• Ophthalmology
• Medical Genetics
• Retinal Imaging

Background:

• Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (LCHADD) and trifunctional protein deficiency (TFPD) can cause chorioretinopathy.
• Existing staging systems for LCHADD chorioretinopathy have limitations with newer diagnostic modalities.

Purpose of the Study:

• To develop an updated, more precise staging system for LCHADD chorioretinopathy.
• To incorporate findings from contemporary multimodal imaging and electrophysiology.

Main Methods:

• Evaluated 40 patients with genetically confirmed LCHADD or TFPD.
• Utilized wide-field fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), and full-field electroretinogram (ffERG).
• Graded imaging and electrophysiology data for severity using a novel classification approach.

Main Results:

• A novel staging system was developed with substages (A and B) for stages 2 and 3.
• This system better delineates the progression of LCHADD retinopathy compared to previous methods.
• Seven patients were reclassified under the new system due to limitations of the old one.

Conclusions:

• The proposed staging system enhances the classification of LCHADD chorioretinopathy.
• It offers a more reliable reference for understanding disease progression and guiding future therapeutic research.