A proposal for an updated staging system for LCHADD retinopathy
2
Issued Date
2024-01-01
Resource Type
ISSN
13816810
eISSN
17445094
Scopus ID
2-s2.0-85183839007
Pubmed ID
38288966
Journal Title
Ophthalmic Genetics
Rights Holder(s)
SCOPUS
Bibliographic Citation
Ophthalmic Genetics (2024)
Suggested Citation
Wongchaisuwat N., Gillingham M.B., Yang P., Everett L., Gregor A., Harding C.O., Sahel J.A., Nischal K.K., Scanga H.L., Black D., Vockley J., Arnold G., Pennesi M.E. A proposal for an updated staging system for LCHADD retinopathy. Ophthalmic Genetics (2024). doi:10.1080/13816810.2024.2303682 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/97138
Title
A proposal for an updated staging system for LCHADD retinopathy
Corresponding Author(s)
Other Contributor(s)
Abstract
Objective: To develop an updated staging system for long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (LCHADD) chorioretinopathy based on contemporary multimodal imaging and electrophysiology. Methods: We evaluated forty cases of patients with genetically confirmed LCHADD or trifunctional protein deficiency (TFPD) enrolled in a prospective natural history study. Wide-field fundus photographs, fundus autofluorescence (FAF), optical coherence tomography (OCT), and full-field electroretinogram (ffERG) were reviewed and graded for severity. Results: Two independent experts first graded fundus photos and electrophysiology to classify the stage of chorioretinopathy based upon an existing published system. With newer imaging modalities and improved electrophysiology, many patients did not fit cleanly into a single traditional staging group. Therefore, we developed a novel staging system that better delineated the progression of LCHADD retinopathy. We maintained the four previous delineated stages but created substages A and B in stages 2 to 3 to achieve better differentiation. Discussion: Previous staging systems of LCHADD chorioretinopathy relied on only on the assessment of standard 30 to 45-degree fundus photographs, visual acuity, fluorescein angiography (FA), and ffERG. Advances in recordings of ffERG and multimodal imaging with wider fields of view, allow better assessment of retinal changes. Following these advanced assessments, seven patients did not fit neatly into the original classification system and were therefore recategorized under the new proposed system. Conclusion: The new proposed staging system improves the classification of LCHADD chorioretinopathy, with the potential to lead to a deeper understanding of the disease’s progression and serve as a more reliable reference point for future therapeutic research.