A proposal for an updated staging system for LCHADD retinopathy.

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,

SUBMITTER: Wongchaisuwat N 

PROVIDER: S-EPMC11010772 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature