Insights Into PROM1-Macular Disease Using Multimodal Imaging.

ABSTRACT:

Purpose

To describe the features of genetically confirmed PROM1-macular dystrophy in multimodal images.

Methods

Thirty-six (36) eyes of 18 patients (5-66 years; mean age, 42.4 years) were prospectively studied by clinical examination and multimodal imaging. Short-wavelength autofluorescence (SW-AF) and quantitative fundus autofluorescence (qAF) images were acquired with a scanning laser ophthalmoscope (HRA+OCT, Heidelberg Engineering) modified by insertion of an internal autofluorescent reference. Further clinical testing included near-infrared autofluorescence (NIR-AF; HRA2, Heidelberg Engineering) with semiquantitative analysis, spectral domain-optical coherence tomography (HRA+OCT) and full-field electroretinography. All patients were genetically confirmed by exome sequen

SUBMITTER: Paavo M 

PROVIDER: S-EPMC10148657 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature