Dataset Information

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 sequencing.

Results

All 18 patients presented with varying degrees of maculopathy. One family with individuals affected across two generations exhibited granular fleck-like deposits across the posterior pole. Areas of granular deposition in SW-AF and NIR-AF corresponded to intermittent loss of the ellipsoid zone, whereas discrete regions of hypoautofluorescence corresponded with a loss of outer retinal layers in spectral-domain optical coherence tomography scans. For 18 of the 20 eyes, qAF levels within the macula were within the 95% confidence intervals of healthy age-matched individuals; nor was the mean NIR-AF signal increased relative to healthy eyes.

Conclusions

Although PROM1-macular dystrophy (Stargardt disease 4) can exhibit phenotypic overlap with recessive Stargardt disease, significantly increased SW-AF levels were not detected. As such, elevated bisretinoid lipofuscin may not be a feature of the pathophysiology of PROM1 disease. The qAF approach could serve as a method of early differential diagnosis and may help to identify appropriate disease targets as therapeutics become available to treat inherited retinal disease.

SUBMITTER: Paavo M

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

REPOSITORIES: biostudies-literature

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Publications

Insights Into PROM1-Macular Disease Using Multimodal Imaging.

Paavo Maarjaliis M Lee Winston W Parmann Rait R Lima de Carvalho Jose Ronaldo JR Zernant Jana J Tsang Stephen H SH Allikmets Rando R Sparrow Janet R JR

Investigative ophthalmology & visual science 20230401 4

<h4>Purpose</h4>To describe the features of genetically confirmed PROM1-macular dystrophy in multimodal images.<h4>Methods</h4>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 autofluor ...[more]

PMID: 37093133

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Dataset Information

Insights Into PROM1-Macular Disease Using Multimodal Imaging.

Purpose

Methods

Results

Conclusions

Publications

Insights Into PROM1-Macular Disease Using Multimodal Imaging.

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