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This study examined PROM1-related inherited retinal diseases (IRDs) in Taiwanese patients, identifying five genetic variants. Spectral-domain optical coherence tomography (SD-OCT) is highlighted as a key diagnostic tool for these PROM1 IRDs.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Diagnostics

Background:

  • Inherited retinal diseases (IRDs) encompass a group of genetic disorders affecting vision.
  • Mutations in the PROM1 gene are associated with specific types of IRDs.
  • Understanding the clinical spectrum of PROM1-related IRDs is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate the clinical characteristics of patients with PROM1-related inherited retinal diseases (IRDs).
  • To identify and characterize PROM1 gene variants associated with IRDs in a Taiwanese cohort.
  • To evaluate the utility of various imaging modalities in diagnosing PROM1-related IRDs.

Main Methods:

  • Clinical data and best-corrected visual acuity were collected from 14 patients with IRDs and PROM1 mutations across two Taiwanese hospitals.
  • Phenotypic analysis included color fundus (CF) photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), and electroretinograms (ERGs).
  • Whole exome sequencing and Sanger sequencing were employed to detect and verify PROM1 variants.

Main Results:

  • Fourteen patients from nine families with PROM1-related IRDs were analyzed.
  • Common findings included macular chorioretinal atrophy, hypo-autofluorescence, outer retinal tubulations, and retinal thinning on SD-OCT.
  • Electroretinograms (ERGs) showed variable responses, indicating diverse impacts on retinal function.
  • Five distinct PROM1 variants (c.139del, c.794del, c.1238T>A, c.2110C>T, and c.1117C>T) were identified.

Conclusions:

  • The study characterized 14 Taiwanese patients with five PROM1 variants, contributing to the understanding of PROM1-related IRDs.
  • Incomplete penetrance of heterozygous PROM1 variants was observed.
  • Autosomal dominant PROM1 variants were associated with lesions in both macular and peripheral retinal regions.
  • Spectral-domain optical coherence tomography (SD-OCT) is a valuable tool for the early detection of characteristic signs in PROM1-related IRDs.