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Genotype-Specific Lesion Growth Rates in Stargardt Disease.

Rachael C Heath Jeffery1,2, Jennifer A Thompson3, Johnny Lo4

  • 1Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, WA 6009, Australia.

Genes
|December 24, 2021
PubMed
Summary

Growth rates of atrophic lesions in Stargardt disease (STGD1) depend on specific ABCA4 gene mutations. Certain mutations, like c.3113C>T and c.6079C>T, show faster lesion growth than others, impacting disease progression.

Keywords:
ABCA4Stargardt diseasefundus autofluorescencegrowth ratenatural history study

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • Stargardt disease (STGD1) is an inherited retinal degeneration characterized by progressive vision loss.
  • The growth rate (GR) of atrophic lesions in STGD1 exhibits significant variability.
  • Biallelic mutations in the ABCA4 gene are the primary genetic cause of STGD1.

Purpose of the Study:

  • To investigate the longitudinal natural history of STGD1 based on specific ABCA4 gene mutations.
  • To quantify and compare the effective radius growth rate (GR) of atrophic lesions across different ABCA4 genotype groups.
  • To analyze the age of definitely decreased autofluorescence (DDAF) formation and its relationship with symptom onset.

Main Methods:

  • Longitudinal study of STGD1 patients with confirmed biallelic ABCA4 mutations from five distinct genotype groups.
  • Manual segmentation of fundus autofluorescence (AF) images to determine the boundaries of DDAF.
  • Calculation of effective radius GR and age at DDAF formation for each patient eye.

Main Results:

  • Significant differences in effective radius GR were observed among the five ABCA4 genotype groups.
  • Patients with c.3113C>T or c.6079C>T mutations exhibited a faster effective radius GR (0.17 mm/year) compared to those with c.5882G>A (0.06 mm/year).
  • The timing of DDAF formation relative to symptom onset varied, suggesting genotype-specific disease progression patterns.

Conclusions:

  • Genotype significantly influences the effective radius GR in STGD1 patients.
  • The timing of DDAF formation in relation to symptom onset is also genotype-dependent.
  • Clinical trial designs for STGD1 should incorporate genotype-specific considerations for effective radius GR and DDAF formation timing.