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IMPG2-Related Maculopathy.

Johannes Birtel1, Richard Caswell2, Samantha R De Silva3

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American Journal of Ophthalmology
|October 8, 2023
PubMed
Summary

Mutations in the IMPG2 gene can cause maculopathy with varying severity and penetrance. This condition, often linked to retinitis pigmentosa, typically affects the fovea and may lead to moderate vision loss.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • IMPG2 (Intramembrane Protein 2) gene mutations are associated with retinal disorders.
  • Understanding the clinical spectrum of IMPG2-related maculopathy is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate the phenotype, variability, and penetrance of maculopathy associated with IMPG2 gene variants.
  • To explore the molecular mechanisms underlying IMPG2-related maculopathy.

Main Methods:

  • Retrospective observational case series.
  • Clinical evaluation, multimodal retinal imaging, and genetic testing.
  • Molecular modeling of IMPG2 variants.

Main Results:

  • 17 out of 25 individuals with mono-allelic IMPG2 variants presented with maculopathy, characterized by foveal changes and variable visual acuity.
  • Longitudinal observations showed stable maculopathy in some, while others experienced resorption or increase of subretinal material.
  • Eight asymptomatic individuals with IMPG2 variants showed minimal foveal changes, indicating incomplete penetrance.

Conclusions:

  • Mono-allelic IMPG2 variants can lead to haploinsufficiency, causing maculopathy with variable expressivity and penetrance.
  • Vitelliform lesions may be observed in family members of patients with IMPG2-related retinitis pigmentosa.
  • IMPG2-related maculopathy is often fovea-limited and associated with moderate visual impairment.