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Related Experiment Video

Updated: Jul 7, 2025

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Functional Vision in Patients With Biallelic USH2A Variants.

Elise Heon1, Michele Melia2, Laura E Bocchino2

  • 1From the Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto (E.H.), Toronto, Ontario, Canada.

American Journal of Ophthalmology
|December 22, 2023
PubMed
Summary

This study found that while USH2A variants cause a wide range of functional vision (FV) issues, the VALVVFQ-48 tool may not fully capture the impact on daily activities for Usher syndrome type 2 (USH2) and autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Vision Science

Background:

  • USH2A gene variants are linked to Usher syndrome type 2 (USH2) and autosomal recessive nonsyndromic retinitis pigmentosa (ARRP).
  • Understanding functional vision (FV) is crucial for assessing the impact of these genetic conditions on patients' daily lives.

Purpose of the Study:

  • To characterize functional vision (FV) in patients with biallelic USH2A variants.
  • To explore the correlations between FV, visual acuity (VA), and the hill of vision (V OT) at the study's outset.

Main Methods:

  • A multicenter, international, cross-sectional study involving 121 participants with biallelic USH2A variants.
  • Clinical diagnosis of USH2 or ARRP was confirmed through audiology and patient history.
  • The VALVVFQ-48 questionnaire was administered verbally, with VA and V OT measured to assess functional vision.

Main Results:

  • Functional vision (FV) scores varied widely, from -2.0 to 7.6 logits, with no significant difference between ARRP and USH2 groups.
  • Visual acuity (VA) and the hill of vision (V OT) each explained a substantial portion of the variance in FV scores (29% and 26%, respectively).
  • Together, VA and V OT accounted for 36% of the observed variance in functional vision.

Conclusions:

  • Biallelic USH2A variants are associated with a broad spectrum of functional vision impairments.
  • Despite hearing loss in USH2 patients, FV outcomes were comparable between USH2 and ARRP groups.
  • The modified VALVVFQ-48 may have limitations in fully assessing the daily living impacts of USH2A-related retinal degenerations.