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CDH23-associated Usher syndrome: genotype-phenotype correlations.

Thales A C de Guimaraes1,2,3,4,5, Marcos Espinosa3, Juan Carlos Romo-Aguas1,2

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|February 19, 2026
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Summary

Investigating CDH23 variants in Usher syndrome type 1D (USH1D) reveals a trend towards milder phenotypes with non-loss-of-function variants. However, no statistically significant differences were found in key retinal parameters across genotype groups.

Keywords:
CDH23Usher syndromegenotype‐phenotyperetinitis pigmentosa

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Degeneration

Background:

  • Usher syndrome type 1D (USH1D) is a genetic disorder characterized by hearing loss and retinitis pigmentosa.
  • Mutations in the CDH23 gene are a common cause of USH1D.
  • Genotype-phenotype correlations are crucial for understanding disease progression and potential therapeutic targets.

Purpose of the Study:

  • To investigate genotype-phenotype correlations in patients with CDH23-associated USH1D.
  • To compare retinal imaging parameters based on the type of CDH23 variants (loss-of-function vs. non-loss-of-function).

Main Methods:

  • Retrospective review of clinical notes and retinal imaging (fundus autofluorescence, optical coherence tomography).
  • Classification of subjects into three groups based on CDH23 variant combinations: two loss-of-function (G1), one loss-of-function/one non-loss-of-function (G2), and two non-loss-of-function (G3).
  • Comparison of age of onset, best-corrected visual acuity (BCVA), ellipsoid zone width (EZW), and outer nuclear layer (ONL) thickness.

Main Results:

  • No statistically significant differences in age of onset (p=0.19) or BCVA (p=0.1) were observed between groups.
  • Only one patient in the G3 group (non-loss-of-function variants) showed EZW loss.
  • No significant differences in baseline or final ONL thickness (p=0.84) or the rate of ONL thinning (p=0.66) were found between groups.

Conclusions:

  • While a trend towards a milder phenotype was suggested in patients with at least one non-loss-of-function CDH23 variant, statistical significance was not reached for the assessed parameters.
  • Further research with larger cohorts may be needed to confirm these genotype-phenotype correlations in CDH23-associated USH1D.