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Updated: Feb 7, 2026

Single-cell Suction Recordings from Mouse Cone Photoreceptors
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Single-cell Suction Recordings from Mouse Cone Photoreceptors

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CASK hypomorph mice display cone photoreceptor dysfunction

Sheida Hashemi1, Sara Y Sabbagh1, Khushi Talajia1

  • 1Department of Genetics, University of Alabama at Birmingham, AL 35233, USA.

Biorxiv : the Preprint Server for Biology
|February 6, 2026
PubMed

Insights

X-linked CASK gene variants cause neurodevelopmental issues. This study reveals CASK suppression in mice leads to cone receptor dysfunction and reduced visual acuity, suggesting a link to retinopathy.

Area of Science:

  • Neurogenetics
  • Ophthalmology
  • Developmental Biology

Background:

  • X-linked CASK gene variants are linked to neurodevelopmental disorders, including optic nerve hypoplasia (ONH).
  • Previous studies showed CASK loss-of-function (LOF) in animal models can cause ONH and other developmental defects.
  • CASK variants have been associated with various ocular conditions, including retinopathies.

Purpose of the Study:

  • To investigate the ocular phenotype of CASK knock-in (KI) mice with reduced CASK expression.
  • To determine if CASK suppression affects retinal structure, function, or gene expression.
  • To explore the underlying mechanisms of any observed retinal dysfunction.

Main Methods:

  • Systematic examination of CASK (KI) mice.
  • Assessment of anterior eye segment morphology.
  • Evaluation of visual acuity using optomotor response tests.
  • Analysis of retinal structure, vasculature, and gene expression.
  • Functional assessment of retinal photoreceptors using electroretinogram (ERG).

Main Results:

  • CASK (KI) mice exhibited no obvious anterior segment eye defects.
  • Reduced visual acuity was observed in CASK (KI) mice.
  • Retinal structure and vasculature remained largely unchanged, but cone receptor dysfunction was detected via ERG.
  • Lowered levels of cone-specific opsin (opsin1mw) were identified as the cause of cone dysfunction.

Conclusions:

  • CASK suppression in mice leads to specific cone photoreceptor dysfunction and reduced visual acuity.
  • This study is the first to describe retinal dysfunction in an animal model with CASK gene suppression.
  • CASK LOF may contribute to retinopathy, similar to its association with ONH and cerebellar hypoplasia.
Keywords:
CASKMICPCHOptic nerve hypoplasiacone receptorelectroretinogramretinopathy

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