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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Novel Bilateral Geographic Atrophy Phenotype Associated With CRX Mutation.

Cory A Christensen1, Neha Gupta1,2, Mark P Breazzano1,3

  • 1State University of New York Upstate Medical University, Department of Ophthalmology & Visual Sciences, Syracuse, NY, USA.

Journal of Vitreoretinal Diseases
|October 27, 2025
PubMed
Summary

A rare genetic mutation in the CRX gene caused an unusual form of retinal dystrophy, mimicking age-related macular degeneration. This case highlights a novel phenotype presenting as geographic atrophy, expanding our understanding of CRX-related retinal diseases.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
Keywords:
CRXcone-rod homeobox genemacular dystrophyretinal dystrophy

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  • Retinal dystrophies encompass a group of inherited disorders affecting photoreceptor cells.
  • The CRX gene plays a crucial role in photoreceptor development and function.