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Related Experiment Video

Updated: Sep 10, 2025

Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model
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Exploring genotype-phenotype correlations in pathological myopia: a case report.

Qiaoqiao Kong1, Xuejing Lu1

  • 1Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu, China.

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|August 21, 2025
PubMed
Summary
This summary is machine-generated.

Genetic analysis of a family with pathological myopia identified a RHO gene variant of uncertain significance. Gonadal mosaicism is hypothesized but requires further investigation to confirm its role in high myopia.

Keywords:
RHO genegonadal chimerismhigh myopiapathologic myopiaposterior scleral staphyloma

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Last Updated: Sep 10, 2025

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Pathological myopia (PM) involves complex genetic factors influencing ocular axis elongation.
  • Genome-wide association studies (GWAS) have implicated several genes in PM development.
  • This study investigates a family with a high prevalence of PM to identify novel genetic contributors.

Observation:

  • A RHO gene variant (NM_000539.3:exon1:c.61C>T:p.R21C) was found in the proband, but its significance is unclear.
  • Exome sequencing of relatives did not reveal pathogenic variants explaining the high myopia.
  • A familial clustering of high myopia among females, particularly on the maternal side, was observed.

Findings:

  • The identified RHO variant is currently classified as a variant of uncertain significance.
  • No definitive pathogenic variants were identified through exome sequencing in affected family members.
  • Gonadal mosaicism in the proband's mother is proposed as a potential explanation for the observed inheritance pattern.

Implications:

  • Further research is needed to clarify the role of the RHO gene variant in pathological myopia.
  • The hypothesis of gonadal mosaicism requires additional studies for confirmation.
  • Understanding the genetic basis of PM can inform clinical diagnosis and management strategies.