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Related Concept Videos

The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Updated: Aug 22, 2025

Subretinal Transplantation of Human Embryonic Stem Cell Derived-retinal Pigment Epithelial Cells into a Large-eyed Model of Geographic Atrophy
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X-linked retinoschisis: About a case.

E Pineda-Garrido1, A Ruiz-Guijosa1, A Valverde-Megías2

  • 1Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.

Archivos De La Sociedad Espanola De Oftalmologia
|November 7, 2022
PubMed
Summary
This summary is machine-generated.

X-linked retinoschisis (XLR), a male-affecting retinal degeneration, was observed in a 10-year-old female. Genetic analysis confirmed a homozygous RS1 gene variant, highlighting rare female XLR cases.

Keywords:
HomocigosisHomozygosisRetinoschisisRetinosquisis

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Degeneration

Background:

  • X-linked retinoschisis (XLR) typically affects males due to its X-linked recessive inheritance pattern.
  • XLR is a genetic disorder causing progressive vision loss and retinal schisis.

Observation:

  • A 10-year-old female presented with the full spectrum of XLR, including bilateral foveal alterations with a cystic appearance on OCT.
  • Best corrected visual acuity was 0.7 in both eyes (OU).

Findings:

  • Genetic analysis revealed a homozygous c.644A>T (p.Glu215Gly) variant in the RS1 gene.
  • This homozygous variant confirms the diagnosis of retinoschisis in a female patient, consistent with X-linked recessive inheritance.

Implications:

  • This case expands the understanding of XLR's presentation in females, challenging the classical X-linked disorder presentation.
  • It underscores the importance of genetic testing in atypical presentations of inherited retinal diseases.
  • The variability in XLR severity and lack of correlation with disease progression remain critical aspects for future research.