How do Fanconi anemia patients develop microcornea and microphthalmia?

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From the Research

Development of Microcornea and Microphthalmia in Fanconi Anemia Patients

  • Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, including microcornea and microphthalmia 1.
  • Microphthalmia is the most common congenital ocular abnormality in FA patients, affecting 95.2% of patients, while microcornea affects 46.6% of patients 2.
  • The development of microcornea and microphthalmia in FA patients is likely related to the genetic mutations that cause the disease, which affect DNA damage repair and can lead to congenital abnormalities 3, 4.
  • The genetic subtype of FA can also play a role in the development of microcornea and microphthalmia, with the FA-A subtype being the most prevalent 2.
  • Other ocular manifestations, such as ptosis and epiretinal tissue on the optic disc, can also occur in FA patients, highlighting the importance of comprehensive ophthalmologic evaluations 2.

References

1
Research

Fanconi anemia and its diagnosis.

Mutation research, 2009

3
Research

Fanconi anaemia.

Journal of medical genetics, 2003

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