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X-Linked CGD Chorioretinitis in Two Young Girls.

Johnathan Abraham Bailey1, Maximilian Daechul Kong1, Chanakarn Piamjitchol2

  • 1Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.

Biomedicines
|February 26, 2025
PubMed
Summary

Skewed X-inactivation may cause chorioretinitis in female carriers of Chronic Granulomatous Disease (CGD), a primary immunodeficiency. Ocular manifestations were observed in two sisters, highlighting the need for carrier screening and awareness.

Keywords:
chorioretinitischronic granulomatous diseasefull-field electroretinogramlyonizationretinax-linked inheritance

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