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Updated: Nov 23, 2025

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Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case

Sarah Alzebaidi1, Yara Alghamdi1, Amal Alghamdi1

  • 1Pediatrics, King Saud bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.

Cureus
|December 30, 2020
PubMed

Insights

Progressive familial intrahepatic cholestasis type 1 (PFIC1), a rare liver disorder, was diagnosed in a 10-month-old girl. This case presents the first known ocular manifestation of PFIC1, a cherry-red spot, offering new research insights.

Area of Science:

  • Hepatology
  • Ophthalmology
  • Genetics

Background:

  • Progressive familial intrahepatic cholestasis type 1 (PFIC1) is a rare genetic liver disorder.
  • Ocular manifestations in PFIC1 have not been previously documented.

Keywords:
cherry red spotinfantprogressive familial intrahepatic cholestasis type 1 (pfic1)

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