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Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review

Fariba Ghassemi1,2,3, Fatemeh Abdi4,5, Mandana Esfahani4

  • 1Eye research center, Farabi Eye Hospital, Tehran University of Medical Sciences, Qazvin Square, Tehran, IR, Iran. fariba.ghassemi@gmail.com.

BMC Ophthalmology
|July 15, 2020
PubMed

Insights

Homozygous protein C deficiency can cause blindness in infants presenting with leukocoria. Early diagnosis and treatment are crucial for preserving vision and life in affected children.

Area of Science:

  • Ophthalmology
  • Pediatrics
  • Hematology

Background:

  • Homozygous protein C (PC) deficiency is a rare, life-threatening condition.
  • Ocular manifestations of PC deficiency can lead to irreversible vision loss.

Observation:

  • A 5-month-old boy with a history of bruising and PC deficiency presented with bilateral leukocoria.
  • Ocular findings included anterior segment dysgenesis, cataract, and retinal detachment in the left eye.
  • The right eye exhibited anomalous retinal vascularization and optic nerve head abnormalities.

Findings:

  • Electroretinography revealed a total loss of a and b waves in both eyes.
  • Fluorescein angiography demonstrated severe leakage at the retinal vascularization junction and optic nerve head.
  • Laser treatment of the avascular retina in the right eye led to a favorable outcome.

Implications:

  • Infants presenting with leukocoria, anterior segment dysgenesis, or retinal abnormalities should be evaluated for PC deficiency.
  • Prompt diagnosis and management of PC deficiency can prevent blindness and save lives.
  • This case highlights the critical link between hematologic disorders and pediatric ocular health.
Abstract

Keywords:
CongenitalOphthalmic manifestationsProtein C deficiencyRetinal detachmentRetinal dysplasia

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