Related Experiment Video

Updated: May 20, 2026

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells
06:21

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells

Published on: November 4, 2022

Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia

Peter Karth1, Ravi Singh, Judy Kim

  • 1Medical College of Wisconsin, 925 N. 87th Street, Milwaukee, Wisconsin, USA.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|July 24, 2012
PubMed

Insights

A rare genetic mutation caused high homocysteine levels in a 7-week-old infant, leading to central retinal artery occlusions. This case highlights the importance of investigating hyperhomocysteinemia in young patients with atypical retinal artery occlusions.

Area of Science:

  • Ophthalmology
  • Genetics
  • Metabolic disorders

Background:

  • Retinal arterial occlusions are rare in infants and usually indicate underlying systemic issues.
  • Atypical presentations warrant a comprehensive investigation into potential metabolic and genetic causes.

Observation:

  • A previously healthy 7-week-old boy presented with bilateral central retinal artery occlusions.
  • The patient exhibited hyperhomocysteinemia and elevated serum methylmalonic acid levels.
  • Genetic analysis revealed a mutation in the transcobalamin receptor.

Findings:

  • The identified transcobalamin receptor mutation is associated with impaired vitamin B12 metabolism, leading to hyperhomocysteinemia.
  • Elevated homocysteine and methylmalonic acid levels were directly linked to the retinal artery occlusions.
  • This case establishes a novel genetic link to pediatric central retinal artery occlusions.

Implications:

  • Investigating hyperhomocysteinemia is crucial in the workup of pediatric patients with central retinal artery occlusions.
  • Early diagnosis of genetic metabolic disorders can prevent severe complications like vision loss.
  • This finding expands the understanding of genetic etiologies for retinal vascular occlusive events in neonates and infants.

More Related Videos

A Murine Model of Ischemic Retinal Injury Induced by Transient Bilateral Common Carotid Artery Occlusion05:20

A Murine Model of Ischemic Retinal Injury Induced by Transient Bilateral Common Carotid Artery Occlusion

Published on: November 12, 2020

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Related Concept Videos

Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...