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Pediatric genetic diseases causing glaucoma

Parul Ichhpujani1, Rohan B Singh1

  • 1Glaucoma Service, Department of Ophthalmology, Government Medical College and Hospital, Chandigarh, India.

Journal of Pediatric Genetics
|September 15, 2016
PubMed

Insights

Genetic factors significantly influence glaucomatous optic neuropathy in children and adolescents. Understanding these inherited disorders is crucial for comprehensive glaucoma management beyond intraocular pressure reduction.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Glaucomatous optic neuropathy can result from various systemic factors.
  • Several genetic conditions are known to cause glaucoma in pediatric populations, including Axenfeld-Reiger syndrome, aniridia, Marfan syndrome, and neurofibromatosis type 1.

Purpose of the Study:

  • To highlight the role of systemic factors and genetic conditions in pediatric glaucoma.
  • To emphasize the importance of recognizing associated systemic diseases in glaucoma management.

Main Methods:

  • Review of literature on genetic causes of glaucoma in children and adolescents.
  • Analysis of advancements in genetic research related to inherited glaucoma disorders.

Main Results:

  • Genetic research has improved the understanding of fundamental causes of glaucoma in inherited disorders.
  • Multiple systemic associations exist with glaucoma, requiring clinical awareness.

Conclusions:

  • Effective glaucoma management requires addressing systemic associations and underlying disease processes, not solely focusing on intraocular pressure.
  • Clinicians must be familiar with the spectrum of genetic conditions linked to pediatric glaucoma for optimal patient care.

Keywords:
Axenfeld-Reiger syndromeMarfan syndromeRubinstein-Taybi syndromeSturge-Weber syndromeaniridiachildhood glaucomacongenital rubellaneurofibromatosis type 1nevus of Ota

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