Childhood glaucoma: Implications for genetic counselling

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Abstract

Childhood glaucoma is a heterogeneous group of ocular disorders defined by an age of onset from birth to 18 years. These vision-threatening disorders require early diagnosis, timely treatment, and lifelong management to maintain vision and minimise irreversible blindness. The genetics of childhood glaucoma is complex with both phenotypic and genetic heterogeneity. The purpose of this review is to summarise the different types of childhood glaucoma and their genetic architecture to aid in the genetic counselling process with patients and their families. We provide an overview of associated syndromes and discuss implications for genetic counselling, including genetic testing strategies, cascade genetic testing, and reproductive options.
Original languageEnglish
Pages (from-to)545-563
Number of pages19
JournalClinical Genetics
Volume106
Issue number5
Early online date29 Aug 2024
DOIs
Publication statusPublished - Nov 2024

Keywords

  • genetic counselling
  • genetic testing
  • glaucoma
  • syndromic glaucoma
  • childhood glaucoma
  • ongenital glaucoma
  • congenital glaucoma

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