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 language | English |
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Pages (from-to) | 545-563 |
Number of pages | 19 |
Journal | Clinical Genetics |
Volume | 106 |
Issue number | 5 |
Early online date | 29 Aug 2024 |
DOIs | |
Publication status | Published - Nov 2024 |
Keywords
- genetic counselling
- genetic testing
- glaucoma
- syndromic glaucoma
- childhood glaucoma
- ongenital glaucoma
- congenital glaucoma