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Genetics and Genomics in Clinical Ophthalmology, II: Glaucoma 

Genetics and Genomics in Clinical Ophthalmology, II: Glaucoma
Chapter:
Genetics and Genomics in Clinical Ophthalmology, II: Glaucoma
Author(s):

Roshanak Sharafieh

, Anne H. Child

, and Mansoor Sarfarazi

DOI:
10.1093/med/9780199896028.003.0041
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date: 06 June 2020

Glaucoma is a group of neurodegenerative condition and a leading cause of irreversible blindness. Glaucoma is a large and complex group of ocular disorders that are recognized by widely diverse clinical and histopathological manifestations. The common denominators of glaucoma are characteristic optic neuropathy, increased intraocular pressure (IOP), appearance of the optic nerve head, and visual field abnormalities. Glaucoma is delineated according to anatomy of the anterior chamber (open and closed angle), etiology (primary or secondary) and age of onset (infantile, juvenile and adult). Genetic heterogeneity in glaucoma pose diagnostic and management challenges to clinical opthalmolgists and delivering genetic counselling by clinical geneticists and genetic counsellors. Several genes and loci are now recorded for glaucoma. The knowledge obtained through ongoing Next-Generation Genome Sequencing of different glaucoma subtypes will not only accelerate gene identification, genetic counseling and more objective clinical diagnosis, but will also be another contributory component of much anticipated personalized genomic medicine in the near future.

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