Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis

Abstract excerpt

Twenty causative genes have been reported that cause non-syndromic childhood glaucoma associated with anterior segment dysgenesis. FOXC1, PAX6 and PITX2 are the most well-known, but cases linked to SLC4A11, PITX3 and SOX11 have also been reported. As genetic testing becomes increasingly widespread and rates of molecular diagnosis rise, the extent of phenotypic overlap between the different genetic causes of non-sy...

Topics

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• Anterior Eye Segment
• Eye Abnormalities
• Eye Diseases, Hereditary
• Genetic Association Studies
• Glaucoma
• Mutation
• Phenotype
• Pregnancy

Identifiers and source

Literature Corpus work

e9ba46b3-0e8e-5ab0-af9c-3ff09876db84

DOI

10.20944/preprints202507.1647.v1