Article
Eye development genes and known syndromes.
Molecular genetics and metabolism - 1 Dec 2011
Slavotinek Anne M
Abstract excerpt
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence...
Topics
- Abnormalities, Multiple
- Animals
- Anophthalmos
- Eye
- Genes, Developmental
- Genetic Association Studies
- Humans
- Microphthalmos
- Mutation
- Phenotype
- Syndrome