Article
Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
American journal of ophthalmology - 1 Apr 2008
Traboulsi Elias I, Ellison Jay, Sears Jonathan, Maumenee Irene H, Avallone John, Mohney Brian G
Abstract excerpt
PURPOSE: To report four patients with aniridia, preserved visual function, and no detectable mutations in PAX6. DESIGN: Retrospective case series. METHODS: The clinical records and molecular genetic findings of four patients from three clinical practices were reviewed retrospectively. RESULTS: All four patients had anterior segment findings characteristic of aniridia with good vision, no nystagmus in three of...
Topics
- Aniridia
- Child
- Child, Preschool
- Eye Proteins
- Female
- Genetic Heterogeneity
- Genotype
- Homeodomain Proteins
- Humans
- Infant, Newborn
- Mutation
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Repressor Proteins
- Retrospective Studies
- Tomography, Optical Coherence
- Visual Acuity