Various phenotypic expressions of familial aniridia with aPAX6 mutation
- Department of Ophthalmology
- National Saitama Hospital
- Saitama 351-0102, Japan
- Department of Ophthalmology
- National Children’s Hospital
- Tokyo 154, Japan
- Accepted 22 March 1999
- Department of Ophthalmology
- National Saitama Hospital
- Saitama 351-0102, Japan
- Department of Ophthalmology
- National Children’s Hospital
- Tokyo 154, Japan
- Kazuno Negishi, MD, Department of Ophthalmology, Toden Hospital, 9-2, Shinanomachi, Shinjuku-ku, Tokyo 160-0016, Japan.
- Accepted 22 March 1999
Editor,—Aniridia is an uncommon congenital bilateral panocular disorder characterised by complete or partial absence of the iris and foveal hypoplasia. Aniridia can appear in a high penetrance form associated with other ocular anomalies such as keratopathy, foveal hypoplasia, cataract, ectopia lentis, and glaucoma.1 Recent studies showed that aniridia is caused by mutation of the PAX6gene,2-4 which controls early events in cerebral and ocular formation.4-7 We present a pedigree with various clinical findings of aniridia in which a mutation of thePAX6 gene was identified.
CASE REPORTS
The family tree is shown in Figure 1A. Case I-1 is a 52 year old man with visual impairment and nystagmus. He had cataract from an early age (the detail was unknown). His vision was right eye finger counting at 20 cm and left eye 0.01; eye examination revealed bilateral partial aniridia, dense cataract, corneal pannus, and foveal hypoplasia (Fig2A, B). His cataracts were removed …
