A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia

Graefes Arch Clin Exp Ophthalmol. 2000 Jul;238(7):552-8. doi: 10.1007/s004170000124.


Background: A variety of PAX6 gene mutations were identified in patients with aniridia and/or allied ocular dysgenesis such as keratopathy, Peters' anomaly, foveal hypoplasia, and nystagmus. To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated with anterior and posterior segment anomalies, the PAX6 gene was examined.

Patients and methods: A Japanese family showed a variant aniridia phenotype in four successive generations. Affected individuals had congenital nystagmus, microcornea with shortened axial length, superficial peripheral corneal opacification with pannus formation, dislocated pupil, and foveal hypoplasia. Analysis of the PAX6 gene mutation was performed in affected and unaffected individuals.

Results: A novel missense mutation in the PAX6 gene was found in all affected individuals examined, but neither in unaffected individuals nor in unrelated healthy individuals. This mutation predicted a proline to arginine change at codon 118 (P118R) in the paired domain of PAX6 protein.

Conclusion: The reported family illustrates that mutations in the PAX6 gene, in particular missense mutations, may manifest atypical clinical expression or forme fruste of aniridia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aniridia / complications
  • Aniridia / genetics*
  • Child
  • DNA / analysis
  • DNA Primers / chemistry
  • Eye Proteins / genetics*
  • Female
  • Genetic Markers
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Nystagmus, Congenital / complications
  • Nystagmus, Congenital / genetics*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Repressor Proteins


  • DNA Primers
  • Eye Proteins
  • Genetic Markers
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins
  • DNA