title: Aetiology of infantile nystagmus.
abstract: OBJECTIVE
  Mechanisms underlying infantile nystagmus are unclear. The aim of this review is to outline recent developments in understanding the aetiology of infantile nystagmus.
  
  
  RESULTS
  There have been advances in understanding mechanisms underlying idiopathic infantile nystagmus, which has progressed through determining the role of the FRMD7 gene in controlling neurite outgrowth, and albinism, in which recent models have investigated the possibility of retinal miswiring leading to nystagmus. We also briefly review aetiology of infantile nystagmus in afferent visual deficits caused by ocular disease, and PAX6 mutations. Improved phenotypical characterization of all these infantile nystagmus subtypes has been achieved recently through high-resolution retinal imaging using optical coherence tomography. Several new hypotheses proposing common mechanisms that could underlie various infantile nystagmus subtypes are also highlighted.
  
  
  CONCLUSIONS
  Although there is still no consensus of opinion regarding the mechanisms causing infantile nystagmus, identification of new genes and determining their cellular function, phenotypical characterization of genetic subtypes, and improvements in animal models have significantly advanced our understanding of infantile nystagmus. These recent developments pave the way to achieving a much clearer picture of infantile nystagmus aetiology in the future.
authors.affiliation: Ophthalmology Group, University of Leicester, Faculty of Medicine & Biological Sciences, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester, UK.
authors.forename: Irene
authors.initials: I
authors.lastname: Gottlob
authors.forename: Frank A
authors.initials: FA
authors.lastname: Proudlock
mesh_terms: D005136:Eye Proteins / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D020417:Nystagmus, Congenital / Q000175:diagnosis / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins