title: Foveal development and nystagmus.
abstract: The combination of optical coherence tomography (OCT) and genetic methods along with other clinical diagnostic tools permit the discrimination of infantile nystagmus subtypes with a precision that has not previously been possible. Analysis of specific diseases, such as albinism and achromatopsia as well as known genetic abnormalities, such as FRMD7 and PAX6 mutations, shows subtle but significant differences between nystagmus subtypes using eye movement recordings. In addition, OCT can be used to chart the progression of retinal diseases with age, for example, as has been shown in achromatopsia. OCT can also be used to predict the level of visual deficit due to retinal abnormalities, as demonstrated for albinism. These findings suggest that the classification of all infantile nystagmus into one single entity is premature.
authors.affiliation: Ophthalmology Group, University of Leicester, Faculty of Medicine and Biological Sciences, Leicester, United Kingdom. ig15@le.ac.uk
authors.forename: Frank
authors.initials: F
authors.lastname: Proudlock
authors.forename: Irene
authors.initials: I
authors.lastname: Gottlob
mesh_terms: D016117:Albinism, Ocular / Q000235:genetics / Q000503:physiopathology; D003117:Color Vision Defects / Q000235:genetics / Q000503:physiopathology; D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005584:Fovea Centralis / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D020417:Nystagmus, Congenital / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics; D041623:Tomography, Optical Coherence
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; C516168:FRMD7 protein, human; D018398:Homeodomain Proteins; D008565:Membrane Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins