title: 'Congenital' nystagmus may hide various ophthalmic diagnoses.
abstract: OBJECTIVE
  To investigate whether patients registered at a low-vision centre with 'nystagmus' had any underlying, but so far unknown, ophthalmic diagnosis.
  
  
  METHODS
  All patients registered at the low-vision centre of Uppsala county with nystagmus as their major diagnosis were identified. Their medical records were studied to exclude those with other general diagnoses that could explain the nystagmus. The remaining group of patients underwent an ophthalmic examination, refraction and optical coherence tomography (OCT). Electroretinogram and genetic analyses were performed when indicated.
  
  
  RESULTS
  Sixty-two patients with nystagmus as their main diagnosis were registered at the low-vision centre, Uppsala, and 43 of them had a major diagnosis other than nystagmus. Nystagmus was the major diagnosis in 19 patients, 15 of whom, aged 6-76 years, participated in the study. Two of the patients had foveal hypoplasia and albinism, four a seemingly isolated foveal hypoplasia, three achromatopsia, one rod-cone dystrophy, one degenerative high myopia, and two could not be evaluated. Only two patients appeared to have 'congenital' nystagmus. Eleven of the patients underwent a comprehensive genetic investigation of the PAX 6 gene. In addition, four of the patients were analysed for mutations in FOXC1 and PITX2 and one in FRMD7. No mutations were found in any of the patients analysed.
  
  
  CONCLUSIONS
  The study illustrates that many patients in our study group with nystagmus had underlying ophthalmic diagnoses. Early diagnosis is important to facilitate habilitation and to provide genetic counselling and, in the future, possibly also gene therapy.
authors.affiliation: Department of Neuroscience/Ophthalmology, Uppsala University, Uppsala, Sweden.
authors.forename: Gerd
authors.initials: G
authors.lastname: Holmström
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Bondeson
authors.forename: Urban
authors.initials: U
authors.lastname: Eriksson
authors.forename: Hanna
authors.initials: H
authors.lastname: Åkerblom
authors.forename: Eva
authors.initials: E
authors.lastname: Larsson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016117:Albinism, Ocular / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003117:Color Vision Defects / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D005584:Fovea Centralis / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D047728:Myopia, Degenerative / Q000175:diagnosis* / Q000235:genetics; D020417:Nystagmus, Congenital / Q000175:diagnosis* / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D012042:Registries; D012097:Repressor Proteins / Q000235:genetics; D041623:Tomography, Optical Coherence; D014157:Transcription Factors / Q000235:genetics; D015354:Vision, Low / Q000175:diagnosis; D000097577:Homeobox Protein PITX2
chemical_list: D005136:Eye Proteins; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C112743:FOXC1 protein, human; C000605730:PAX6 protein, human
keywords: achromatopsia; congenital nystagmus; foveal hypoplasia; nystagmus