title: Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.
abstract: OBJECTIVE
  To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene.
  
  
  METHODS
  Visual acuity was determined at the initial and most recent visits of 43 patients with LCA and CEP290 mutations. The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as the correlation between age and VA.
  
  
  RESULTS
  At the initial visit, 14 patients had measurable chart VA in the better-seeing eye, 25 patients had nonmeasurable chart VA, and 4 young patients did not have VA assessed. At the most recent visit, 15 patients had measurable chart VA and 28 had nonmeasurable chart VA. The average interval between the 2 visits was 10.4 years (range, 2-47 years). For patients with measurable chart VA, the median logMAR value at the initial visit (0.75; range, 0.10-2.30) and at the most recent visit (0.70; range, 0.10-2.00) did not differ significantly (P> .05). There was no significant relationship between VA and age.
  
  
  CONCLUSIONS
  Patients with LCA and CEP290 mutations had a wide spectrum of VA that was not related to age or length of follow-up. Severe VA loss was observed in most, but not all, patients in the first decade. These data will help clinicians provide counseling on VA changes in patients with CEP290 mutations and could be of value for future treatment trials.
authors: Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, USA
authors: J Jason
authors: JJ
authors: McAnany
authors: Mohamed A
authors: MA
authors: Genead
authors: Saloni
authors: S
authors: Walia
authors: Arlene V
authors: AV
authors: Drack
authors: Edwin M
authors: EM
authors: Stone
authors: Robert K
authors: RK
authors: Koenekoop
authors: Elias I
authors: EI
authors: Traboulsi
authors: Alison
authors: A
authors: Smith
authors: Richard G
authors: RG
authors: Weleber
authors: Samuel G
authors: SG
authors: Jacobson
authors: Gerald A
authors: GA
authors: Fishman
mesh_terms: D000293:Adolescent; D000328:Adult; D000951:Antigens, Neoplasm / Q000235:genetics*; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D014792:Visual Acuity / Q000502:physiology*; D055815:Young Adult
chemical_list: D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins