Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

J. Jason McAnany, Mohamed A. Genead, Saloni Walia, Arlene V. Drack, Edwin M. Stone, Robert K. Koenekoop, Elias I. Traboulsi, Alison Smith, Richard G. Weleber, Samuel G. Jacobson, Gerald A. Fishman

Research output: Contribution to journalArticle

17 Scopus citations

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 bestcorrected 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 non-measurable 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.

Original languageEnglish (US)
Pages (from-to)178-182
Number of pages5
JournalJAMA ophthalmology
Volume131
Issue number2
DOIs
StatePublished - Feb 1 2013

ASJC Scopus subject areas

  • Ophthalmology

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    McAnany, J. J., Genead, M. A., Walia, S., Drack, A. V., Stone, E. M., Koenekoop, R. K., Traboulsi, E. I., Smith, A., Weleber, R. G., Jacobson, S. G., & Fishman, G. A. (2013). Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. JAMA ophthalmology, 131(2), 178-182. https://doi.org/10.1001/2013.jamaophthalmol.354