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Multicenter Study
. 2013 Feb;131(2):178-82.
doi: 10.1001/2013.jamaophthalmol.354.

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

J Jason McAnany  1 , 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
Affiliations
Multicenter Study

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

J Jason McAnany et al. JAMA Ophthalmol. 2013 Feb.

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.

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Conflict of interest statement

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. The authors had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

Figures

Figure 1
Figure 1
Distribution of VA. Measurements made at the initial visit are represented by the dark bars and VA measurements at the most recent visit are represented by the light bars. The number above each bar represents the number of patients who had a given VA value.
Figure 2
Figure 2
Distribution of the change in VA from the initial to the most recent visit. Patients with measurable chart acuity are represented by the black bars and patients with non-measurable chart VA are represented by the gray bars. Negative values represent VA losses, whereas positive values represent gains in VA.
Figure 3
Figure 3
Change in VA as a function of follow-up duration. Data for patients with measurable chart acuity are represented by squares, whereas patients who had non-measurable chart VA are represented by diamonds. The dashed lines delineate a factor of two change in VA.
Figure 4
Figure 4
LogMAR VA as a function age. VA measurements at the initial visit are shown in the top panel and data from the most recent visit are shown in the bottom panel. The Snellen equivalents of the logMAR values are shown on the right y-axes. The dashed lines, presented for clarity, indicate the four levels of non-measurable chart VA.
See this image and copyright information in PMC

References

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